MBG Publications by Year


2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003


2016
  • SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
    Usluer S, Salar S, Arslan M, Yiş U, Kara B, Tektürk P, Baykan B, Meral C, Türkdoğan D, Bebek N, Yalçın Çapan Ö, Gündoğdu Eken A, Çağlayan SH.
    Seizure. 2016 May 19;39:34-43. doi: 10.1016/j.seizure.2016.05.008.

  • A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?
    Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ.
    Autophagy. 2016 Apr 22:1-2.

  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
    Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C.
    J Med Genet. 2016 Mar 17. pii: jmedgenet-2015-103451. doi: 10.1136/jmedgenet-2015-103451

  • A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.
    Hanagasi HA, Giri A, Guven G, Bilgiç B, Hauser AK, Emre M, Heutink P, Basak N, Gasser T, Simón-Sánchez J, Lohmann E.
    Parkinsonism Relat Disord. 2016 Mar 3. pii: S1353-8020(16)30055-4. doi: 10.1016/j.parkreldis.2016.03.001.

  • The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes.
    Jiang Z, Luo HY, Huang S, Farrell JJ, Davis L, Théberge R, Benson KA, Riolueang S, Viprakasit V, Al-Allawi NA, Ünal S, Gümrük F, Akar N, Başak AN, Osorio L, Badens C, Pissard S, Joly P, Campbell AD, Gallagher PG, Steinberg MH, Forget BG, Chui DH.
    Br J Haematol. 2016 Mar;172(6):958-65. doi: 10.1111/bjh.13909.

  • Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
    Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M.
    Elife. 2016 Jan 26;5. pii: e12245. doi: 10.7554/eLife.12245.

  • Successful treatment of Juvenile parkinsonism with bilateral subthalamic deep brain stimulation in a 14-year-old patient with parkin gene mutation.
    Genç G, Apaydın H, Gündüz A, Poyraz Ç, Oğuz S, Yağcı S, Canaz H, Aydın S, Gündoğdu-Eken A, Başak AN, Ertan S.
    Parkinsonism Relat Disord. 2016 Jan 23. pii: S1353-8020(16)30018-9. doi: 10.1016/j.parkreldis.2016.01.018.

  • The role of reactive oxygen species in the antibacterial photodynamic treatment: photoinactivation vs proliferation.
    Topaloglu N, Guney M, Aysan N, Gulsoy M, Yuksel S.
    Lett Appl Microbiol. 2016 Mar;62(3):230-6. doi: 10.1111/lam.12538.

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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.

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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.

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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.

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    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.

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    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.

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    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.

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    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.

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    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.

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    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.

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    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.

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    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.

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    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.

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    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.