Publications

2023
  • Dimerization Choice and Alternative Functions of ZBTB Transcription Factors

    Barakat S, Ezen E, Devecioğlu I, Gezen M, Piepoli S, Erman B. The FEBS Journal 2023, DOI: 10.1111/febs.16905.

  • Machine learning aided multiscale modelling of the HIV-1 infection in the presence of NRTI therapy

    Tunc H, Sari M, Kotil S. PeerJ. 2023 Mar 31;11:e15033. doi: 10.7717/peerj.15033.

  • Prediction of HIV-1 protease resistance using genotypic, phenotypic, and molecular information with artificial neural networks Tunc H, Dogan B, Darendeli Kiraz BN, Sari M, Durdagi S, Kotil S. PeerJ. 2023 Mar 21;11:e14987. doi: 10.7717/peerj.14987.

  • Sex-specific paternal age effects on offspring quality in Drosophila melanogaster Aguilar P, Dag B, Carazo P, Sultanova Z. J Evol Biol. 2023 Apr;36(4):720-729. doi: 10.1111/jeb.14167.

  • A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia Çakar A, Pekbilir E, Ceylaner S, Durmuş H, Battaloğlu E, Şahin U, Parman Y. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):535-538. doi: 10.1080/21678421.2023.2189925.

  • TCR-NK Cells: A Novel Source for Adoptive Immunotherapy of Cancer Karahan ZS, Aras M, Sütlü T. Turk J Haematol. 2023 Feb 28;40(1):1-10. doi: 10.4274/tjh.galenos.2022.2022.0534.

  • Label-Free Identification of Exosomes using Raman Spectroscopy and Machine Learning Parlatan U, Ozen MO, Kecoglu I, Koyuncu B, Torun H, Khalafkhany D, Loc I, Ogut MG, Inci F, Akin D, Solaroglu I, Ozoren N, Unlu MB, Demirci U. Small. 2023 Mar;19(9):e2205519. doi: 10.1002/smll.202205519.

  • Investigating the eco-evolutionary tunnels for establishing cooperative communities Kotil SE, Vetsigian K. Math Biosci. 2023 Feb;356:108959. doi: 10.1016/j.mbs.2022.108959.

  • Next-generation sequencing of prolidase gene identifies novel and common variants associated with low prolidase in coronary artery ectasia Pekkoc-Uyanik KC, Aslan EI, Kilicarslan O, Ser OS, Ozyildirim S, Yanar F, Yildiz A, Ozturk O, Yilmaz-Aydogan H. Mol Biol Rep. 2023 Feb;50(2):1349-1365. doi: 10.1007/s11033-022-08142-1.

  • Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma Naqvi SF, Yıldız-Bölükbaşı E, Afzal M, Nalbant G, Mumtaz S, Tolun A, Malik S. Yale J Biol Med. 2023 Sep 29;96(3):347-365. doi: 10.59249/SSRG6507.

  • Human ACE2 orthologous peptide sequences show better binding affinity to SARS-CoV-2 RBD domain: Implications for drug design Mahmoudi Azar L, Öncel MM, Karaman E, Soysal LF, Fatima A, Choi SB, Eyupoglu AE, Erman B, Khan AM, Uysal S. Comput Struct Biotechnol J. 2023 Jul 24;21:4096-4109. doi: 10.1016/j.csbj.2023.07.022.

  • Open Genes-a new comprehensive database of human genes associated with aging and longevity Rafikova E, Nemirovich-Danchenko N, Ogmen A, Parfenenkova A, Velikanova A, Tikhonov S, Peshkin L, Rafikov K, Spiridonova O, Belova Y, Glinin T, Egorova A, Batin M. Nucleic Acids Res. 2023 Sep 4:gkad712. doi: 10.1093/nar/gkad712.

  • Application of scanning acoustic microscopy for evaluation of MMP activation in multiple cancer cell lines with a smart probe Otaş HO, Uluç N, Demirkan İ, Alkan A, Yilmazer A, Yaşa S, Khalafkhany D, Özören N, Ünlü MB. Turk J Biol. 2023 Jun 5;47(3):158-169. doi: 10.55730/1300-0152.2652.

  • Cryogenic X-ray crystallographic studies of biomacromolecules at Turkish Light Source "Turkish DeLight" Atalay N, Akcan EK, Gül M, Ayan E, Destan E, Ertem FB, Tokay N, Çakilkaya B, Nergiz Z, Karakadioğlu G, Kepceoğlu A, Yapici İ, Tosun B, Baldir N, Yildirim G, Johnson JA, Güven Ö, Shafiei A, Arslan NE, Yilmaz M, Kulakman C, Paydos SS, Çinal ZS, Şabanoğlu K, Pazarçeviren A, Yilmaz A, Canbay B, Aşci B, Kartal E, Tavli S, Çaliseki M, Göç G, Mermer A, Yeşilay G, Altuntaş S, Tateishi H, Otsuka M, Fujita M, Tekin Ş, Çiftçi H, Durdaği S, Dinler Doğanay G, Karaca E, Kaplan Türköz B, Kabasakal BV, Kati A, Demirci H. Turk J Biol. 2023 Jan 11;47(1):1-13. doi: 10.55730/1300-0152.2637.

  • Dimerization choice and alternative functions of ZBTB transcription factors Barakat S, Ezen E, Devecioğlu İ, Gezen M, Piepoli S, Erman B. FEBS J. 2023 Jul 14. doi: 10.1111/febs.16905.

  • Large-Scale Production of Anti-RNase A VHH Expressed in pyrG Auxotrophic Aspergillus oryzae Karaman E, Eyüpoğlu AE, Mahmoudi Azar L, Uysal S. Curr Issues Mol Biol. 2023 May 31;45(6):4778-4795. doi: 10.3390/cimb45060304.

  • Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes Çapan ÖY, Yapıcı Z, Özbil M, Çağlayan HS. Seizure. 2023 Jun 12:S1059-1311(23)00162-0. doi: 10.1016/j.seizure.2023.06.009.

  • Expression and characterization of recombinant IL-1Ra in Aspergillus oryzae as a system Mahmoudi Azar L, Karaman E, Beyaz B, Göktan I, Eyüpoğlu AE, Kizilel S, Erman B, Gül A, Uysal S. BMC Biotechnol. 2023 Jun 20;23(1):15. doi: 10.1186/s12896-023-00785-7.

  • Effect of sojourn time distributions on the early dynamics of COVID-19 outbreak Tunc H, Sari M, Kotil SE. Nonlinear Dyn. 2023;111(12):11685-11702. doi: 10.1007/s11071-023-08400-2.

2022
  • Sibling rivalry among the ZBTB transcription factor family: homodimers versus heterodimers

    Piepoli S, Barakat S, Nogay L, Şimşek B, Akkose U, Taskiran H, Tolay N, Gezen M, Yeşilada CY, Tuncay M, Adebali O, Atilgan C, Erman B. Life Sci Alliance. 2022 Sep 12;5(11):e202201474. doi: 10.26508/lsa.202201474.

  • Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

    Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H. EBioMedicine. 2022 Oct;84:104244. doi: 10.1016/j.ebiom.2022.104244.

  • Decline of humoral immune responses after natural SARS-CoV-2 infection can be efficiently reversed by vaccination

    Oktelik FB, Yilmaz V, Gelmez MY, Akdeniz N, Pamukcu C, Sutlu T, Kose M, Tuzun E, Deniz G. Can J Microbiol. 2022 Aug 1;68(8):543-550. doi: 10.1139/cjm-2022-0003.

  • Current practice in diagnostic genetic testing of the epilepsies

    Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, Lerche H, Lowenstein D, Møller RS, Poduri A, Sadleir L, Sisodiya SM, Weckhuysen S, Wilmshurst JM, Weber Y, Lemke JR, Berkovic SF, Cross JH, Helbig I, Lerche H, Lowenstein D, Mefford HC, Perucca P, Tan NC, Caglayan H, Helbig K, Singh G, Weber Y, Weckhuysen S. Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.1448.

  • Targeting mitochondrial DNA polymerase gamma for selective inhibition of MLH1 deficient colon cancer growth

    Somuncu B, Ekmekcioglu A, Antmen FM, Ertuzun T, Deniz E, Keskin N, Park J, Yazici IE, Simsek B, Erman B, Yin W, Erman B, Muftuoglu M. PLoS One. 2022 Jun 3;17(6):e0268391. doi: 10.1371/journal.pone.0268391.

  • Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

    Gerlevik U, Saygı C, Cangül H, Kutlu A, Çaralan EF, Topçu Y, Özören N, Sezerman OU. PLoS One. 2022 May 25;17(5):e0265400. doi: 10.1371/journal.pone.0265400.

  • Reversal of the T cell immune system reveals the molecular basis for T cell lineage fate determination in the thymus

    Shinzawa M, Moseman EA, Gossa S, Mano Y, Bhattacharya A, Guinter T, Alag A, Chen X, Cam M, McGavern DB, Erman B, Singer A. Nat Immunol. 2022 May;23(5):731-742. doi: 10.1038/s41590-022-01187-1.

  • Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

    Candayan A, Parman Y, Battaloğlu E. Balkan Med J. 2022 Jan 25;39(1):3-11. doi: 10.4274/balkanmedj.galenos.2021.2021-11-13.

  • Sumoylation in Physiology, Pathology and Therapy

    Sahin U, de Thé H, Lallemand-Breitenbach V. Cells. 2022 Feb 26;11(5):814. doi: 10.3390/cells11050814.

  • Disparate progenitor cell populations contribute to maintenance and repair neurogenesis in the zebrafish olfactory epithelium

    Kocagöz Y, Demirler MC, Eski SE, Güler K, Dokuzluoglu Z, Fuss SH. Cell Tissue Res. 2022 May;388(2):331-358. doi: 10.1007/s00441-022-03597-x.

  • Nanobodies as molecular imaging probes

    Barakat S, Berksöz M, Zahedimaram P, Piepoli S, Erman B. Free Radic Biol Med. 2022 Mar;182:260-275. doi: 10.1016/j.freeradbiomed.2022.02.031.

