(Q48741684)

15 February 2018

title

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. (English)

1 reference

15 February 2018

main subject

Double PHD fingers 2

1 reference

lysine-acetylated histone binding

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Eduardo Calpena

26

0 references

Christian T Thiel

Christian T Thiel

Andrew Oliver Mungo Wilkie

23

0 references

Andrew O M Wilkie

27

0 references

André Reis

André Reis

30

0 references

Georgia Vasileiou

Georgia Vasileiou

1

0 references

Arif B. Ekici

6

Arif B Ekici

1 reference

Deciphering Developmental Disorders Study

15 February 2018

22

Deciphering Developmental Disorders Study

1 reference

15 February 2018

18

Bernd Wollnik

1 reference

15 February 2018

author name string

Silvia Vergarajauregui

2

1 reference

15 February 2018

Sabine Endele

3

1 reference

15 February 2018

Bernt Popp

4

1 reference

15 February 2018

Christian Büttner

5

1 reference

15 February 2018

Marion Gerard

7

1 reference

15 February 2018

Nuria C Bramswig

8

1 reference

15 February 2018

Beate Albrecht

9

1 reference

15 February 2018

Jill Clayton-Smith

10

1 reference

15 February 2018

Jenny Morton

11

1 reference

15 February 2018

Susan Tomkins

12

1 reference

15 February 2018

Karen Low

13

1 reference

15 February 2018

Astrid Weber

14

1 reference

15 February 2018

Maren Wenzel

15

1 reference

15 February 2018

Janine Altmüller

16

1 reference

15 February 2018

Yun Li

17

1 reference

15 February 2018

George Hoganson

19

1 reference

15 February 2018

Maria-Renée Plona

20

1 reference

15 February 2018

Megan T Cho

21

1 reference

15 February 2018

Hermann-Josef Lüdecke

24

1 reference

15 February 2018

Tim M Strom

25

1 reference

15 February 2018

Dagmar Wieczorek

28

1 reference

15 February 2018

Felix B Engel

29

1 reference

15 February 2018

language of work or name

English

0 references

publication date

5 February 2018

1 reference

15 February 2018

American Journal of Human Genetics

published in

1 reference

15 February 2018

Histone-binding of DPF2 mediates its repressive role in myeloid differentiation.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Prevalence and architecture of de novo mutations in developmental disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Selective recognition of histone crotonylation by double PHD fingers of MOZ and DPF2.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

The rules and impact of nonsense-mediated mRNA decay in human cancers

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Analysis of protein-coding genetic variation in 60,706 humans

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

DPF2 regulates OCT4 protein level and nuclear distribution

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

msa: an R package for multiple sequence alignment.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Identification of elements in human long 3' UTRs that inhibit nonsense-mediated decay

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

The ARID1B phenotype: what we have learned so far.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Coffin-Siris syndrome is a SWI/SNF complex disorder

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Diverse functions of ATP-dependent chromatin remodeling complexes in development and cancer

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Crystal structure of the Cys2His2-type zinc finger domain of human DPF2

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

The PHD finger: a versatile epigenome reader

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mechanism and regulation of acetylated histone binding by the tandem PHD finger of DPF3b

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Requiem protein links RelB/p52 and the Brm-type SWI/SNF complex in a noncanonical NF-kappaB pathway

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

An essential switch in subunit composition of a chromatin remodeling complex during neural development

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

The PHD finger, a nuclear protein-interaction domain

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Protein aggregation and neurodegenerative disease

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

The d4 gene family in the human genome

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Requiem: a novel zinc finger gene essential for apoptosis in myeloid cells

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985265

10.1016/J.AJHG.2018.01.014

2 November 2018

Identifiers

DOI

1 reference

15 February 2018

PMC publication ID

5985265

0 references

1 reference

15 February 2018