Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions (Q61446963)

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

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18 January 2020

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

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Europe PubMed Central

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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

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18 January 2020

Anna Vitebsky

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18 January 2020

Agnieszka Witkiewicz

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18 January 2020

Julie V Schaffer

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18 January 2020

Olympia I Kovich

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18 January 2020

Lawrence S Shapiro

7

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18 January 2020

Snehal P Amin

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18 January 2020

Angela M Christiano

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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

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

1 reference

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7 January 2021

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

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C-cadherin ectodomain structure and implications for cell adhesion mechanisms

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Molecular abnormalities of the desmosomal protein desmoplakin in human disease.

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7 January 2021

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De novo mutations in monilethrix

1 reference

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7 January 2021

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Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

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7 January 2021

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

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7 January 2021

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Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

1 reference

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7 January 2021

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

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7 January 2021

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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

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

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

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

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Human hair abnormalities resulting from inherited desmosome gene mutations.

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

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

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

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

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

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

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

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

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Evidence for genetic heterogeneity in monilethrix

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

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

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Genetic evidence for a novel human desmosomal cadherin, desmoglein 4

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Protection against Pemphigus Foliaceus by Desmoglein 3 in Neonates

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