  • Human immunodeficiency virus type 1 impairs sumoylation

    Mete B, Pekbilir E, Bilge BN, Georgiadou P, Çelik E, Sutlu T, Tabak F, Sahin U. Life Sci Alliance. 2022 Feb 18;5(6):e202101103. doi: 10.26508/lsa.202101103.

  • Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder

    Çakar A, İnci M, Özdağ Acarlı AN, Çomu S, Candayan A, Battaloğlu E, Tekgül Ş, Başak AN, Durmuş H, Parman Y. Acta Neurol Scand. 2022 May;145(5):619-626. doi: 10.1111/ane.13592.

  • 3D Fiber Reinforced Hydrogel Scaffolds by Melt Electrowriting and Gel Casting as a Hybrid Design for Wound Healing

    Afghah F, Iyison NB, Nadernezhad A, Midi A, Sen O, Saner Okan B, Culha M, Koc B. Adv Healthc Mater. 2022 Jun;11(11):e2102068. doi: 10.1002/adhm.202102068.

  • Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

    Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V; Undiagnosed Diseases Network; Ast G, Shashi V, Fahey MC, Battaloğlu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H. Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004.

  • A quantitative analysis of temperature-dependent seasonal dormancy cycling in buried Arabidopsis thaliana seeds can predict seedling emergence in a global warming scenario

    Batlla D, Malavert C, Farnocchia RBF, Footitt S, Benech-Arnold RL, Finch-Savage WE. J Exp Bot. 2022 Apr 18;73(8):2454-2468. doi: 10.1093/jxb/erac038.

  • Redox Signaling and Stress in Inherited Myopathies

    Dogan SA, Giacchin G, Zito E, Viscomi C. Antioxid Redox Signal. 2022 Aug;37(4-6):301-323. doi: 10.1089/ars.2021.0266.

  • Sumoylation of Cas9 at lysine 848 regulates protein stability and DNA binding

    Ergünay T, Ayhan Ö, Celen AB, Georgiadou P, Pekbilir E, Abaci YT, Yesildag D, Rettel M, Sobhiafshar U, Ogmen A, Emre NT, Sahin U. Life Sci Alliance. 2022 Jan 12;5(4):e202101078. doi: 10.26508/lsa.202101078. Print 2022 Apr.

  • Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

    Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531.

  • De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

    Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409.

  • Mosaic translation hypothesis: chimeric polypeptides produced via multiple ribosomal frameshifting as a basis for adaptability

    Çakır U, Gabed N, Brunet M, Roucou X, Kryvoruchko I. FEBS J. 2023 Jan;290(2):370-378. doi: 10.1111/febs.16269.

  • Screening of Clinically Approved and Investigation Drugs as Potential Inhibitors of SARS-CoV-2: A Combined in silico and in vitro Study

    Durdagi S, Orhan MD, Aksoydan B, Calis S, Dogan B, Sahin K, Shahraki A, Iyison NB, Avsar T. Mol Inform. 2022 Feb;41(2):e2100062. doi: 10.1002/minf.202100062.

2021
  • Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'

    Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Nucleic Acids Res. 2021 Oct 11;49(18):10803. doi: 10.1093/nar/gkab837.

  • Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

    Candayan A, Çakar A, Yunisova G, Özdağ Acarlı AN, Atkinson D, Topaloğlu P, Durmuş H, Yapıcı Z, Jordanova A, Parman Y, Battaloğlu E. Neurol Genet. 2021 Aug 31;7(5):e621. doi: 10.1212/NXG.0000000000000621.

  • CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families

    Khoshbakht S, Beheshtian M, Fattahi Z, Bazazzadegan N, Parsimehr E, Fadaee M, Vazehan R, Faraji Zonooz M, Abolhassani A, Makvand M, Kariminejad A, Celik A, Kahrizi K, Najmabadi H. Arch Iran Med. 2021 May 1;24(5):364-373. doi: 10.34172/aim.2021.53.

  • Distribution and mRNA Expression of nAChRs in the Rat S1 and M1 Cortices After Electrical Stimulation of the Basal Forebrain

    Iyison NB, Kilickap BD, Sahbaz BD, Vardar B, Guclu B. Turk Neurosurg. 2021;31(6):896-906. doi: 10.5137/1019-5149.JTN.31865-20.3.

  • Ochratoxin A induces ERK1/2 phosphorylation-dependent apoptosis through NF-κB/ERK axis in human proximal tubule HK-2 cell line

    Darbuka E, Gürkaşlar C, Yaman I. Toxicon. 2021 Aug;199:79-86. doi: 10.1016/j.toxicon.2021.06.005.

  • Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features

    Çakar A, Şahin E, Tezel S, Candayan A, Samancı B, Battaloğlu E, Başak AN, Bilgiç B, Hanağası H, Durmuş H, Parman Y. Acta Neurol Belg. 2022 Aug;122(4):939-945. doi: 10.1007/s13760-021-01721-2.

  • Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations

    Aslan T, Yenenler-Kutlu A, Gerlevik U, Aktuğlu Zeybek AÇ, Kıykım E, Sezerman OU, Birgul Iyison N. J Biomol Struct Dyn. 2022;40(19):9018-9029. doi: 10.1080/07391102.2021.1921619.

  • DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

    Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Nucleic Acids Res. 2021 May 21;49(9):5230-5248. doi: 10.1093/nar/gkab282.

  • Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation

    Akdal G, Koçoğlu K, Bora E, Koç A, Ülgenalp A, Bedir M, Ala RT, Battaloğlu E, Kırkım G, Şengün İŞ, Halmágyi GM. Neurol Clin Pract. 2021 Apr;11(2):e129-e134. doi: 10.1212/CPJ.0000000000000930.

  • The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

    Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, Gündoğdu Eken A, Şahbaz I, Kovancılar Koç M, Öztop Çakmak Ö, Hanağası H, Bilgiç B, Eraksoy M, Gündüz A, Apaydın H, Kızıltan G, Özekmekçi S, Siva A, Altıntaş A, Kaya Güleç ZE, Parman Y, Oflazer P, Deymeer F, Durmuş H, Şahin E, Çakar A, Tüfekçioğlu Z, Tektürk P, Çorbalı MO, Tireli H, Akdal G, Yiş U, Hız S, Şengün İ, Bora E, Serdaroğlu G, Erer Özbek S, Ağan K, İnce Günal D, Us Ö, Kurt SG, Aksoy D, Bora Tokçaer A, Elmas M, Gültekin M, Kumandaş S, Acer H, Kaya Özçora GD, Yayla V, Soysal A, Genç G, Güllüoğlu H, Kotan D, Özözen Ayas Z, Şahin HA, Tan E, Topçu M, Topçuoğlu ES, Akbostancı C, Koç F, Ertan S, Elibol B, Başak AN. Mov Disord. 2021 Jul;36(7):1676-1688. doi: 10.1002/mds.28518.

  • Structural and Functional Characterization of Allatostatin Receptor Type-C of Thaumetopoea pityocampa, a Potential Target for Next-Generation Pest Control Agents

    Shahraki A, Işbilir A, Dogan B, Lohse MJ, Durdagi S, Birgul-Iyison N. J Chem Inf Model. 2021 Feb 22;61(2):715-728. doi: 10.1021/acs.jcim.0c00985.

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)(1)

    Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, et al. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280.

  • Synchronous and Asynchronous Response in Dynamically Perturbed Proteins

    Hacisuleyman A, Erkip A, Erman B, Erman B. J Phys Chem B. 2021 Jan 28;125(3):729-739. doi: 10.1021/acs.jpcb.0c08409.

  • Are insect GPCRs ideal next-generation pesticides: opportunities and challenges

    Birgül Iyison N, Shahraki A, Kahveci K, Düzgün MB, Gün G. FEBS J. 2021 Apr;288(8):2727-2745. doi: 10.1111/febs.15708.

  • Diving into the streams and waves of constitutive and regenerative olfactory neurogenesis: insights from zebrafish

    Calvo-Ochoa E, Byrd-Jacobs CA, Fuss SH. Cell Tissue Res. 2021 Jan;383(1):227-253. doi: 10.1007/s00441-020-03334-2.

2020
  • NLRP7 plays a functional role in regulating BMP4 signaling during differentiation of patient-derived trophoblasts.
    Alici-Garipcan A, Özçimen B, Süder I, Ülker V, Önder TT, Özören N.
    Cell Death Dis. 2020 Aug 19;11(8):658. doi: 10.1038/s41419-020-02884-1.

  • Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.
    Yıldız Bölükbaşı E, Shabbir RMK, Malik S, Tolun A.
    J Hum Genet. 2020 Aug 10. doi: 10.1038/s10038-020-0817-8.

  • Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
    Zahra Q, Çakmak Ç, Koprulu M, Shuaib M, Sobreira N, Kalsner L, Sobreira J, Guillen Sacoto MJ, Malik S, Tolun A.
    J Hum Genet. 2020 Jul 31. doi: 10.1038/s10038-020-0812-0.

  • Changes in phenological events in response to a global warming scenario reveal greater adaptability of winter annual compared to summer annual Arabidopsis ecotypes.
    Footitt S, Hambidge AJ, Finch-Savage WE.
    Ann Bot. 2020 Jul 29:mcaa141. doi: 10.1093/aob/mcaa141.

  • Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey.
    Kotan D, Özözen Ayas Z, Tunca C, Gungen BD, Akçimen F, Başak AN.
    Acta Neurol Belg. 2020 Jul 15. doi: 10.1007/s13760-020-01441-z.

  • Whole genome sequencing of Thametopoea pityocampa revealed putative pesticide targets.
    Shahraki A, Yu Y, Gul ZM, Liang C, Iyison NB.
    Genomics 2020 Jul 8:S0888-7543(20)30038-0. doi: 10.1016/j.ygeno.2020.07.017.

  • Purinergic signalling selectively modulates maintenance but not repair neurogenesis in the zebrafish olfactory epithelium.
    Demirler MC, Sakizli U, Bali B, Kocagöz Y, Eski SE, Ergönen A, Alkiraz AS, Bayramli X, Hassenklöver T, Manzini I, Fuss SH.
    FEBS J. 2020 Jul;287(13):2699-2722. doi: 10.1111/febs.15170.

  • Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
    Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN.
    Hum Mutat. 2020 Jun 24. doi: 10.1002/humu.24055.

  • Salt inducible kinases as novel Notch interactors in the developing Drosophila retina.
    Şahin HB, Sayın S, Holder M, Buğra K, Çelik A.
    PLoS One. 2020 Jun 15;15(6):e0234744. doi: 10.1371/journal.pone.0234744.

  • GmVTL1a is an iron transporter on the symbiosome membrane of soybean with an important role in nitrogen fixation.
    Brear EM, Bedon F, Gavrin A, Kryvoruchko IS, Torres-Jerez I, Udvardi MK, Day DA, Smith PMC.
    New Phytol. 2020 Jun 13. doi: 10.1111/nph.16734.

  • Resting- state network dysconnectivity in ADHD: A system-neuroscience-based meta- analysis.
    Sutcubasi B, Metin B, Kurban MK, Metin ZE, Beser B, Sonuga-Barke E.
    World J Biol Psychiatry. 2020 Jun 30:1-11. doi: 10.1080/15622975.2020.1775889.

  • Novel EDAR mutation in tooth agenesis and variable associated features.
    Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S.
    Eur J Med Genet. 2020 Apr 20:103926. doi: 10.1016/j.ejmg.2020.103926.

  • Generation and characterization of inner photoreceptor-specific enhancer-trap lines using a novel piggyBac-Gal4 element in Drosophila.
    Terzioğlu Kara E, Kiral FR, Öztürk Çolak A, Çelik A.
    Arch Insect Biochem Physiol. 2020 Jun;104(2):e21675. doi: 10.1002/arch.21675.

  • Sumoylation on its 25th anniversary: mechanisms, pathology, and emerging concepts.
    Celen AB, Sahin U.
    FEBS J. 2020 Apr 7. doi: 10.1111/febs.15319.

  • Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
    Akçakaya NH, Özeş Ak B, Gonzalez MA, Züchner S, Battaloğlu E, Parman Y.
    Neurol Neurochir Pol. 2020;54(2):176-184. doi: 10.5603/PJNNS.a2020.0026.

  • Boosting Natural Killer Cell-Mediated Targeting of Sarcoma Through DNAM-1 and NKG2D.
    Sayitoglu EC, Georgoudaki AM, Chrobok M, Ozkazanc D, Josey BJ, Arif M, Kusser K, Hartman M, Chinn TM, Potens R, Pamukcu C, Krueger R, Zhang C, Mardinoglu A, Alici E, Temple HT, Sutlu T, Duru AD.
    Front Immunol. 2020 Jan 28;11:40. doi: 10.3389/fimmu.2020.00040.

  • Bacterial Shoot Apical Meristem Inoculation Assay.
    Naseem M, Gun G, Osmanoglu O, AlRemeithi FA, Iqbal J, Dandekar T.
    Methods Mol Biol. 2020;2094:17-22. doi: 10.1007/978-1-0716-0183-9_2.

  • The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
    Candayan A, Yunisova G, Çakar A, Durmuş H, Başak AN, Parman Y, Battaloğlu E.
    Neurogenetics. 2020 Jan;21(1):73-78. doi: 10.1007/s10048-019-00594-1.

2019
  • The NLRP3 inflammasome: a new player in neurological diseases.
    Eren E, Özören N.
    Turk J Biol. 2019 Dec 13;43(6):349-359. doi: 10.3906/biy-1909-31.

  • The utility of NBS-profiling for characterization of yellow rust resistance in an F6 durum wheat population.
    Tufan HA, Taşkin BG, Maccormack R, Boyd LA, Kaya Z, Türet M.
    J Genet. 2019 Nov; 98:98.

  • A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.
    Akçimen F, Vural A, Durmuş H, Çakar A, Houlden H, Parman YG, Nazlı Başak A.
    J Hum Genet. 2019 Nov;64(11):1141-1144. doi: 10.1038/s10038-019-0652-y.

  • Ochratoxin A Sequentially Activates Autophagy and the Ubiquitin-Proteasome System.
    Akpinar HA, Kahraman H, Yaman I.
    Toxins (Basel). 2019 Oct 24;11(11):615. doi: 10.3390/toxins11110615.

  • FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
    Mavioğlu RN, Kara B, Akansel G, Nalbant G, Tolun A.
    Clin Genet. 2019 Nov;96(5):456-460. doi: 10.1111/cge.13612.

  • widgetcon: A website and program for quick conversion among common population genetic data formats.
    Aydın M, Kryvoruchko IS, Şakiroğlu M.
    Mol Ecol Resour. 2019 Sep;19(5):1374-1377. doi: 10.1111/1755-0998.13047.

  • A molecule inducing androgen receptor degradation and selectively targeting prostate cancer cells.
    Auvin S, Öztürk H, Abaci YT, Mautino G, Meyer-Losic F, Jollivet F, Bashir T, de Thé H, Sahin U.
    Life Sci Alliance. 2019 Aug 20;2(4):e201800213. doi: 10.26508/lsa.201800213.

  • Possible role of SCN4A skeletal muscle mutation in apnea during seizure.
    Türkdoğan D, Matthews E, Usluer S, Gündoğdu A, Uluç K, Mannikko R, Hanna MG, Sisodiya SM, Çağlayan HS.
    Epilepsia Open. 2019 Jul 1;4(3):498-503. doi: 10.1002/epi4.12347.

  • Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
    Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A.
    Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3.

  • A multicenter retrospective study of charcot- marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin- related proteins (MTMRs).
    Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
    Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500.

  • Identification of Novel Components of Target-of-Rapamycin Signaling Pathway by Network-Based Multi-Omics Integrative Analysis.
    Dereli Eke E, Arga KY, Dikicioglu D, Eraslan S, Erkol E, Celik A, Kirdar B, Di Camillo B.
    OMICS. 2019 May;23(5):274-284. doi: 10.1089/omi.2019.0021.

  • No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
    Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.
    Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657.

  • Ligand-binding affinity of alternative conformers of human β2 -adrenergic receptor in the presence of intracellular loop 3 (ICL3) and their potential use in virtual screening studies.
    Dilcan G, Doruker P, Akten ED.
    Chem Biol Drug Des. 2019 May;93(5):883-899. doi: 10.1111/cbdd.13478.

  • An in vivo RNAi mini-screen in Drosophila cancer models reveals novel potential Wnt targets in liver cancer.
    Even İ, Akiva İ, İyison NB.
    Turk J Gastroenterol. 2019 Feb;30(2):198-207. doi: 10.5152/tjg.2018.18241.

  • Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
    Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, Basak AN, Morrison KE, Shaw CE, Al-Chalabi A, Landers JE, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, McDermott CJ, Hautbergue GM, Kirby J, Shaw PJ.
    Cell Rep. 2019 Feb 26;26(9):2298-2306.e5. doi: 10.1016/j.celrep.2019.02.006.

  • A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing.
    Karacan İ, Diz Küçükkaya R, Karakuş FN, Solakoğlu S, Tolun A, Hançer VS, Turanlı ET.
    Turk J Haematol. 2019 Feb 7;36(1):29-36. doi: 10.4274/tjh.galenos.2018.2018.0325.

  • Prediction and expression analysis of G protein-coupled receptors in the laboratory stick insect, Carausius morosus.
    Duan Şahbaz B, Birgül Iyison N.
    Turk J Biol. 2019 Feb 7;43(1):77-88. doi: 10.3906/biy-1809-27.

  • Loss of odor-induced c-Fos expression of juxtaglomerular activity following maintenance of mice on fatty diets.
    Fardone E, Celen AB, Schreiter NA, Thiebaud N, Cooper ML, Fadool DA.
    J Bioenerg Biomembr. 2019 Feb;51(1):3-13. doi: 10.1007/s10863-018-9769-5.

  • A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
    Saygı C, Alanay Y, Sezerman U, Yenenler A, Özören N.
    BMC Med Genet. 2019 Jan 14;20(1):15. doi: 10.1186/s12881-019-0746-6.

2018
  • CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.
    Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, Oladnabi M, Haddadi M, Celik A, Ropers HH, Najmabadi H, Kahrizi K.
    Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. doi: 10.1002/ajmg.b.32648.

  • Identification of IFITM3 and MGAT1 as novel interaction partners of BRI3 by yeast two-hybrid screening.
    Akiva İ, Birgül Iyison N.
    Turk J Biol. 2018 Dec 10;42(6):463-470. doi: 10.3906/biy-1805-47.

  • Visualization and Analysis of miRNAs Implicated in Amyotrophic Lateral Sclerosis Within Gene Regulatory Pathways.
    Hamzeiy H, Suluyayla R, Brinkrolf C, Janowski SJ, Hofestädt R, Allmer J.
    Stud Health Technol Inform. 2018;253:183-187.

  • STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
    Turkgenc B, Sanlidag B, Eker A, Giray A, Kutuk O, Yakicier C, Tolun A, Temel SG.
    Hum Mutat. 2018 Oct;39(10):1344-1348. doi: 10.1002/humu.23601.

  • Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
    Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H.
    Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220.

  • Assessment of the corticospinal fiber integrity in mirror movement disorder.
    Solmaz B, Özyurt MG, Ata DB, Akçimen F, Shabsog M, Türker KS, Dalçik H, Algin O, Başak AN, Özgür M, Çavdar S.
    J Clin Neurosci. 2018 Aug;54:69-76. doi: 10.1016/j.jocn.2018.06.001.

  • De novo variants in neurodevelopmental disorders with epilepsy.
    Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.
    Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7.

  • Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey.
    Sayan S, Kotan D, Gündoğdu-Eken A, Şahbaz I, Koçoğlu C, Başak AN.
    Noro Psikiyatr Ars. 2018 Jul 11;56(2):106-109. doi: 10.5152/npa.2017.20525.

  • The transcription factor Grainy head primes epithelial enhancers for spatiotemporal activation by displacing nucleosomes.
    Jacobs J, Atkins M, Davie K, Imrichova H, Romanelli L, Christiaens V, Hulselmans G, Potier D, Wouters J, Taskiran II, Paciello G, González-Blas CB, Koldere D, Aibar S, Halder G, Aerts S.
    Nat Genet. 2018 Jul;50(7):1011-1020. doi: 10.1038/s41588-018-0140-x.

  • Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino- symphalangism and synpolydactyly.
    Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A.
    J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003.

  • Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
    Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A.
    Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7.

  • ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.
    Tunca C, Akçimen F, Coşkun C, Gündoğdu-Eken A, Kocoglu C, Çevik B, Bekircan- Kurt CE, Tan E, Başak AN.
    Eur J Hum Genet. 2018 May;26(5):745-748. doi: 10.1038/s41431-018-0107-5.

  • LACC1 Gene Defects in Familial Form of Juvenile Arthritis.
    Karacan I, Uğurlu S, Şahin S, Everest E, Kasapçopur Ö, Tolun A, Özdoğan H, Turanli ET.
    J Rheumatol. 2018 May;45(5):726-728. doi: 10.3899/jrheum.170834.

  • Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.
    Hamzeiy H, Savaş D, Tunca C, Şen NE, Gündoğdu Eken A, Şahbaz I, Calini D, Tiloca C, Ticozzi N, Ratti A, Silani V, Başak AN.
    Neurodegener Dis. 2018;18(1):38-48. doi: 10.1159/000486201.

  • WNT10B mutations associated with isolated dental anomalies.
    Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M, Leethanakul C, Tolun A, Ketudat Cairns JR.
    Clin Genet. 2018 May;93(5):992-999. doi: 10.1111/cge.13218.

  • The Cytokinin-Activating LOG-Family Proteins Are Not Lysine Decarboxylases Trends.
    Naseem M, Bencurova E, Dandekar T.
    Biochem Sci. 2018 Apr;43(4):232-236. doi: 10.1016/j.tibs.2018.01.002.

  • SIK2 attenuates proliferation and survival of breast cancer cells with simultaneous perturbation of MAPK and PI3K/Akt pathways.
    Zohrap N, Saatci Ö, Ozes B, Coban I, Atay HM, Battaloglu E, Şahin Ö, Bugra K.
    Oncotarget. 2018 Apr 24;9(31):21876-21892. doi: 10.18632/oncotarget.25082.

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
    Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna- Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.
    Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

  • Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A.
    J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758.

  • MGAT1 is a novel transcriptional target of Wnt/β-catenin signaling pathway.
    Akiva I, Birgül Iyison N.
    BMC Cancer. 2018 Jan 8;18(1):60. doi: 10.1186/s12885-017-3960-7.

  • Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.
    Kocoglu C, Gundogdu A, Kocaman G, Kahraman-Koytak P, Uluc K, Kiziltan G, Caglayan AO, Bilguvar K, Vural A, Basak AN.
    Neurol Genet. 2018 Jan 18;4(1):e218. doi:10.1212/NXG.0000000000000218.

2017
  • Neonatal Nav1.5 protein expression in normal adult human tissues and breast cancer. Yamaci RF, Fraser SP, Battaloglu E, Kaya H, Erguler K, Foster CS, Djamgoz MBA. Pathol Res Pract. . 2017 Aug;213(8):900-907. doi: 10.1016/j.prp.2017.06.003.

  • MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
    Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.
    Brain. . 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

  • PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
    Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E.
    Clin Genet. . 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008.

  • Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
    Akcakaya NH, Iseri SU, Bilir B, Battaloglu E, Tekturk P, Gultekin M, Akar G, Yigiter R, Hanagasi H, Alp R, Cagirici S, Eraksoy M, Ozbek U, Yapici Z.
    Clin Neurol Neurosurg. . 2017 Mar;154:34-42. doi: 10.1016/j.clineuro.2017.01.011.

  • Ligand binding pocket of a novel Allatostatin receptor type C of stick insect, Carausius morosus.
    Burcin Duan Sahbaz, Osman Ugur Sezerman, Hamdi Torun & Necla Birgül Iyison:
    Scientific Reports, . 7:41266, DOI: 10.1038/srep41266, 2017

  • Neurodevelopment disorders caused by de novo variants in KCNB1 genotypes and phenotypes JAMA Neurology
    Carolien G.F. de Kovel, Steffen Syrbe, Eva H. Brilstra, et al. jamaneurol. . 74(10):1228-1236, doi:10.1001/2017.1714 2017

  • Clinical spectrum and genotype-phenotype correlations of KCNA2-related epileptic encephalopathies
    Silvia Masnada, Ulrike BS Hedrich, Elena Gardella, et al. Brain .140 (9): 2337-2354 doi:10.1093/brain/awx184

  • Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
    Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu-Eken, Uluc Yiş, Costin Leu, Janine Altmüller, Holger Thiele, Peter Nuernberg, Thomas Sander, S. Hande Çağlayan (2017) . European Journal of Pediatric Neurology, . 21(5):773-782. Doi:10.1016/j.ejpn.2017.05.001

  • Application of rare variant transmission disequilibrium test to epileptic encephalopathy trio sequence data.
    Epi4K Consortium, EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome (2017)
    . 25(7):894-899. Doi: 10.1038/ejhg.2017.61

  • Functional characterisation of the type 1 von Willebrand disease candidateVWF gene variants: p.M771I, p.L881R and p.P1413L.
    Ergul Berber, Mehmet Ozbil, Christine Brown, Zafer Baslar, S. Hande Caglayan, David Lillicrap (2017)
    . 15:548-56. Doi.10.2450/2016.0034-16

  • De novo 8p23.1 deletion in a patient with absence epilepsy.
    Nihan Hande Akçakaya, Özlem Yalçın Çapan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı (2017)
    . 1;19(2):217-221 Doi: 10.1684/epd.2017.0906 185AE447

  • Biallelic Loss-of-Function Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures, Microcephaly, Absent Speech, Hypotonia, Growth Retardation with Prenatal Onset, and Dysmorphic Features.
    Teresa Santiago-Sim, Lindsay C. Burrage, et al., EuroEPINOMICS RES Consortium Autosomal Recessive working group, (2017)
    . 6;100(4):676-688 doi: 10.1016/j.ajhg.2017.03.001.

  • Patterned Arrangements of Olfactory Receptor Gene Expression in Zebrafish are Established by Radial Movement of Specified Olfactory Sensory Neurons.
    Bayramli X, Kocagöz Y, Sakizli U, Fuss SH.
    Sci Rep. . 2017 Jul 17;7(1):5572. doi: 10.1038/s41598-017-06041-1.

  • “NLRC3 protein inhibits inflammation by disrupting NALP3 inflammasome assembly via competition with the adaptor protein ASC for pro-caspase-1 binding”
    Eren E, Berber M and Özören N
    J Biol Chem. . 2017 Jun 5. pii: jbc.M116.769695. doi: 10.1074/jbc.M116.769695. PMID: 28584053

  • Characterization of the catalytic properties of the membrane-anchored metalloproteinase ADAM9 in cell-based assays.
    Maretzky T, Swendeman S, Mogollon E, Weskamp G, Sahin U, Reiss K, Blobel CP.
    Biochem J. . 2017 Apr 13;474(9):1467-1479. doi: 10.1042/BCJ20170075.

  • Effects of Cutting Time and IBA Treatment on Rooting of Rhododendron Summer Cuttings Collected from Turkish Flora.
    B. Altun, H. Celik, H. Gumus, S. Saglam, O. Eminagaoglu, M. Turet, T. Yucel, I.T. Kaya. (2017)
    . 3(1): 662-666 (DOI: 10.21276/sb.2017.3.12.6)

  • Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
    Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. . 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332.

  • Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.
    Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S. . 2017 May;60(5):268-274. doi: 10.1016/j.ejmg.2017.03.004.

  • Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A. . 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183.


  • Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF.
    Karacan İ, Uğurlu S, Tolun A, Tahir Turanlı E, Ozdogan H.
    . 2017 Nov-Dec;35 Suppl 108(6):75-81. Epub 2017 Oct 27.

  • Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.
    Lahut S, Gispert S, Ömür Ö, Depboylu C, Seidel K, Domínguez-Bautista JA, Brehm N, Tireli H, Hackmann K, Pirkevi C, Leube B, Ries V, Reim K, Brose N, den Dunnen WF, Johnson M, Wolf Z, Schindewolf M, Schrempf W, Reetz K, Young P, Vadasz D, Frangakis AS, Schröck E, Steinmetz H, Jendrach M, Rüb U, Başak AN, Oertel W, Auburger G.
    . 2017 May 1;10(5):619-631. doi: 10.1242/dmm.028035.

  • Plant-Pathogen Maneuvering over Apoplastic Sugars.
    Naseem M, Kunz M, Dandekar T. . 2017 Sep;22(9):740-743. doi: 10.1016/j.tplants.2017.07.001. Epub 2017 Aug 2. Review.

  • A Systems Biology Methodology Combining Transcriptome and Interactome Datasets to Assess the Implications of Cytokinin Signaling for Plant Immune Networks. Kunz M, Dandekar T, Naseem M. . 2017;1569:165-173. doi: 10.1007/978-1-4939-6831-2_14.

  • Modulating the Levels of Plant Hormone Cytokinins at the Host-Pathogen Interface. Naseem M, Shams S, Roitsch T. . 2017;1569:141-150. doi: 10.1007/978-1-4939-6831-2_11.

  • Reconstruction of an Immune Dynamic Model to Simulate the Contrasting Role of Auxin and Cytokinin in Plant Immunity. Kaltdorf M, Dandekar T, Naseem M. . 2017;1569:83-92. doi: 10.1007/978-1-4939-6831-2_6.

  • Impact of Genetic Defects on Coronary Atherosclerosis among Turkish Cypriots. Conkbayir C, Fahrioglu Yamaci R, Gencer P, Barin B, Yucel G, Yildiz CE, Ugurlucan M, Basak AN. . 2017 Oct 30;20(5):E223-E229. doi: 10.1532/hsf.1587.

2016
  • Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
    Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A.
    Genet Med.2016 Jun;18(6):600-7. doi: 10.1038/gim.2015.139.

