(Q35161176)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

review article

1 reference

title

Towards a new classification of ectodermal dysplasias (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Lamartine J

series ordinal

1

1 reference

6 August 2017

1 July 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

Clinical and Experimental Dermatology

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

351-355

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

Ectodermal dysplasias: not only 'skin' deep

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Connexin mutations in hearing loss, dermatological and neurological disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

The p63 gene in EEC and other syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

GATA3 haplo-insufficiency causes human HDR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

A nonsense mutation in MSX1 causes Witkop syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01319.X

10.1046/J.1365-2230.2003.01319.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823289%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference