(Q29147465)

English

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

scientific journal article

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scholarly article

1 reference

4 April 2017

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

1 reference

4 April 2017

Chromodomain helicase DNA binding protein 4

1 reference

GOA release 2020-03-11

histone deacetylase binding

1 reference

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Lina Basel-Vanagaite

25

object named as

Lina Basel-Vanagaite

0 references

Natalia Gomez-Ospina

object named as

Natalia Gomez-Ospina

13

0 references

Philippe M. Campeau

object named as

Philippe M. Campeau

27

0 references

Koen Van Gassen

object named as

Koen van Gassen

22

0 references

Maximilian Muenke

object named as

Maximilian Muenke

28

0 references

author name string

Karin Weiss

1

1 reference

4 April 2017

Paulien A. Terhal

2

1 reference

4 April 2017

Lior Cohen

3

1 reference

4 April 2017

Michael Bruccoleri

4

1 reference

4 April 2017

Melita Irving

5

1 reference

4 April 2017

Ariel F. Martinez

6

1 reference

4 April 2017

Jill A. Rosenfeld

7

1 reference

4 April 2017

Keren Machol

8

1 reference

4 April 2017

Yaping Yang

9

1 reference

4 April 2017

Pengfei Liu

10

1 reference

4 April 2017

Magdalena Walkiewicz

11

1 reference

4 April 2017

Joke Beuten

12

1 reference

4 April 2017

Katrina Haude

14

1 reference

4 April 2017

Chin-To Fong

15

1 reference

4 April 2017

Gregory M. Enns

16

1 reference

4 April 2017

Jonathan A. Bernstein

17

1 reference

4 April 2017

Judith Fan

18

1 reference

4 April 2017

Garrett Gotway

19

1 reference

4 April 2017

Mohammad Ghorbani

20

1 reference

4 April 2017

DDD Study

21

1 reference

4 April 2017

Glen R. Monroe

23

1 reference

4 April 2017

Gijs van Haaften

24

1 reference

4 April 2017

Xiang-Jiao Yang

26

1 reference

4 April 2017

language of work or name

0 references

publication date

6 October 2016

1 reference

4 April 2017

American Journal of Human Genetics

1 reference

4 April 2017

99

1 reference

4 April 2017

934–941

1 reference

4 April 2017

4

1 reference

4 April 2017

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

A framework for the interpretation of de novo mutation in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Disruptive CHD8 mutations define a subtype of autism early in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Promoter decommissioning by the NuRD chromatin remodeling complex triggers synaptic connectivity in the mammalian brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

The chromodomain helicase Chd4 is required for Polycomb-mediated inhibition of astroglial differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

The dermatomyositis-specific autoantigen Mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Characterization of the CHD family of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

6 April 2017

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

7 April 2017

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

7 April 2017

NURD, a novel complex with both ATP-dependent chromatin-remodeling and histone deacetylase activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

7 April 2017

A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

7 April 2017

The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in Cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

The Mendelian disorders of the epigenetic machinery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Phenotype and genotype in Nicolaides-Baraitser syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Inappropriate p53 activation during development induces features of CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

The nucleosome remodeling and deacetylase complex in development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Coffin-Siris syndrome is a SWI/SNF complex disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

The tumor suppressor kinase LKB1 activates the downstream kinases SIK2 and SIK3 to stimulate nuclear export of class IIa histone deacetylases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Transcriptional repressors: multifaceted regulators of gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Mi-2/NuRD is required in renal progenitor cells during embryonic kidney development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

The PHD and chromo domains regulate the ATPase activity of the human chromatin remodeler CHD4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Cancer biology and NuRD: a multifaceted chromatin remodelling complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

The NuRD chromatin-remodeling complex regulates signaling and repair of DNA damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

CHD proteins: a diverse family with strong ties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

CHD4/Mi-2beta activity is required for the positioning of the mesoderm/neuroectoderm boundary in Xenopus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

SUMO-1 modification of histone deacetylase 1 (HDAC1) modulates its biological activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Functional analysis of the DNA-stimulated ATPase domain of yeast SWI2/SNF2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

3 June 2018

Large-scale discovery of novel genetic causes of developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

26 November 2018

Concerted action of the PHD, chromo and motor domains regulates the human chromatin remodelling ATPase CHD4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

26 November 2018

The Deciphering Developmental Disorders (DDD) study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065651

26 November 2018

Identifiers

10.1016/J.AJHG.2016.08.001

1 reference

4 April 2017

0 references

1 reference

4 April 2017

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