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Glossary Desmoglein 3

protein crucial for cell adhesion in skin and mucous membranes

Desmoglein 3 (Dsg3) is a protein that plays a crucial role in cell adhesion, specifically in the skin and mucous membranes. It is a component of desmosomes, which are structures that help cells stick together, providing strength and integrity to tissues. Defects or autoimmune attacks against Dsg3 can lead to conditions like pemphigus vulgaris, a disease characterized by blistering and erosion of the skin and mucous membranes.

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research Expression of Desmoglein 1 Compensates for Genetic Loss of Desmoglein 3 in Keratinocyte Adhesion

72 citations , July 2002 in “Journal of Investigative Dermatology”

This study provides genetic evidence that desmoglein-1 can compensate for the loss of desmoglein-3 in hair adhesion, supporting the desmoglein compensation hypothesis.

research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

33 citations , October 2005 in “Journal of Investigative Dermatology”

A specific gene mutation causes sparse, brittle hair in a family.

research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family

25 citations , March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family

August 2023 in “Acta Scientific Paediatrics”

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.