(Q22010459)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

main subject

Ectodysplasin A receptor

1 reference

hypohidrotic ectodermal dysplasia

GOA release 2020-03-11

1 reference

5

P A Overbeek

P A

Overbeek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Monreal AW

1

A W

Monreal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Ferguson BM

2

B M

Ferguson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Headon DJ

3

D J

Headon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Street SL

4

S L

Street

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Zonana J

6

J

Zonana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

366-369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

Hypohidrotic ectodermal dysplasia

10 December 2019

cites work

1 reference

7 January 2021

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

1 reference

7 January 2021

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

1 reference

7 January 2021

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

1 reference

7 January 2021

Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.

1 reference

7 January 2021

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

1 reference

7 January 2021

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder

1 reference

7 January 2021

YAC rescue of downless locus mutations in mice

1 reference

7 January 2021

A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13

1 reference

7 January 2021

Involvement of a novel Tnf receptor homologue in hair follicle induction

1 reference

7 January 2021

Modularity in the TNF-receptor family

1 reference

7 January 2021

Characterization of the human HOX 7 cDNA and identification of polymorphic markers

1 reference

7 January 2021

A physical map of 30,000 human genes

1 reference

7 January 2021

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

1 reference

7 January 2021

A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

1 reference

7 January 2021

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

1 reference

7 January 2021

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis

1 reference

7 January 2021

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

1 reference

7 January 2021

Functional analysis of the polypyrimidine tract in pre-mRNA splicing

1 reference

7 January 2021

The TNF receptor superfamily of cellular and viral proteins: activation, costimulation, and death

1 reference

7 January 2021

Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE.

1 reference

7 January 2021

A radiation hybrid map of the human genome

1 reference

7 January 2021

Construction and characterization of a human bacterial artificial chromosome library

1 reference

7 January 2021

Vectorette PCR: a novel approach to genomic walking

1 reference

7 January 2021

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications

1 reference

7 January 2021

Identifiers

DOI

10.1038/11937

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10431241%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 December 2019

1052497894

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017