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Glossary Desmoglein

protein aiding cell adhesion in skin and tissues

Desmoglein is a type of protein found in the skin and other tissues that helps cells stick together, forming strong connections called desmosomes. These proteins are crucial for maintaining the structural integrity of tissues, and their dysfunction can lead to skin disorders and diseases such as pemphigus, where the skin becomes fragile and blisters easily.

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Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation

research Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation

108 citations , July 2002 in “Molecular and cellular biology”

This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.

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 Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation

35 citations , August 2009 in “Differentiation”

This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.

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 Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms

29 citations , October 2004 in “Differentiation”

Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.

research Transgenic rescue of desmoglein 3 null mice with desmoglein 1 to develop a syngeneic mouse model for pemphigus vulgaris

17 citations , April 2011 in “Journal of Dermatological Science”

This study reports that the transgenic expression of Dsg1 in mice rescued the severe B6-Dsg3−/− phenotype and created a syngeneic mouse model of pemphigus vulgaris, which may aid in understanding autoimmunity mechanisms.

research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

13 citations , August 2005 in “Journal of Investigative Dermatology Symposium Proceedings”

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

11 citations , December 2014 in “The American journal of pathology”

This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.

research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3

5 citations , October 2015 in “The American journal of pathology”

This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

research Desmogleins: Hair perspective

4 citations , January 2013 in “International Journal of Trichology”

This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.

research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium

2 citations , July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY”

This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.

RPGRIP1L Facilitates Desmosomal Adhesion Through Suppressing PKCβII-Mediated Desmoglein Endocytosis: Implication in Pemphigus

research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus

April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology”

The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.

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

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

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

50 citations , February 2004 in “Genomics”

This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity

28 citations , July 2008 in “Developmental Biology”

This study found that the loss of Smad4 in keratinocytes reduces Dsg4 expression via disrupted BMP signaling, contributing to hair follicle degeneration and alopecia.

research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat

28 citations , October 2004 in “Differentiation”

This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

26 citations , April 2011 in “British Journal of Dermatology”

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

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 Monovalent antibody-conjugated lipid-polymer nanohybrids for active targeting to desmoglein 3 of keratinocytes to attenuate psoriasiform inflammation

18 citations , January 2021 in “Theranostics”

This study found that actively targeted AN2728-loaded nanocarriers reduced inflammation and improved skin condition in a mouse model of psoriasiform inflammation compared to free drug and non-targeted nanoparticles.

research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature

15 citations , June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.

research A Novel In Vivo Active Pemphigus Model Targeting Desmoglein1 and Desmoglein3: A Tool Representing All Pemphigus Variants

2 citations , May 2023 in “Biology”

This study developed and characterized new mouse models of Pemphigus that mimic different forms of the disease, but treatment with Methyl-Prednisolone showed only partial effectiveness.

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.

research 320 Desmoglein 3-mediated mechanical transadhesion controls epithelial stem cell quiescence

October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that mechanical disruption of the desmosomal cadherin Dsg3 in hair follicle stem cells activates them from quiescence, highlighting its role as a key regulator of stem cell quiescence and epithelial niche integrity.

research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation

April 2018 in “Journal of Investigative Dermatology”

This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.

research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

372 citations , December 2004 in “Nature Genetics”