Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

(2021) Philipp Rentzsch et al.   Genome Medicine

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

(2021) Alanna Strong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Figurate erythemas – update and diagnostic approach

(2021) Alexander Boehner et al.   JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

The Genetic Basis of Moyamoya Disease

(2021) R. Mertens et al.   Translational Stroke Research

RNF213 and GUCY1A3 in Moyamoya Disease: Key Regulators of Metabolism, Inflammation, and Vascular Stability

(2021) Yohei Mineharu et al.   Frontiers in Neurology

Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism

(2020) Juraj Ahel et al.   eLife

Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome

(2020) Pietro Fiaschi et al.   NEUROSURGICAL REVIEW

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

(2020) Vikas Pejaver et al.   Nature Communications

Neuroimaging Advances in Pediatric Stroke

(2019) Manus J. Donahue et al.   STROKE

Probing the Global Cellular Responses to Lipotoxicity Caused by Saturated Fatty Acids

(2019) Manuele Piccolis et al.   MOLECULAR CELL

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

(2019) Sirawit Ittisoponpisan et al.   JOURNAL OF MOLECULAR BIOLOGY

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

(2019) Lou Grangeon et al.   STROKE

Characteristics of Moyamoya Disease Based on National Registry Data in Japan

(2019) Yoko Sato et al.   STROKE

Moyamoya Disease and Spectrums of RNF213 Vasculopathy

(2019) Oh Young Bang et al.   Translational Stroke Research

Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease

(2018) Sung-A Chang et al.   CHEST

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

(2018) Claudia Santoro et al.   PLoS One

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

(2018) F. Musacchia et al.   BMC BIOINFORMATICS

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

(2017) Stéphanie Guey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

(2017) Maki Mukawa et al.   Journal of Stroke & Cerebrovascular Diseases

Clustal Omega for making accurate alignments of many protein sequences

(2017) Fabian Sievers et al.   PROTEIN SCIENCE

Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study

(2017) Lian Duan et al.   STROKE

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

(2017) Maki Mukawa et al.   Journal of Stroke & Cerebrovascular Diseases

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

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

Determinants of Basal Collaterals in Moyamoya Disease: Clinical and Genetic Factors

(2016) Jong-Won Chung et al.   EUROPEAN NEUROLOGY

PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia

(2016) Robert S. Banh et al.   NATURE CELL BIOLOGY

Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

(2016) Jong S. Kim   Journal of Stroke

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

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

(2015) Mi-Ae Jang et al.   BMC Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?

(2015) Oh Young Bang et al.   PLoS One

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

(2015) Kazuhiro Ohkubo et al.   Scientific Reports

Distribution of Moyamoya Disease Susceptibility Polymorphism p.R4810K in RNF213 in East and Southeast Asian Populations

(2015) Wanyang LIU et al.   NEUROLOGIA MEDICO-CHIRURGICA

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

(2014) Dominique Hervé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

(2014) Alana C. Cecchi et al.   STROKE

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

(2013) WANYANG LIU et al.   JOURNAL OF GENETICS

Extensive Arterial Tortuosity and Severe Aortic Dilation in a Newborn With an EFEMP2 Mutation

(2012) Maria Iascone et al.   CIRCULATION

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

(2012) Zhiyuan Wu et al.   PLoS One

The Pediatric Stroke Outcome Measure

(2012) Lisa Kitchen et al.   STROKE

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

(2011) Wanyang Liu et al.   PLoS One

Moyamoya Disease in China

(2011) Lian Duan et al.   STROKE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Moyamoya Disease and Moyamoya Syndrome

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