RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

[1]  A. Xu,et al.  Thirty Years of Saying NO: Sources, Fate, Actions, and Misfortunes of the Endothelium-Derived Vasodilator Mediator. , 2016, Circulation research.

[2]  D. Loiselle,et al.  Impaired ADP channeling to mitochondria and elevated reactive oxygen species in hypertensive hearts. , 2016, American journal of physiology. Heart and circulatory physiology.

[3]  A. Koizumi,et al.  A new horizon of moyamoya disease and associated health risks explored through RNF213 , 2015, Environmental Health and Preventive Medicine.

[4]  Alexander A. Morgan,et al.  Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing , 2015, G3: Genes, Genomes, Genetics.

[5]  M. Lathrop,et al.  Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia , 2015, Journal of hypertension.

[6]  Masafumi Sanefuji,et al.  Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells , 2015, Scientific Reports.

[7]  Seung-Chyul Hong,et al.  Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians? , 2015, PloS one.

[8]  D. Taura,et al.  Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo , 2015, Journal of the American Heart Association.

[9]  Kai Wang,et al.  Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan , 2015, Journal of the Neurological Sciences.

[10]  T. Nariai,et al.  Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease , 2015, Journal of the American Heart Association.

[11]  Hai Lin,et al.  Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm , 2015, PloS one.

[12]  N. Saito,et al.  Repeated de novo aneurysm formation after anastomotic surgery: Potential risk of genetic variant RNF213 c.14576G>A , 2015, Surgical neurology international.

[13]  H. Okuda,et al.  Genetic Study of Intracranial Aneurysms , 2015, Stroke.

[14]  T. Tominaga,et al.  Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease , 2015, Brain Research.

[15]  T. Tominaga,et al.  Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene , 2014, Neuroreport.

[16]  Gao T. Wang,et al.  RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease , 2014, Stroke.

[17]  Daniel L. Koller,et al.  Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7 , 2014 .

[18]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[19]  J. Michel,et al.  Angiogenesis and remodelling in human thoracic aortic aneurysms. , 2014, Cardiovascular research.

[20]  Katherine R. Smith,et al.  Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy , 2014, International journal of stroke : official journal of the International Stroke Society.

[21]  P. D. de Bakker,et al.  Genetic risk load according to the site of intracranial aneurysms , 2014, Neurology.

[22]  C. Tyler-Smith,et al.  Genome-Wide Analysis of Cold Adaptation in Indigenous Siberian Populations , 2014, PloS one.

[23]  Bo Peng,et al.  Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. , 2014, American journal of human genetics.

[24]  L. Pagani,et al.  The Andean Adaptive Toolkit to Counteract High Altitude Maladaptation: Genome-Wide and Phenotypic Analysis of the Collas , 2014, PloS one.

[25]  J. Hoseki,et al.  Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state , 2014, Scientific Reports.

[26]  T. Tominaga,et al.  Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease , 2014, Brain Research.

[27]  S. Roman,et al.  Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. , 2014, American journal of human genetics.

[28]  L. Pagani,et al.  Genome-wide evidence of Austronesian–Bantu admixture and cultural reversion in a hunter-gatherer group of Madagascar , 2014, Proceedings of the National Academy of Sciences.

[29]  T. Lehtimäki,et al.  High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms , 2014, PLoS genetics.

[30]  K. Nakao,et al.  The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality. , 2013, Biochemical and biophysical research communications.

[31]  A. Mukasa,et al.  Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion , 2013, Stroke.

[32]  K. Nakao,et al.  Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients. , 2013, Biochemical and biophysical research communications.

[33]  Iuliana Ionita-Laza,et al.  Sequence kernel association tests for the combined effect of rare and common variants. , 2013, American journal of human genetics.

[34]  Bo Li,et al.  The Expression of SPARC in Human Intracranial Aneurysms and Its Relationship with MMP-2/-9 , 2013, PloS one.

[35]  S. Nanayakkara,et al.  P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure , 2013, Environmental Health and Preventive Medicine.

[36]  A. Mukasa,et al.  Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion , 2012, Stroke.

[37]  Daniel L. Koller,et al.  Genome-Wide Association Study of Intracranial Aneurysms Confirms Role of Anril and SOX17 in Disease Risk , 2012, Stroke.

[38]  M. Guan,et al.  Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population , 2012, PloS one.