  • New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
    Tang S, Hughes E, Lascelles K, EuroEPINOMICS RES myoclonic astatic epilepsy working group
    Am. J. Med. Genet. Part A 173A:195-199. 2016

  • Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients,
    Carolien G.F. de Kovel, Eva H. Brilstra, Marjan J.A. van Kempen, et al.,
    Molecular Genetics & Genomic Medicine . 4(5): 568-580. DOI: 10.1002/mgg3.235 (2016)

  • Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline,
    Katia Hardies, Yiying Cai, Claude Jardel, et al.,
    Brain . 139:2420-2430.DOI: 10.1093/brain/aww|80 (2016)

  • Phenotypic spectrum of GABRA1 gene: from idiopathic generalized epilepsies to severe epileptic encephalopathies,
    Johannesen K, C Marini, S Pfeffer, R S Møller, et al.,
    Neurology . 87(11):1140-1151. DOI: 10.1212/WNL.0000000000003087 (2016)

  • Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes,
    Dennis Lal, Eva M. Reinthaler, Borislav Dejanovic, et al.,
    PLOS ONE, . 11(3):e0150426. DOI: 10.1371/journal.pone.0150426 (2016)

  • Pitfalls in genetic testing: the story of missed SCN1A mutations, Molecular Genetics and Genomic
    Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al., EuroEPINOMICS-RES Dravet working group
    Medicine, . Apr 14;4(4):457-64. DOI: 10.1002/mgg3.217 (2016)

  • Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia.
    Kurt S, Cevik B, Aksoy D, Sahbaz EI, Gundogdu Eken A, Basak AN.
    Case Rep Neurol Med. . 2016;2016:4515938. doi: 10.1155/2016/4515938.

  • NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.Kenna KP,
    van Doormaal PT, Dekker AM, et al. Nat Genet. . 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626.

  • “Editorial “Stem Cells: Biology, Genetics, and Epigenetics”
    Cagavi, E., Ozoren, N.
    TURKISH JOURNAL OF BIOLOGY Volume: . 40 Issue: 5 Pages: I-II, 2016

  • Lallemand-Breitenbach V. Detection of Protein SUMOylation In Situ by Proximity Ligation Assays.
    Sahin U, Jollivet F, Berthier C, de Thé H,
    Methods Mol Biol. . 2016;1475:139-50. doi: 10.1007/978-1-4939-6358-4_10.

  • The Plant Hormone Cytokinin Confers Protection against Oxidative Stress in Mammalian Cells.
    Othman EM, Naseem M, Awad E, Dandekar T, Stopper H.
    PLoS One. . 2016 Dec 22;11(12):e0168386. doi: 10.1371/journal.pone.0168386.

2015
  • FlyOde - a platform for community curation and interactive visualization of dynamic gene regulatory networks in Drosophila eye development
    Köstler SA, Alaybeyoğlu B, Weichenberger CX, Çelik A
    F1000Research, 2015, 4:1484-9.

  • Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
    Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A.
    Genet Med, 2015, doi: 10.1038/gim.2015.139.

  • RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
    Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S.
    Am J Med Genet A, 2015, doi: 10.1002/ajmg.a.37299.

  • Artificial Loading of ASC Specks with Cytosolic Antigens.
    Sahillioğlu AC, Özören N.
    PLoS One, 2015, 10(8):e0134912. doi: 10.1371/journal.pone.0134912.

  • Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
    Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.
    Cell Rep, 2015, pii: S2211-1247(15)00763-9. doi: 10.1016/j.celrep.2015.07.023.

  • Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.
    Kurt S, Kartal E, Aksoy D, Cevik B, Eken AG, Sahbaz I, Nazli Basak A.
    J Neurol Sci, 2015, pii: S0022-510X(15)00391-3. doi: 10.1016/j.jns.2015.06.050.

  • Large-scale recent expansion of European patrilineages shown by population resequencing.
    Batini C, Hallast P, Zadik D, Delser PM, Benazzo A, Ghirotto S, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Dupuy BM, Eriksen HA, King TE, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Tolun A, Winney B, Jobling MA.
    Nat Commun, 2015, 6:7152. doi: 10.1038/ncomms8152.

  • Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
    Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J.
    Hum Mol Genet, 2015, 24(8):2218-27. doi: 10.1093/hmg/ddu740.

  • Both Ubiquitin Ligases FBXW8 and PARK2 Are Sequestrated into Insolubility by ATXN2 PolyQ Expansions, but Only FBXW8 Expression Is Dysregulated.
    Halbach MV, Stehning T, Damrath E, Jendrach M, Şen NE, Başak AN, Auburger G.
    PLoS One, 2015, 10(3):e0121089. doi: 10.1371/journal.pone.0121089.

  • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
    Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.
    Nat Genet, 2015, doi: 10.1038/ng.3239.

  • Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.
    Hanagasi HA, Bilgiç B, Abbink TE, Hanagasi F, Tüfekçioğlu Z, Gürvit H, Başak N, van der Knaap MS, Emre M.
    Parkinsonism Relat Disord, 2015, pii: S1353-8020(15)00068-1. doi: 10.1016/j.parkreldis.2015.02.013.

  • The phenotypic spectrum of SCN8A encephalopathy.
    Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP.
    Neurology, 2015, 84(5):480-9. doi: 10.1212/WNL.0000000000001211.

  • Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies.
    Bayrak AO, Bayrak IK, Battaloglu E, Ozes B, Yildiz O, Onar MK.
    Neurol Res, 2015, 37(2):106-11. doi: 10.1179/1743132814Y.0000000411.

  • Antibacterial photodynamic therapy with 808-nm laser and indocyanine green on abrasion wound models.
    Topaloglu N, Güney M, Yuksel S, Gülsoy M.
    J Biomed Opt, 2015, 20(2):28003. doi: 10.1117/1.JBO.20.2.028003.

  • Causes of individual differences in adolescent optimism: a study in Dutch twins and their siblings.
    Mavioğlu RN, Boomsma DI, Bartels M.
    Eur Child Adolesc Psychiatry, 2015.

  • Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
    Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A.
    Neurogenetics, 2015, 16(1):33-42. doi: 10.1007/s10048-014-0422-0.

  • The distinct genetic pattern of ALS in Turkey and novel mutations.
    Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken AG, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın MA, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak AN.
    Neurobiol Aging, 2015, pii: S0197-4580(14)00849-5. doi: 10.1016/j.neurobiolaging.2014.12.032.

  • Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
    Yüceyar N, Ayhan Ö, Karasoy H, Tolun A
    Neuromuscul Disord, 2015, pii: S0960-8966(15)00026-7. doi: 10.1016/j.nmd.2015.01.007.

  • Essential role of IRF4 and MYC signaling for survival of anaplastic large cell lymphoma.
    Weilemann A, Grau M, Erdmann T, Merkel O, Sobhiafshar U, Anagnostopoulos I, Hummel M, Siegert A, Hayford C, Madle H, Wollert-Wulf B, Fichtner I, Dörken B, Dirnhofer S, Mathas S, Janz M, Emre NC, Rosenwald A, Ott G, Lenz P, Tzankov A, Lenz G.
    Blood, 2015, 125(1):124-32. doi: 10.1182/blood-2014-08-594507.

2014
  • Mapping gene regulatory networks in Drosophila eye development by large-scale transcriptome perturbations and motif inference.
    Potier D, Davie K, Hulselmans G, Naval Sanchez M, Haagen L, Huynh-Thu VA, Koldere D, Celik A, Geurts P, Christiaens V, Aerts S.
    Cell Rep, 2014, 9(6):2290-303. doi: 10.1016/j.celrep.2014.11.038.

  • The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades.
    Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Destro Bisol G, Dupuy BM, Eriksen HA, Jorde LB, King TE, Larmuseau MH, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Schempp W, Sears M, Tolun A, Tyler-Smith C, Van Geystelen A, Watkins S, Winney B, Jobling MA.
    Mol Biol Evol, 2014, pii: msu327.

  • Structural and dynamics aspects of ASC speck assembly.
    Sahillioglu AC, Sumbul F, Ozoren N, Haliloglu T.
    Structure, 2014, 22(12):1722-34. doi: 10.1016/j.str.2014.09.011.

  • Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa.
    Alkan C, Kavak P, Somel M, Gokcumen O, Ugurlu S, Saygi C, Dal E, Bugra K, Güngör T, Sahinalp SC, Özören N, Bekpen C.
    BMC Genomics 2014 Nov 7;15:963. doi: 10.1186/1471-2164-15-963.

  • Essential role of IRF4 and MYC signaling for survival of anaplastic large cell lymphoma.
    Weilemann A, Grau M, Erdmann T, Merkel O, Sobhiafshar U, Anagnostopoulos I, Hummel M, Siegert A, Hayford C, Madle H, Wollert-Wulf B, Fichtner I, Dörken B, Dirnhofer S, Mathas S, Janz M, Emre NC, Rosenwald A, Ott G, Lenz P, Tzankov A, Lenz G.
    Blood, 2015, 125(1):124-32. doi: 10.1182/blood-2014-08-594507.

  • Overexpressed NLRC3 Acts as an Anti-Inflammatory Cytosolic Protein.
    Gültekin Y, Eren E, Ozören N.
    J Innate Immun, 2015, 7(1):25-36. doi: 10.1159/000363602.

  • A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
    Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ.
    Cell, 2014, 159(1):200-14. doi: 10.1016/j.cell.2014.09.002.

  • High-fat-diet-mediated dysbiosis promotes intestinal carcinogenesis independently of obesity.
    Schulz MD, Atay C, Heringer J, Romrig FK, Schwitalla S, Aydin B, Ziegler PK, Varga J, Reindl W, Pommerenke C, Salinas-Riester G, Böck A, Alpert C, Blaut M, Polson SC, Brandl L, Kirchner T, Greten FR, Polson SW, Arkan MC.
    Nature, 2014, 514(7523):508-12. doi:10.1038/nature13398.

  • FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.
    Gündüz A, Eken AG, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Başak AN, Ertan S.
    Parkinsonism Relat Disord, 2014, 20(11):1253-6. doi: 10.1016/j.parkreldis.2014.07.016.

  • Ochratoxin A activates opposing c-MET/PI3K/Akt and MAPK/ERK 1-2 pathways in human proximal tubule HK-2 cells.
    Ozcan Z, Gül G, Yaman I.
    Arch Toxicol, 2014.

  • Novel recessive cone-rod dystrophy caused by POC1B mutation.
    Durlu YK, Köroğlu Ç, Tolun A.
    JAMA Ophthalmol, 2014, 132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658.

  • The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome.
    Lahut S, Vadasz D, Depboylu C, Ries V, Krenzer M, Stiasny-Kolster K, Basak AN, Oertel WH, Auburger G.
    Neurogenetics, 2014, 15(3):189-92. doi: 10.1007/s10048-014-0407-z.

