Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

[1]  E. Merello,et al.  Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West. , 2020, Journal of neurosurgical sciences.

[2]  G. Rouleau,et al.  RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population. , 2016, American journal of human genetics.

[3]  S. Miyamoto,et al.  Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease. , 2016, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

[4]  M. Brozman,et al.  RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients , 2016, PloS one.

[5]  Michael J Bamshad,et al.  Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. , 2016, American journal of human genetics.

[6]  K. Kosaki,et al.  Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy , 2016, American journal of medical genetics. Part A.

[7]  Eun Jung Koh,et al.  Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. , 2016, Journal of neurosurgery. Pediatrics.

[8]  H. Augustin,et al.  Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca(2+)/NFAT Signaling. , 2016, Developmental cell.

[9]  C. Adamsbaum,et al.  Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series , 2016, European Radiology.

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

[11]  J. Belmont,et al.  Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant , 2015, American journal of medical genetics. Part A.

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

[13]  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.

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

[15]  Iuliana Ionita-Laza,et al.  Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies , 2015, Biometrics.

[16]  Michael J E Sternberg,et al.  The Phyre2 web portal for protein modeling, prediction and analysis , 2015, Nature Protocols.

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

[18]  D. Hervé,et al.  The Application of Clinical Genetics Dovepress Moyamoya Disease and Syndromes: from Genetics to Clinical Management , 2022 .

[19]  J. Pruneda,et al.  Allosteric Activation of the RNF146 Ubiquitin Ligase by a Poly(ADP-ribosyl)ation Signal , 2014, Nature.

[20]  T. Nariai,et al.  Systematic Validation of RNF 213 Coding Variants in Japanese Patients With Moyamoya Disease , 2015 .

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

[22]  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.

[23]  G. Abecasis,et al.  Rare-variant association analysis: study designs and statistical tests. , 2014, American journal of human genetics.

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

[25]  J. Pruneda,et al.  RING-type E3 ligases: master manipulators of E2 ubiquitin-conjugating enzymes and ubiquitination. , 2014, Biochimica et biophysica acta.

[26]  A. Koizumi,et al.  Genomewide association study identifies no major founder variant in Caucasian moyamoya disease , 2013, Journal of Genetics.

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

[28]  E. Seo Diagnosis and Treatment of Moyamoya Disease , 2013 .

[29]  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.

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

[31]  Iuliana Ionita-Laza,et al.  Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. , 2012, American journal of human genetics.

[32]  Adam Kiezun,et al.  Exome sequencing and the genetic basis of complex traits , 2012, Nature Genetics.

[33]  Y. Kuroiwa,et al.  Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease , 2012, Neurology.

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

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

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

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

[38]  R. Deshaies,et al.  RING domain E3 ubiquitin ligases. , 2009, Annual review of biochemistry.

[39]  S. Kuroda,et al.  Moyamoya disease: current concepts and future perspectives , 2008, The Lancet Neurology.

[40]  S. Leal,et al.  Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. , 2008, American journal of human genetics.

[41]  Narayanan Eswar,et al.  Protein structure modeling with MODELLER. , 2008, Methods in molecular biology.

[42]  K. Nozaki,et al.  Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting , 2006, Journal of Neurology, Neurosurgery & Psychiatry.

[43]  Conrad C. Huang,et al.  UCSF Chimera—A visualization system for exploratory research and analysis , 2004, J. Comput. Chem..

[44]  P. Freemont Ubiquitination: RING for destruction? , 2000, Current Biology.