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

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

(2016) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2016) Sirui Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy

(2016) Hiroyuki Fukushima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca 2+ /NFAT Signaling

(2016) Beate Scholz et al.   DEVELOPMENTAL CELL

Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1

(2016) Ji Hoon Phi et al.   Journal of Neurosurgery-Pediatrics

Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

(2016) Takaaki Morimoto et al.   Journal of Stroke & Cerebrovascular Diseases

Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

(2016) Takaaki Morimoto et al.   Journal of Stroke & Cerebrovascular Diseases

RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

(2016) Hatasu Kobayashi et al.   PLoS One

Atypical presentation of moyamoya disease in an infant with a de novoRNF213variant

(2015) Tamar Harel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies

(2015) Kenneth J. McCallum et al.   BIOMETRICS

Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series

(2015) Bruno Law-ye et al.   EUROPEAN RADIOLOGY

Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia

(2015) Soto Romuald Kiando et al.   JOURNAL OF HYPERTENSION

Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan

(2015) Ming-Jen Lee et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing

(2015) Lorelei D. Shoemaker et al.   G3-Genes Genomes Genetics

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease

(2015) Y. Moteki et al.   Journal of the American Heart Association

A new horizon of moyamoya disease and associated health risks explored through RNF213

(2015) Akio Koizumi et al.   Environmental Health and Preventive Medicine

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

(2014) Katherine R. Smith et al.   International Journal of Stroke

Allosteric activation of the RNF146 ubiquitin ligase by a poly(ADP-ribosyl)ation signal

(2014) Paul A. DaRosa et al.   NATURE

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

(2014) Alana C. Cecchi et al.   STROKE

Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state

(2014) Daisuke Morito et al.   Scientific Reports

RING-type E3 ligases: Master manipulators of E2 ubiquitin-conjugating enzymes and ubiquitination

(2013) Meredith B. Metzger et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Genomewide association study identifies no major founder variant in Caucasian moyamoya disease

(2013) WANYANG LIU et al.   JOURNAL OF GENETICS

Guidelines for Diagnosis and Treatment of Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis)

(2013) et al.   NEUROLOGIA MEDICO-CHIRURGICA

Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion

(2013) Satoru Miyawaki et al.   STROKE

Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets

(2012) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Homozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

(2012) S. Miyatake et al.   NEUROLOGY

Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population

(2012) Zhiyuan Wu et al.   PLoS One

P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure

(2012) Akio Koizumi et al.   Environmental Health and Preventive Medicine

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

(2010) Fumiaki Kamada et al.   JOURNAL OF HUMAN GENETICS

RING Domain E3 Ubiquitin Ligases

(2009) Raymond J. Deshaies et al.   Annual Review of Biochemistry

Moyamoya Disease and Moyamoya Syndrome

(2009) R. Michael Scott et al.   NEW ENGLAND JOURNAL OF MEDICINE

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Moyamoya disease: current concepts and future perspectives

(2008) Satoshi Kuroda et al.   LANCET NEUROLOGY