The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
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Title
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-09-02
DOI
10.1038/s41436-019-0639-2
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Note: Only part of the references are listed.- Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
- (2018) Z. Powis et al. CLINICAL GENETICS
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- (2018) Tomokazu Yamaguchi et al. Science Signaling
- The CCR4-NOT deadenylase complex controls Atg7-dependent cell death and heart function
- (2018) Tomokazu Yamaguchi et al. Science Signaling
- De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
- (2016) Karin Weiss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Setd5is essential for mammalian development and the co-transcriptional regulation of histone acetylation
- (2016) Anna B. Osipovich et al. DEVELOPMENT
- A Functional Switch of NuRD Chromatin Remodeling Complex Subunits Regulates Mouse Cortical Development
- (2016) Justyna Nitarska et al. Cell Reports
- 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
- Moyamoya Vascular Pattern in Alagille Syndrome
- (2012) Ruben Rocha et al. PEDIATRIC NEUROLOGY
- Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya
- (2011) Snaigune Miskinyte et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype
- (2010) Michael B. Bober et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
- (2010) Dianna M. Milewicz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A Global In Vivo Drosophila RNAi Screen Identifies NOT3 as a Conserved Regulator of Heart Function
- (2010) G. Gregory Neely et al. CELL
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- (2010) Fumiaki Kamada et al. JOURNAL OF HUMAN GENETICS
- Moyamoya Disease and Moyamoya Syndrome
- (2009) R. Michael Scott et al. NEW ENGLAND JOURNAL OF MEDICINE
- Regulators of Cellular Levels of Histone Acetylation in Saccharomyces cerevisiae
- (2008) W. Peng et al. GENETICS
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