  • Motor protein mutations cause a new form of hereditary spastic paraplegia.
    Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R.
    Neurology, 2014, 82(22):2007-16. doi: 10.1212/WNL.0000000000000479.

  • A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients.
    Fidancı ID, Zülfikar B, Kavaklı K, Ar MC, Kılınç Y, Başlar Z, Cağlayan SH.
    Turk J Haematol, 2014, 31(1):17-24. doi: 10.4274/Tjh.2012.0197

  • Transcriptome analysis of salt tolerant common bean (Phaseolus vulgaris L.) under saline conditions.
    Hiz MC, Canher B, Niron H, Turet M.
    PLoS One, 2014, 9(3):e92598. doi: 10.1371/journal.pone.0092598.

  • Adult phenotype and further phenotypic variability in SRD5A3-CDG.
    Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A.
    BMC Med Genet, 2014, 15:10. doi: 10.1186/1471-2350-15-10.

  • Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
    Ayhan Ö, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A.
    J Med Genet, 2014, 51(4):239-44. doi: 10.1136/jmedgenet-2013-102102.

  • Binary cell fate decisions and fate transformation in the Drosophila larval eye.
    Mishra AK, Tsachaki M, Rister J, Ng J, Celik A, Sprecher SG.
    PLoS Genet, 2013, 9(12):e1004027. doi: 10.1371/journal.pgen.1004027.

  • Cilium assembly: delivery of tubulin by kinesin-2-powered trains.
    Scholey JM.
    Curr Biol, 2013, 23(21):R956-9. doi: 10.1016/j.cub.2013.09.032.

  • Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
    Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR.
    Genet Med, 2014, 16(5):386-94. doi: 10.1038/gim.2013.155.

  • Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behçet's syndrome patients.
    Yüksel Ş, Eren E, Hatemi G, Sahillioğlu AC, Gültekin Y, Demiröz D, Akdiş C, Fresko İ, Özören N.
    Int Immunol, 2014, 26(2):71-81. doi: 10.1093/intimm/dxt046.

2013
  • A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.
    Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, Helgason AS, Sigurdsson MI, Meltzer PS, Merlino G, Petit V, Larue L, Loftus SK, Adams DR, Sobhiafshar U, Emre NC, Pavan WJ, Cornell R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E.
    Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022.

  • Odorant receptor gene choice and axonal wiring in mice with deletion mutations in the odorant receptor gene SR1.
    Fuss SH, Zhu Y, Mombaerts P.
    Mol Cell Neurosci. 2013 Sep;56:212-24. doi: 10.1016/j.mcn.2013.05.002.

  • Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.
    Uyan Ö, Ömür Ö, Ağım ZS, Özoğuz A, Li H, Parman Y, Deymeer F, Oflazer P, Koç F, Tan E, Özçelik H, Başak AN.
    PLoS One. 2013 Aug 26;8(8):e72381. doi: 10.1371/journal.pone.0072381.

  • A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.
    Yıldırım Y, Kerem M, Köroğlu Ç, Tolun A.
    Eur J Hum Genet. 2014 Mar;22(3):333-7. doi: 10.1038/ejhg.2013.138.

  • Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
    Köroğlu Ç, Seven M, Tolun A.
    J Med Genet. 2013 Aug;50(8):515-20. doi: 10.1136/jmedgenet-2013-101634.

  • A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.
    Arslan M, Yiş U, Cağlayan H, Akin R.
    Neural Regen Res. 2013 Apr 5;8(10):955-8. doi: 10.3969/j.issn.1673-5374.2013.10.011.

  • TBC1D24 truncating mutation resulting in severe neurodegeneration.
    Guven A, Tolun A.
    J Med Genet. 2013 Mar;50(3):199-202. doi: 10.1136/jmedgenet-2012-101313.

  • Temporal patterning of Drosophila medulla neuroblasts controls neural fates.
    Li X, Erclik T, Bertet C, Chen Z, Voutev R, Venkatesh S, Morante J, Celik A, Desplan C.
    Nature. 2013 Jun 27;498(7455):456-62. doi: 10.1038/nature12319.

  • Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia.
    Agim ZS, Esendal M, Briollais L, Uyan O, Meschian M, Martinez LA, Ding Y, Basak AN, Ozcelik H.
    PLoS One. 2013;8(1):e53042. doi: 10.1371/journal.pone.0053042.

  • DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.
    Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A.
    Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006.

  • The central theme of Parkinson's disease: α-synuclein.
    Ozansoy M, Başak AN.
    Mol Neurobiol. 2013 Apr;47(2):460-5. doi: 10.1007/s12035-012-8369-3.

2012
  • Are alsin and spartin novel interaction partners?
    Çobanoğlu G, Ozansoy M, Başak AN.
    Biochem Biophys Res Commun. 2012 Oct 12;427(1):1-4. doi: 10.1016/j.bbrc.2012.08.103.

  • ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.
    Lahut S, Ömür Ö, Uyan Ö, Ağım ZS, Özoğuz A, Parman Y, Deymeer F, Oflazer P, Koç F, Özçelik H, Auburger G, Başak AN.
    PLoS One. 2012;7(8):e42956. doi: 10.1371/journal.pone.0042956.

  • Meiotic recombinations within major histocompatibility complex of human embryos.
    Taylan F, Altiok E.
    Immunogenetics. 2012 Nov;64(11):839-44. doi: 10.1007/s00251-012-0644-y.

  • Temperature dependence of accuracy of DNA polymerase I from Geobacillus anatolicus.
    Cağlayan M, Bilgin N.
    Biochimie. 2012 Sep;94(9):1968-73. doi: 10.1016/j.biochi.2012.05.019.

  • MENA is a transcriptional target of the Wnt/beta-catenin pathway.
    Najafov A, Seker T, Even I, Hoxhaj G, Selvi O, Ozel DE, Koman A, Birgül-İyison N.
    PLoS One. 2012;7(5):e37013. doi: 10.1371/journal.pone.0037013.

  • Mutant superoxide dismutase-1 indistinguishable from wild type causes ALS.
    Synofzik M, Ronchi D, Keskin I, Basak AN, Wilhelm C, Gobbi C, Birve A, Biskup S, Zecca C, Fernández-Santiago R, Kaugesaar T, Schöls L, Marklund SL, Andersen PM.
    Hum Mol Genet. 2012 May 16.

  • Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
    Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A.
    Neurogenetics. 2012 Aug;13(3):189-94. doi: 10.1007/s10048-012-0326-9.

  • Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region.
    Bekpen C, Tastekin I, Siswara P, Akdis CA, Eichler EE.
    Genome Res. 2012 Apr 11.

  • Born to run: patterning the Drosophila olfactory system.
    Bayramli X, Fuss SH.
    Dev Cell. 2012 Feb 14;22(2):240-1. doi: 10.1016/j.devcel.2012.01.023.

  • High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
    Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.
    Clin Genet. 2013 Jan;83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x

  • Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.
    Salar S, Yeni N, Gündüz A, Güler A, Gökçay A, Velioğlu S, Gündoğdu A, Hande Çağlayan S.
    Epilepsy Res. 2012 Feb;98(2-3):273-6. doi: 10.1016/j.eplepsyres.2011.09.020.

2011
  • Genetic variation within and between winter wheat genotypes from Turkey, Kazakhstan, and Europe as determined by nucleotide-binding-site profiling.
    Sayar-Turet M, Dreisigacker S, Braun HJ, Hede A, MacCormack R, Boyd LA.
    Genome, May;54(5):419-30, 2011.

  • A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
    Yıldırım Y, Orhan EK, Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoğlu S, Tolun A.
    Hum Mol Genet. May 15;20(10):1886-92, 2011.

  • An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.
    Yalçin O, Baykan B, Ağan K, Yapici Z, Yalçin D, Dizdarer G, Türkdoğan D, Ozkara C, Unalp A, Uludüz D, Gül G, Kuşcu D, Ayta S, Tutkavul K, Comu S, Tatli B, Meral C, Bebek N, Cağlayan SH.
    Epilepsia. May;52(5):975-83, 2011.

  • The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
    Yildirim Y, Tolun A, Tüysüz B.
    Am J Med Genet A. Jan;155A(1):134-40, 2011.

  • Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
    Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP.
    Nat Genet. 2011 Mar 20;43(4):295-301.

  • Genetic predisposition to β-thalassemia and sickle cell anemia in Turkey: a molecular diagnostic approach.
    Basak AN, Tuzmen S.
    Methods Mol Biol. 2011;700:291-307.

  • Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.
    Deymeer F, Matur Z, Poyraz M, Battaloglu E, Oflazer-Serdaroglu P, Parman Y.
    Muscle Nerve. 2011 May;43(5):657-64

  • Feedback from rhodopsin controls rhodopsin exclusion in Drosophila photoreceptors.
    Vasiliauskas D, Mazzoni EO, Sprecher SG, Brodetskiy K, Johnston Jr RJ, Lidder P, Vogt N, Celik A, Desplan C.
    Nature. 2011 Oct 9. doi: 10.1038/nature10451

  • The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
    Yildirim Y, Tolun A, Tüysüz B.
    Am J Med Genet A. 2011 Jan;155A(1):134-40. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9.

  • Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein.
    Enunlu I, Ozansoy M, Basak AN.
    Biochem Biophys Res Commun. 2011 Sep 30;413(3):471-5.

  • Cloning and sequence analysis of novel DNA polymerases from thermophilic Geobacillus species isolated from hot springs in Turkey: characterization of a DNA polymerase I from Geobacillus kaue strain NB.
    Çağlayan M, Bilgin N.
    Appl Biochem Biotechnol. 2011 Nov;165(5-6):1188-200.

  • T-cell and antibody responses to phospholipase A2 from different species show distinct cross-reactivity patterns.
    Sin BA, Akdis M, Zumkehr J, Bezzine S, Bekpen C, Lambeau G, Akdis CA.
    Allergy. 2011 Dec;66(12):1513-21. doi: 10.1111/j.1398-9995.2011.02689.x.

  • Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
    Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T.
    Genome Res. 2011 Dec;21(12):1995-2003.

