(Q28292498)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

Baraitser-Winter syndrome

3 March 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Andreas Rump

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

R Koenig

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

V M Der Kaloustian

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

F Halal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

K Sonntag

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

C Krause

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

K Hackmann

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

G Hahn

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

E Schrock

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

A Verloes

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

12 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

179-183

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

The actin gene family: function follows isoform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

β-Actin specifically controls cell growth, migration, and the G-actin pool

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

Gamma-actin is required for cytoskeletal maintenance but not development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

Arginylation of beta-actin regulates actin cytoskeleton and cell motility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

At least six different actins are expressed in a higher mammal: an analysis based on the amino acid sequence of the amino-terminal tryptic peptide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

Acrocallosal syndrome: report of a Brazilian girl

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895648

A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

2 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.130

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.130

Cerebro-fronto-facial syndrome: three types?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.130

Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.130

Cell biology. Actin discrimination

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23756437

12 December 2020

inferred from PubMed ID database lookup

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23756437

12 December 2020

inferred from PubMed ID database lookup

Cerebro-fronto-facial syndrome: report of a further case

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23756437

12 December 2020

inferred from PubMed ID database lookup

Full spectrum genetics

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.130

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2013.130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23756437%20AND%20SRC:MED&resulttype=core&format=json