Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome (Q34248701)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

main subject

Floating-Harbor syndrome

1 reference

based on heuristic

inferred from title

author

Jeremy Schwartzentruber

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Chong Ae Kim

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jukka S Moilanen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Didier Lacombe

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

Caio Robledo D'Angioli Costa Quaio

20 January 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Israel Gomy

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Débora R Bertola

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Susan White

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

29

Kym M Boycott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

26

Jacek Majewski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

7

Judith Allanson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

25

FORGE Canada Consortium

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

5

Chandree Beaulieu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

27

Dennis E Bulman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

22

Albert E Chudley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Rebecca L Hood

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Matthew A Lines

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Sarah M Nikkel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Małgorzata J M Nowaczyk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Dagmar Wieczorek

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Margo L Whiteford

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Beate Albrecht

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Konrad Platzer

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

George McGillivray

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Ruobing Zou

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

D Ross McLeod

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Bernard N Chodirker

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Janet Marcadier

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Gabriele Gillessen-Kaesbach

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

English

0 references

publication date

19 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

308-313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters

20 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Human SRCAP and Drosophila melanogaster DOM are homologs that function in the notch signaling pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Regulation of cAMP-responsive element-binding protein-mediated transcription by the SNF2/SWI-related protein, SRCAP.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

The Floating-Harbor syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

6 July 2018

Floating-Harbor Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

The phenotype of Floating-Harbor syndrome in 10 patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

A variant example of familial Floating-Harbor syndrome?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276662

10.1016/J.AJHG.2011.12.001

28 October 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

release_tfoa4rmmonf4xfwuzmxzwyzeq4

20 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tfoa4rmmonf4xfwuzmxzwyzeq4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22265015%20AND%20SRC:MED&resulttype=core&format=json