2010
  • Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: Relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.
    Behunova, J., Zavadilikova, E., Bozoğlu, T.M., Gündüz, A., Tolun, A., Yalçınkaya, C.
    Clinical Dysmorphology, 19, 3, 107-118, 2010.

  • Human IRGM gene "to be or not to be.
    Bekpen, C., Xavier, R.J., Eichler, E.E.
    Seminars in Immunopathology, 32, 4, 437-444, 2010.

  • Presence of a common haplotype in the Turkish vwd patients.
    Berber, E., Dağdemir, A., Pehlevan, F., Akın, M., Kavaklı, K., Çağlayan, S.
    Haemophilia, 16, 147-147, 2010.

  • Early onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.
    Duru, N., İşeri, S.A.U., Selçuk, N., Tolun, A.
    Journal of Neurogenetics, 24, 4, 207-215, 2010.

  • A novel recessive gucy2d mutation causing cone rod dystrophy and not leber's congenital amaurosis.
    İşeri, S.A.U., Durlu, Y.K., Tolun, A.
    European Journal of Human Genetics, 18, 10, 1121-1126, 2010.

  • Phenotypic differences in a large family with Kennedy's disease from the middle Black Sea region of Turkey.
    Karaer, H., Kaplan, Y., Kurt, S., Gündoğdu, A., Erdoğan, B., Başak, N.A.
    Amyotrophic Lateral Sclerosis, 11, 1-2, 148-153, 2010.

  • Analysis of the wnt/b catenin/tcf4 pathway using sage, genome wide microarray and promoter analysis: identification of bri3 and hsf2 as novel targets.
    Kavak, E., Najafov, A., Öztürk, N., Şeker, T., Çavuşoğlu, K., Aslan, T., Duru, A.D., Saygılı, T., Hoxhaj, G., Hiz, M.C., Ünal, D.O., Birgül-İyison, N., Öztürk, M., Koman, A.
    Cellular Signalling, 22, 10, 1523-1535, 2010.

  • Meta analysis Of cancer gene expression signatures reveals new cancer genes, sage tags and tumor associated regions of co regulation.
    Kavak, E., Ünlü, M., Nister, M., Koman, A.
    Nucleic Acids Research, 38, 20, 7008-7021, 2010.

  • Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.
    Kurt, S., Karaer, H., Kaplan, Y., Akat, I., Battaloğlu, E., Eruslu, D., Başak, A.N.
    Journal of the Neurological Sciences, 288, 1-2, 197-199, 2010.

  • Parkinson's disease related lrrk2 g2019s mutation results from independent mutational events in humans.
    Lesage, S., Patin, E., Condroyer, C., Başak, A.N., et al.
    Human Molecular Genetics, 19, 10, 1998-2004, 2010.

  • Determination of plant traits of dwarf fresh bean lines with Ayşe kadın’ characteristics and gene loci for the resistance to anthracnose (colletotrichum lindemuthianum ( sacc. & magnus ) lambs. scrib.) disease.
    Madakbaş, S.Y., Ergin, M., Özçelik, H., Türet-Sayar, M.
    Journal of Applied Biological Sciences (JABS) , 4, 2, 22-28, 2010.

  • Control of ciliogenesis by for20, a novel centrosome and pericentriolar satellite protein.
    Sedjai, F., Acquaviva, C., Chevrier, V., Chauvin, J.P., Coppin, E., Aouane, A., Coulier, F., Tolun, A., Pierres, M., Birnbaum, D., Rosnet, O.
    Journal of Cell Science, 123, 14, 2391-2401, 2010.

  • Familial Mediterranean Fever as an Emerging Clinical Model of Atherogenesis Associated with Low-Grade Inflammation.
    Yüksel, S., Ayvazyan, L., Gasparyan, A.Y.
    The Open Cardiovascular Medicine Journal, 32-37, 2010.

2009
  • A multiplexed arms PCR approach for the detection of common MECP2 mutations.
    Barış, I., Battaloğlu, E.
    Genetic Testing and Molecular Biomarkers, 13, 1, 19-22, 2009.

  • Bell's palsy and choreiform movements during peginterferon alpha and ribavirin therapy.
    Barut, S., Karaer, H., Öksüz, E., Eken, A.G., Başak, A.N.
    World Journal of Gastroenterology, 15, 29, 3694-3696, 2009.

  • Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: A case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade.
    Bayrak, A.O., Battaloğlu, E., Türker, H., Barış, I., Öztaş, G.
    Brain & Development, 31, 6, 445-448, 2009.

  • Low dose vincristine-induced severe polyneuropathy in a hodgkin lymphoma patient a case report (vincristine-induced severe polyneuropathy).
    Çil, T., Altıntaş, A., Tamam, Y., Battaloğlu, E., Işıkdoğan, A.
    Journal of Pediatric Hematology Oncology, 31, 10, 787-789, 2009.

  • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance.
    Dibbens, L.M., Mullen, S., Çağlayan, H., et al.,
    Human Molecular Genetics, 18, 19, 3626-3631, 2009.

  • Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.
    Dursun, U., Köroğlu, C., Orhan, E.K., Uğur, S.A., Tolun, A.
    Neurogenetics, 10, 4, 325-331, 2009.

  • Miyotonik distrofi: Kural tanımayan bir üçlü-tekrar hastalığının moleküler biyolojisi ve TP-PCR yöntemi ile DNA tanısı.
    Eruslu, D., Başak, A.N.,
    Parkinson Hastalığı ve Hareket Bozuklukları Dergisi, 12, 39-52, 2009.

  • SR1, a mouse odorant receptor with an unusually broad response profile.
    Grosmaitre, X., Fuss, S.H., Lee, A.C., Adipietro, K.A., Matsunami, H., Mombaerts, P., Ma, M.H.
    Journal of Neuroscience, 29, 46, 14545-14552, 2009.

  • Mitochondrial pathology in muscle of a patient with a novel parkin mutation.
    Hanagasi, H.A., Serdaroğlu, P., Ozansoy, M., Başak, N., Taşlı, H., Emre, M.
    International Journal of Neuroscience, 119, 10, 1572-1583, 2009.

  • Reduced expression of the kinesinassociated protein 3 (kifap3) gene increases survival in sporadic amyotrophic lateral sclerosis.
    Landers, J.E., Melki, J., Meininger, V., Özoğuz, A., et al.
    Proceedings of the National Academy of Sciences of the United States of America, 106, 22, 9004-9009, 2009.

  • A putative role for human BFK in DNA damage-induced apoptosis.
    Özören, N., Inohara, N., Núñez, G.
    Biotechnology Journal, 4, 7, 1046-1054, 2009.

  • Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
    Phylipsen, M., Amato, A., Cappabianca, M.P., Traeger-Synodinos, J., Kanavakis, E., Başak, N., et al.
    Haematologica the Hematology Journal, 94, 9, 1289-1292, 2009.

  • A lrrk2 g2019s mutation carrier from Turkey shares the Japanese haplotype.
    Pirkevi, C., Lesage, S., Condroyer, C., Tomiyama, H., Hattori, N., Ertan, S., Brice, A., Başak, A.N.
    Neurogenetics, 10, 3, 271-273, 2009.

  • Delayed diagnosis of a neurobehcet patient with only brainstem and cerebellar atrophy: Literature review.
    Taşkapılıoğlu, O., Seferoğlu, M., Akkaya, C., Hakyemez, B., Yusufoğlu, C., Başak, A.N., Gündoğdu, A., Bora, I.
    Journal of the Neurological Sciences, 277, 1-2, 160-163, 2009.

  • Dentatorubral pallidoluysian atrophy in a Turkish family.
    Yiş, U., Dirik, E., Gündoğdu-Eken, A., Başak, A.N.
    Turkish Journal of Pediatrics, 51, 6, 610-612, 2009.

  • Two young sisters with spinocerebellar ataxia type 2 showing different clinical progression of disease.
    Yiş, U., Dirik, E., Kurul, S.H., Eken, A.G., Başak, A.N.
    Cerebellum, 8, 2, 127-129, 2009.

  • Mapping of Class I and Class II Odorant Receptors to Glomerular Domains by Two Distinct Types of Olfactory Sensory Neurons in the Mouse.
    Bozza T, Vassalli A, Fuss S, Zhang JJ, Weiland B, Pacifico R, Feinstein, P, and Mombaerts P.
    Neuron, 2009,61(2):220-233.

  • A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype.
    Pirkevi C, Lesage S, Condroyer C, Tomiyama H, Hattori N, Ertan S, Brice A, Başak AN .
    Neurogenetics. 2009 Jan 27.

2008
  • Prenatal Expressions of Hyperpolarization-activated Cyclic-Nucleotide-Gated Channel (HCN) Genes in Dysplastic Hippocampi in Rats.
    Işler C, Tanriverdı T, Kavak E, Sanus GZ, Ulu MO, Erkanli G, Koman A, Iyıson NB, Uzan M.
    Turk Neurosurg. 2008;18(4):327-335.

  • Two Young Sisters with Spinocerebellar Ataxia Type 2 Showing Different Clinical Progression of Disease.
    Yiş U, Dirik E, Kurul SH, Eken AG, Başak AN.
    Cerebellum. 2008 Nov 21

  • Delayed diagnosis of a neuroBehçet patient with only brainstem and cerebellar atrophy: Literature review.
    Taskapilioglu O, Seferoglu M, Akkaya C, Hakyemez B, Yusufoglu C, Basak AN, Gundogdu A, Bora I.
    J Neurol Sci. 2008 Nov 10.

  • Coinheritance of sickle cell anemia and hereditary spherocytosis.
    Selcuk Duru N, Celkan T, Civilibal M, Ozbek NO, Basak AN, Elevli M.
    Pediatr Blood Cancer. 2008 Oct;51(4):560-3.

  • Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey.
    Karaer H, Kaplan Y, Kurt S, Gundogdu A, Erdoğan B, Basak NA.
    Amyotroph Lateral Scler. 2008 Sep 26:1-6.

  • Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: A case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade.
    Bayrak AO, Battaloglu E, Turker H, Baris I, Oztas G.
    Brain Dev. 2008 Aug 28.

  • Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors.
    Fidanci ID, Kavakl K, Uçar C, Timur C, Meral A, Kilinç Y, Sayilan H, Kazanci E, Cağlayan SH.
    Blood Coagul Fibrinolysis. 2008 Jul;19(5):383-8.