[39]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[40]  U. Bogdahn,et al.  ATP-binding cassette transporters in immortalised human brain microvascular endothelial cells in normal and hypoxic conditions , 2012, Experimental & Translational Stroke Medicine.

[41]  Yusuke Nakamura,et al.  Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. , 2012, Human molecular genetics.

[42]  A. Fujiyama,et al.  Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development , 2011, PloS one.

[43]  Helga Thorvaldsdóttir,et al.  Integrative Genomics Viewer , 2011, Nature Biotechnology.

[44]  Serafim Batzoglou,et al.  Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++ , 2010, PLoS Comput. Biol..

[45]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[46]  Katsuhito Yasuno,et al.  Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms , 2010, Journal of Human Genetics.

[47]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[48]  Lee-Jen Wei,et al.  Pooled Association Tests for Rare Variants in Exon-Resequencing Studies , 2010 .

[49]  L. Excoffier,et al.  Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows , 2010, Molecular ecology resources.

[50]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[51]  Alejandro F. Frangi,et al.  Genome-wide association study of intracranial aneurysm identifies three new risk loci , 2010, Nature genetics.

[52]  T. Ishikawa,et al.  ATP Transport in Saccular Cerebral Aneurysms at Arterial Bends , 2010, Annals of Biomedical Engineering.

[53]  A. Krogh,et al.  Ancient human genome sequence of an extinct Palaeo-Eskimo , 2010, Nature.

[54]  Richard Durbin,et al.  Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..

[55]  R. Scott,et al.  Moyamoya disease and moyamoya syndrome. , 2009, The New England journal of medicine.

[56]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[57]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[58]  D. G. Gibson,et al.  Enzymatic assembly of DNA molecules up to several hundred kilobases , 2009, Nature Methods.

[59]  V. Feigin,et al.  Worldwide stroke incidence and early case fatality reported in 56 population-based studies: a systematic review , 2009, The Lancet Neurology.

[60]  Murim Choi,et al.  Susceptibility loci for intracranial aneurysm in European and Japanese populations , 2008, Nature Genetics.

[61]  G. Rinkel,et al.  Natural history, epidemiology and screening of unruptured intracranial aneurysms. , 2008, Journal of neuroradiology. Journal de neuroradiologie.

[62]  A. Hofman,et al.  Incidental findings on brain MRI in the general population. , 2007, The New England journal of medicine.

[63]  D. Reich,et al.  Principal components analysis corrects for stratification in genome-wide association studies , 2006, Nature Genetics.

[64]  Ituro Inoue,et al.  The genetics of intracranial aneurysms , 2006, Journal of Human Genetics.

[65]  Wei He,et al.  Trends in Hospitalization and Mortality for Subarachnoid Hemorrhage and Unruptured Aneurysms in the United States , 2005, Neurosurgery.

[66]  S. Howng,et al.  Familial intracranial aneurysms. , 1998, The Kaohsiung journal of medical sciences.

[67]  L. Pérusse,et al.  Epidemiological Study of Ruptured Intracranial Aneurysms in the Saguenay-Lac-Saint-Jean region (Quebec, Canada) , 1996, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[68]  A. Algra,et al.  Risk Factors for Subarachnoid Hemorrhage A Systematic Review , 1996 .

[69]  D. Barrow,et al.  Infectious intracranial aneurysms. , 1992, Neurosurgery clinics of North America.

[70]  G. Forbes,et al.  Unruptured intracranial aneurysms and arteriovenous malformations: frequency of intracranial hemorrhage and relationship of lesions. , 1990, Journal of neurosurgery.

[71]  F. Halal,et al.  Intracranial aneurysms: a report of a large pedigree. , 1983, American journal of medical genetics.

[72]  G. Wortzman,et al.  Traumatic cerebral aneurysms , 1973, Journal of neurology, neurosurgery, and psychiatry.

[73]  Daniel P. Downes,et al.  Stromal cell-derived factor-1 promoted angiogenesis and inflammatory cell infiltration in aneurysm walls. , 2014, Journal of neurosurgery.

[74]  A. Hata,et al.  A genome-wide association study identifies RNF213 as the first Moyamoya disease gene , 2011, Journal of Human Genetics.

[75]  A. Algra,et al.  Prevalence and risk of rupture of intracranial aneurysms: a systematic review. , 1998, Stroke.

[76]  W. Stehbens The Pathology of Intracranial Arterial Aneurysms and Their Complications , 1983 .