(Q42428363)

28649782

31 October 2017

title

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability (English)

1 reference

31 October 2017

0 references

1 reference

1

1 reference

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1 June 2020

Servi Jc Stevens

7

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1 June 2020

Alexander P Stegmann

8

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1 June 2020

Philippe M. Campeau

23

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1 June 2020

19

Christine Eng

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1 June 2020

18

Richard A Gibbs

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1 June 2020

author name string

Mahim Jain

2

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1 June 2020

Lindsay C Burrage

3

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1 June 2020

I-Wen Song

4

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1 June 2020

Brett H Graham

5

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1 June 2020

Chester W Brown

6

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1 June 2020

Andrew T Gunter

9

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1 June 2020

Julie D Kaplan

10

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1 June 2020

Ralitza H Gavrilova

11

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1 June 2020

Marwan Shinawi

12

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1 June 2020

Jill A Rosenfeld

13

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1 June 2020

Yangjin Bae

14

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1 June 2020

Alyssa A Tran

15

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1 June 2020

Yuqing Chen

16

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1 June 2020

James T Lu

17

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1 June 2020

Yaping Yang

20

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1 June 2020

Justine Rousseau

21

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1 June 2020

Bert B A de Vries

22

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1 June 2020

Brendan Lee

24

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1 June 2020

publication date

25 June 2017

1 reference

31 October 2017

1 reference

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1 June 2020

volume

38

1 reference

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1 June 2020

issue

10

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1 June 2020

page(s)

1365-1371

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describes a project that uses

1 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5599325/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

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Actl6a protects embryonic stem cells from differentiating into primitive endoderm.

30 September 2018

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

30 September 2018

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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

30 September 2018

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

30 September 2018

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De novo SOX11 mutations cause Coffin-Siris syndrome

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Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways

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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

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Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

30 September 2018

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ACTL6a enforces the epidermal progenitor state by suppressing SWI/SNF-dependent induction of KLF4.

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30 September 2018

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In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

30 September 2018

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

30 September 2018

1 reference

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

30 September 2018

1 reference

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

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30 September 2018

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30 September 2018

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30 September 2018

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Nuclear actin and actin-related proteins in chromatin remodeling.

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

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30 September 2018

1 reference

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An unusual syndrome with mental retardation and sparse hair

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

Systematic mutational analysis of the yeast ACT1 gene

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599325

An unusual syndrome with mental retradation and sparse hair

30 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23282

Heterocomplex formation by Arp4 and β-actin is involved in the integrity of the Brg1 chromatin remodeling complex

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28649782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is this the Coffin-Siris syndrome or the BOD syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28649782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.23282

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28649782%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28649782%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

28649782

1 reference