  • Iroquois complex genes induce co-expression of rhodopsins in Drosophila.
    Mazzoni EO, Celik A, Wernet MF, Vasiliauskas D, Johnston RJ, Cook TA, Pichaud F, Desplan C.
    PLoS Biol. 2008 Apr 22;6(4):e97.

  • Can you tBID on it?
    Yüksel S, Ozören N.
    Cancer Biol Ther. 2008 Nov 8;7(11).

  • Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.
    Ugur SA, Tolun A.
    Hum Mol Genet. 2008 Sep 1;17(17):2644-53.

  • A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
    Ugur SA, Tolun A.
    Eur J Hum Genet. 2008 Feb;16(2):261-4.

2007
  • Spinocerebellar ataxia type 2 in a Turkish family.
    Dirik E, Yiş U, Başak N, Soydan E, Hüdaoğlu O, Ozgönül F.
    J Child Neurol. 2007 Jul;22(7):891-4.

  • The molecular pathology of beta-thalassemia in Turkey: the Boğaziçi university experience.
    Basak AN.
    Hemoglobin. 2007;31(2):233-41.

  • Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
    Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J.
    Am J Hum Genet. 2007 Jul;81(1):158-64.

  • X-linked Charcot-Marie-Tooth disease and multiple sclerosis.
    Parman Y, Ciftci F, Poyraz M, Halefoglu AM, Oge AE, Eraksoy M, Saruhan-Direskeneli G, Deymeer F, Battaloglu E.
    J Neurol. 2007 Jul;254(7):953-5.

  • A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).
    Yalçin O, Cağlayan SH, Saltik S, Cokar O, Ağan K, Dervent A, Steinlein OK.
    Turk J Pediatr. 2007 Oct-Dec;49(4):385-9.

  • Generation of uniform fly retinas.
    Wernet MF, Celik A, Mikeladze-Dvali T, Desplan C.
    Curr Biol. 2007 Dec 4;17(23):R1002-3.

  • Generating patterned arrays of photoreceptors.
    Morante J, Desplan C, Celik A.
    Curr Opin Genet Dev. 2007 Aug;17(4):314-9. Epub 2007 Jul 5.

  • Olfactory identity kicked up a NOTCH.
    Fuss S, Celik A, Desplan C.
    Nat Neurosci. 2007 Feb;10(2):138-40.

  • Local and cis effects of the H element on expression of odorant receptor genes in mouse.
    Fuss SH, Omura M, Mombaerts P.
    Cell. 2007 Jul 27;130(2):373-84.

  • Transfer of nisin gene cluster from Lactococcus lactis ATCC 11454 into the chromosome of Bacillus subtilis 168.
    Yuksel S, Hansen JN.
    Appl Microbiol Biotechnol. 2007 Mar;74(3):640-9.

2006
  • Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
    Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O.
    Hum Genet. 2006 Sep;120(2):285-92.

  • The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
    Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Balikó L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O.
    Neurogenetics. 2006 Mar;7(1):27-30.

  • A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.
    Baris I, Arisoy AE, Smith A, Agostini M, Mitchell CS, Park SM, Halefoglu AM, Zengin E, Chatterjee VK, Battaloglu E.
    J Clin Endocrinol Metab. 2006 Oct;91(10):4183-7.

  • A large family with Charcot-Marie-Tooth Type 1a and Type 2 diabetes mellitus.
    Koç F, Sarica Y, Yerdelen D, Baris I, Battaloglu E, Sert M.
    Int J Neurosci. 2006 Feb;116(2):103-14.

  • Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.
    Berber E, Fidanci ID, Un C, El-Maarri O, Aktuglu G, Gurgey A, Celkan T, Meral A, Oldenburg J, Graw J, Akar N, Caglayan H.
    Haemophilia. 2006 Jul;12(4):398-400.

  • The slow Wallerian degeneration protein, WldS, binds directly to VCP/p97 and partially redistributes it within the nucleus.
    Laser H, Conforti L, Morreale G, Mack TG, Heyer M, Haley JE, Wishart TM, Beirowski B, Walker SA, Haase G, Celik A, Adalbert R, Wagner D, Grumme D, Ribchester RR, Plomann M, Coleman MP.
    Mol Biol Cell. 2006 Mar;17(3):1075-84.

  • Stochastic spineless expression creates the retinal mosaic for colour vision.
    Wernet MF, Mazzoni EO, Celik A, Duncan DM, Duncan I, Desplan C.
    Nature. 2006 Mar 9;440(7081):174-80.

  • Regulation of Legionella phagosome maturation and infection through flagellin and host Ipaf.
    Amer A, Franchi L, Kanneganti TD, Body-Malapel M, Ozören N, Brady G, Meshinchi S, Jagirdar R, Gewirtz A, Akira S, Núñez G.
    J Biol Chem. 2006 Nov 17;281(46):35217-23.

  • Cytosolic flagellin requires Ipaf for activation of caspase-1 and interleukin 1beta in salmonella-infected macrophages.
    Franchi L, Amer A, Body-Malapel M, Kanneganti TD, Ozören N, Jagirdar R, Inohara N, Vandenabeele P, Bertin J, Coyle A, Grant EP, Núñez G.
    Nat Immunol. 2006 Jun;7(6):576-82.

  • Distinct roles of TLR2 and the adaptor ASC in IL-1beta/IL-18 secretion in response to Listeria monocytogenes.
    Ozören N, Masumoto J, Franchi L, Kanneganti TD, Body-Malapel M, Ertürk I, Jagirdar R, Zhu L, Inohara N, Bertin J, Coyle A, Grant EP, Núñez G.
    J Immune. 2006 Apr 1;176(7):4337-42.

  • Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3.
    Kanneganti TD, Ozören N, Body-Malapel M, Amer A, Park JH, Franchi L, Whitfield J, Barchet W, Colonna M, Vandenabeele P, Bertin J, Coyle A, Grant EP, Akira S, Núñez G.
    Nature. 2006 Mar 9;440(7081):233-6.

  • Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
    Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A.
    Am J Hum Genet. 2006 Oct;79(4):650-6.

  • Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.
    Sonmez FM, Celep F, Ugur SA, Tolun A.
    J Child Neurol. 2006 Apr;21(4):333-7.

2005
  • Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis.
    Fraser SP, Diss JK, Chioni AM, Mycielska ME, Pan H, Yamaci RF, Pani F, Siwy Z, Krasowska M, Grzywna Z, Brackenbury WJ, Theodorou D, Koyutürk M, Kaya H, Battaloglu E, De Bella MT, Slade MJ, Tolhurst R, Palmieri C, Jiang J, Latchman DS, Coombes RC, Djamgoz MB.
    Clin Cancer Res. 2005 Aug 1;11(15):5381-9.

  • Acidic fibroblast growth factor (FGF-1) and FGF receptor 1 signaling in human Y79 retinoblastoma.
    Siffroi-Fernandez S, Cinaroglu A, Fuhrmann-Panfalone V, Normand G, Bugra K, Sahel J, Hicks D.
    Arch Ophthalmol. 2005 Mar;123(3):368-76.

  • Expression and possible function of fibroblast growth factor 9 (FGF9) and its cognate receptors FGFR2 and FGFR3 in postnatal and adult retina.
    Cinaroglu A, Ozmen Y, Ozdemir A, Ozcan F, Ergorul C, Cayirlioglu P, Hicks D, Bugra K.
    J Neurosci Res. 2005 Feb 1;79(3):329-39.

  • A rat model of slow Wallerian degeneration (WldS) with improved preservation of neuromuscular synapses.
    Adalbert R, Gillingwater TH, Haley JE, Bridge K, Beirowski B, Berek L, Wagner D, Grumme D, Thomson D, Celik A, Addicks K, Ribchester RR, Coleman MP.
    Eur J Neurosci. 2005 Jan;21(1):271-7.

  • The Grueneberg ganglion of the mouse projects axons to glomeruli in the olfactory bulb.
    Fuss SH, Omura M, Mombaerts P.
    Eur J Neurosci. 2005 Nov;22(10):2649-54.

2004
  • Clinicopathological and genetic study of early-onset demyelinating neuropathy.
    Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G.
    Brain. 2004 Nov;127(Pt 11):2540-50.

  • Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.
    Bissar-Tadmouri N, Nelis E, Züchner S, Parman Y, Deymeer F, Serdaroglu P, De Jonghe P, Van Gerwen V, Timmerman V, Schröder JM, Battaloglu E.
    Neurology. 2004 May 11;62(9):1522-5.

  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
    Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM.
    Nat Genet. 2004 May;36(5):449-51.

  • 'One receptor' rules in sensory neurons.
    Mazzoni EO, Desplan C, Celik A.
    Dev Neurosci. 2004;26(5-6):388-95.

  • Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.
    Onengüt S, Uğur SA, Karasoy H, Yüceyar N, Tolun A.
    Neuromuscul Disord. 2004 Jan;14(1):4-9.

  • Formation of wheat (Triticum aestivum L.) embryogenic callus involves peroxide-generating germin-like oxalate oxidase.
    Caliskan M, Turet M, Cuming AC.
    Planta. 2004 May;219(1):132-40.

2003
  • Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
    Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K.
    Am J Hum Genet. 2003 Nov;73(5):1106-19.

  • Retinal pigment epithelium cell culture on surface modified poly(hydroxybutyrate-co-hydroxyvalerate) thin films.
    Tezcaner A, Bugra K, Hasirci V.
    Biomaterials. 2003 Nov;24(25):4573-83.

  • Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.
    Onay UV, Kavakli K, Kilinç Y, Gürgey A, Aktuğlu G, Kemahli S, Ozbek U, Cağlayan SH.
    Br J Haematol. 2003 Feb;120(4):656-9.

  • Cell surface Death Receptor signaling in normal and cancer cells.
    Ozören N, El-Deiry WS.
    Semin Cancer Biol. 2003 Apr;13(2):135-47.

  • Is the novel SCKL3 at 14q23 the predominant Seckel locus?
    Kilinç MO, Ninis VN, Ugur SA, Tüysüz B, Seven M, Balci S, Goodship J, Tolun A.
    Eur J Hum Genet. 2003 Nov;11(11):851-7.