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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

pengarang

Amélie Pinard

1988 -

Ellen M Hostetler

Manoelle Kossorotoff

Dominique Hervé

Markus Kraemer

Deborah A Nickerson

1954 - 2021

diterbitkan dalam: Genetics in Medicine

tanggal publikasi: 2019-09-02

subyek utama: pleiotropy

Cites articles 20

Date

Judul

Pengarang

2018-02-06

The CCR4-NOT deadenylase complex controls Atg7-dependent cell death and heart function.

Josef M Penninger, Tomokazu Yamaguchi, Takashi Suzuki, Teruki Sato, Hiroyuki Watanabe, Shinji Nakaoka, Tohru Natsume, Masaaki Komatsu, Shigeomi Shimizu, Keiji Kuba
2018-01-08

miR-126-5p promotes retinal endothelial cell survival through SetD5 regulation in neurons

Fabrice Soncin, Virginie Mattot, José Carlos Rivera
2017-01-25

Prevalence and architecture of de novo mutations in developmental disorders

Deciphering Developmental Disorders Study
2017-09-07

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Robert Huether, Zoe Powis, Alessandro Serretti, Karen Gripp
2016-12-02

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Dong H Kim, Xuetong Shen, University of Washington Center for Mendelian Genomics, Deborah A Nickerson, Dorothy K Grange, Rolph Pfundt
2016-10-06

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Lina Basel-Vanagaite, Natalia Gomez-Ospina, Philippe M. Campeau, Koen Van Gassen, Maximilian Muenke
2016-11-01

A Functional Switch of NuRD Chromatin Remodeling Complex Subunits Regulates Mouse Cortical Development

Justyna Nitarska, Jacob G Smith, Michele M G Hillege, Alexi Nott, William D Barshop, Richard Mitter
2016-11-18

Setd5 is essential for mammalian development and the co-transcriptional regulation of histone acetylation

Mark Magnuson, Anna B. Osipovich
2014-02-27

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

Sophie Collardeau-Frachon, Gwénola Boulday, Anne Philippi, Dominique Hervé, Elisabeth Tournier-Lasserve, Sandrine Passemard, Hugues Chabriat, Emmanuel Houdart, Reda Belbouab, Michel Zerah, Stéphane Chabrier, Francoise Bergametti, Aurore Essongue, Eliane Berrou, Valérie Krivosic, C Sainte-Rose, Kareen Billiemaz, Marilyne Lebret, Sabine Roman, Audrey Delaforge, Stéphanie Guey, Xavier Dray, Peter Brouckaert
2012-08-01

Moyamoya vascular pattern in Alagille syndrome

Ruben Rocha, Miguel Leão
2011-05-19

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

Aniket V Gore, Steven Gazal, Dominique Hervé, Elisabeth Tournier-Lasserve, France Woimant
2010-11-04

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

Yu Abe, Naoto Ishii
2010-04-01

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype

Michael B Bober, Jeffrey A Feinstein
2010-10

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dorothy K Grange
2010-04-01

A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function

Andrew A Hicks, Josef M Penninger, Greg G Neely, Christian Berger
2009-03-01

Moyamoya disease and moyamoya syndrome
2008-05-01

Regulators of cellular levels of histone acetylation in Saccharomyces cerevisiae

Siavash K Kurdistani
2007-09

Chromatin remodeling proteins interact with pericentrin to regulate centrosome integrity
2002-05-01

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force

Jack Arbiser, David H. Gutmann
1993-12-01

Smooth muscle cell proliferation and localization of macrophages and T cells in the occlusive intracranial major arteries in moyamoya disease

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