(Q61446963)

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Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16543896%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions (English)

1 reference

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18 January 2020

6

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18 January 2020

9

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18 January 2020

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Hisham Bazzi

2

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18 January 2020

Anna Vitebsky

3

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18 January 2020

Agnieszka Witkiewicz

4

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18 January 2020

Julie V Schaffer

1

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18 January 2020

Olympia I Kovich

5

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18 January 2020

Lawrence S Shapiro

7

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18 January 2020

Snehal P Amin

8

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18 January 2020

Angela M Christiano

10

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18 January 2020

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1 June 2006

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18 January 2020

Journal of Investigative Dermatology

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18 January 2020

126

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18 January 2020

6

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18 January 2020

1286-1291

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18 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.jid.5700237

0 references

Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

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C-cadherin ectodomain structure and implications for cell adhesion mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

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Molecular abnormalities of the desmosomal protein desmoplakin in human disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo mutations in monilethrix

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Human hair abnormalities resulting from inherited desmosome gene mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Cadherin-mediated cell-cell adhesion: sticking together as a family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for genetic heterogeneity in monilethrix

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Lanceolate hair-J (lahJ): a mouse model for human hair disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure-function analysis of cell adhesion by neural (N-) cadherin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic evidence for a novel human desmosomal cadherin, desmoglein 4

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

Protection against Pemphigus Foliaceus by Desmoglein 3 in Neonates

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700237

7 January 2021

based on heuristic

inferred from DOI database lookup

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