Gunel, Murat - Yale University - Biological & Biomedical Sciences

个人简介

Dr. Murat Gunel, Professor of Neurosurgery, assumed the position of chief of Neurovascular Surgery Program in January of 2001. Dr. Gunel is a board certified neurosurgeon and is a fellow of the American College of Surgeons. He has special interest in treating brain aneurysms and vascular malformations with special emphasis on arterio-venous malformations and cavernous malformations. He also has expertise in occlusive vascular disorders such as carotid disease and gamma knife surgery (radiosurgery). His laboratory interests parallel his expertise in clinical neurovascular surgery and focus on gene discovery in disorders of the nervous system and its vasculature. Dr. Gunel's lab completed the two largest genome wide association studies (GWAS) aimed at understanding common variants that underlie intracranial aneurysm genetic risk based on the analysis of over 20,000 subjects. In addition, he is interested in the identification of genes important in human brain development through the study of rare, consanguineous families with recessive forms of malformations of cortical development. MD Istanbul University (1991) Chief Resident Yale-New Haven Hospital Resident Yale-New Haven Hospital Intern Yale-New Haven Hospital Board Certification AB of Neurological Surgery, Neurological Surgery (2002, recertified: 2013)

研究领域

Aneurysm; Brain; Genetics; Molecular Biology; Neurobiology; Neurosurgery; Hemangioma, Cavernous, Central Nervous System

近期论文

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Bilgüvar K1, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. (2010) Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemela M, Tajima A, von und zu Fraunberg M, Doczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MMB, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MCJM, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJE, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M: Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics, 42(5):420-5, 2010. Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. He Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W: Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. Sci Signal. 2010 Apr 6;3(116):ra26 L-histidine decarboxylase and Tourette's syndrome. Ercan-Sencicek G, Stillman AA, Ghosh A, Bilguvar K, O’Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Günel M and State MW. A rare dominant negative mutation in L-histidine decarboxylase implicates histaminergic neurotransmission in Tourette syndrome. New England Journal of Medicine, 362(20):1901-1908, 2010. Pro-apoptotic functions of PCDC10, the gene mutated in Cerebral Cavernous Malformation 3. Chen L, Tanriover G, Yano H, Friendlander R, Louvi A, Gunel M. (2008) Pro-apoptotic functions of PCDC10, the gene mutated in Cerebral Cavernous Malformation 3. Stroke, 40(4):1474-81, 2009. Genome-wide association identifies susceptibility loci for intracranial aneurysm in European and Japanese populations. Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, Fraunberg M, van Duijn CM, Berg LH, Mane S, Mason CE, Choi M, Gaal E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Öhman J, Breteler MMB, Wijmenga C, State MW, Rinkel GJE, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Gunel M. Genome-wide association identifies susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics: 40, 1472 – 1477, 2008. Nishimura S, Mishra-Gorur K, Park J, Surovtseva YV, Sebti SM, Levchenko A, Louvi A, Gunel M: Combined HMG-COA reductase and prenylation inhibition in treatment of CCM. Proc Natl Acad Sci U S A. 2017 May 12; 2017 May 12. PMID: 28500274 Vilarinho S, Erson-Omay EZ, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH: Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination. J Hepatol. 2017 Mar 18; 2017 Mar 18. PMID: 28323122 Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A: Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep. 2017 Mar 8; 2017 Mar 8. PMID: 28272472 Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG: Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 2017 Jan 16. PMID: 28092684 Harmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M: Integrated genomic analyses of de novo pathways underlying atypical meningiomas. Nat Commun. 2017 Feb 14; 2017 Feb 14. PMID: 28195122 Erson-Omay EZ, Henegariu O, Omay SB, Harmancı AS, Youngblood MW, Mishra-Gorur K, Li J, Özduman K, Carrión-Grant G, Clark VE, Çağlar C, Bakırcıoğlu M, Pamir MN, Tabar V, Vortmeyer AO, Bilguvar K, Yasuno K, DeAngelis LM, Baehring JM, Moliterno J, Günel M: Longitudinal analysis of treatment-induced genomic alterations in gliomas. Genome Med. 2017 Feb 2; 2017 Feb 2. PMID: 28153049 Sulkowski PL, Corso CD, Robinson ND, Scanlon SE, Purshouse KR, Bai H, Liu Y, Sundaram RK, Hegan DC, Fons NR, Breuer GA, Song Y, Mishra-Gorur K, De Feyter HM, de Graaf RA, Surovtseva YV, Kachman M, Halene S, Günel M, Glazer PM, Bindra RS: 2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity. Sci Transl Med. 2017 Feb 1. PMID: 28148839 Duran D, Jin SC, DeSpenza T Jr, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT: Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation. Hum Genome Var. 2016; 2016 Dec 8. PMID: 28018608 Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G: Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 2016 Dec 1. PMID: 27912058 Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG: Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 3; 2016 Oct 20. PMID: 27773428 Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP: ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A. 2016 Oct 4; 2016 Sep 19. PMID: 27647924 Clark VE, Harmancı AS, Bai H, Youngblood MW, Lee TI, Baranoski JF, Ercan-Sencicek AG, Abraham BJ, Weintraub AS, Hnisz D, Simon M, Krischek B, Erson-Omay EZ, Henegariu O, Carrión-Grant G, Mishra-Gorur K, Durán D, Goldmann JE, Schramm J, Goldbrunner R, Piepmeier JM, Vortmeyer AO, Günel JM, Bilgüvar K, Yasuno K, Young RA, Günel M: Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas. Nat Genet. 2016 Oct; 2016 Aug 22. PMID: 27548314 Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M: Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. J Neurosurg. 2016 Sep 9; 2016 Sep 9. PMID: 27611203