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Murat Gunel MD, FACS, FAHA

Nixdorff-German Professor of Neurosurgery and Professor of Genetics and of Neurobiology; Co-Director, Yale Program on Neurogenetics; Director, Neurovascular Surgery

Research Interests

Molecular genetics and biology of brain aneurysms and cavernous malformations; Molecular genetics of brain development

Current Projects

  • Molecular Genetics of Intracranial Aneurysms
  • Molecular Genetics and Biology of Cavernous Malformations
  • Cerebral Malformations in Developmental Structural Brain Disorders



Research Summary

Within the Neurogenetics program, my lab has three major research interests: the first two relate to the molecular genetics and biology of hemorrhagic stroke, focusing on brain aneurysms and cavernous malformations, and the third centers on gene discovery in developmental structural brain disorders (cerebral malformations).

The overall approach of my lab is to start with a focus on gene discovery through modern, cutting edge molecular genetics and moving on to molecular biology and functional analysis of disease in order to design diagnostics and non-invasive novel treatments.


Selected Publications

  • Bilgüvar K, Öztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tüysüz B, Çaglayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MJ, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandas S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M: Whole exome sequencing identifies recessive mutations in severe brain malformations, Nature, 467(7312):207-10, 2010.
  • 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.
  • 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
  • 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.
  • 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.
  • 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.

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