(Q30541078)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Novel alternative splicing of human faciogenital dysplasia 1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

alternative mRNA splicing, via spliceosome

31 December 2019

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Kumiko Yanagi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Yasutsugu Chinen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Kenji Naritomi

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

1 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

137-141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Phosphoinositide binding domains: embracing 3-phosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

The expression of truncated MK in human tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

High-affinity binding of a FYVE domain to phosphatidylinositol 3-phosphate requires intact phospholipid but not FYVE domain oligomerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Crystal structure of the Dbl and pleckstrin homology domains from the human Son of sevenless protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

Sonic hedgehog expression in Gli3 depressed mouse embryo, Pdn/Pdn

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2004.00026.X

10.1111/J.1741-4520.2004.00026.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15327482%20AND%20SRC:MED&resulttype=core&format=json

release_6jxdts2apbatfmphnsplgogngu

31 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6jxdts2apbatfmphnsplgogngu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference