(Q28241115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

De novo SOX11 mutations cause Coffin-Siris syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

SRY-box transcription factor 11a

19 March 2020

main subject

1 reference

GOA release 2020-03-11

Coffin-Siris syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Shubha R Phadke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Hirotomo Saitsu

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

18

Shiro Ikegawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

2

Eriko Koshimizu

1 reference

19 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

Noriko Miyake

19

object named as

Noriko Miyake

1 reference

19 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

Ikuyo Kou

5

object named as

Ikuyo Kou

1 reference

19 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

Satoko Miyatake

14

object named as

Satoko Miyatake

1 reference

19 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

author name string

Hirofumi Ohashi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Masaaki Shiina

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Toshifumi Suzuki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Nobuhiko Okamoto

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Shintaro Imamura

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Michiaki Yamashita

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Satoshi Watanabe

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Koh-ichiro Yoshiura

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Hirofumi Kodera

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Mitsuko Nakashima

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Kazuhiro Ogata

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Naomichi Matsumoto

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

language of work or name

English

0 references

publication date

2 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

4011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

From neural development to cognition: unexpected roles for chromatin

19 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Coffin-Siris syndrome is a SWI/SNF complex disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

The crystal structure of the Sox4 HMG domain-DNA complex suggests a mechanism for positional interdependence in DNA recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

The FoldX web server: an online force field

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Performance of protein stability predictors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

SOX11 contributes to the regulation of GDF5 in joint maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Expression patterns of zebrafish sox11A, sox11B and sox21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Expression of sox11 gene duplicates in zebrafish suggests the reciprocal loss of ancestral gene expression patterns in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

The transcription factor protein Sox11 enhances early osteoblast differentiation by facilitating proliferation and the survival of mesenchymal and osteoblast progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

p53 activation by knockdown technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

tp53 mutant zebrafish develop malignant peripheral nerve sheath tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

The sox family of transcription factors: versatile regulators of stem and progenitor cell fate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Mutations in SOX2 cause anophthalmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

The SWISS-MODEL Repository and associated resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

Embryonic senescence and laminopathies in a progeroid zebrafish model

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5011

21 January 2018

Identifiers

DOI

10.1038/NCOMMS5011

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886874%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 March 2020

ADS bibcode

2014NatCo...5.4011T

0 references

1048014942

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017