34 citations
,
August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
1 citations
,
November 2023 in “iScience” In this study, researchers found that disrupting desmoglein 3 signaling in a mouse model of pemphigus vulgaris activates normally quiescent hair follicle stem cells, compromising their multipotency but prompting a regenerative response that restores stem cell function and structures.
April 2023 in “Journal of Investigative Dermatology” In this study using a mouse model of Pemphigus vulgaris, researchers found that loss of desmoglein 3 adhesion in hair follicle stem cells triggers a regenerative program restoring stem cell function, requiring Hedgehog pathway suppression.
April 2018 in “Journal of Investigative Dermatology” This study found that desmosomal cadherin desmoglein 3 loses its rigidity upon Ca2+ removal, regardless of desmosome functional state, suggesting a central role for signaling in hyper-adhesion.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
February 2021 in “Journal of Investigative Dermatology” This study found that specific junctional proteins are significantly downregulated in balding regions of the scalp in men with androgenetic alopecia, suggesting disrupted cell communication may play a role in hair loss.
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.
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.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
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.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
55 citations
,
October 1992 in “Archives of Dermatology” In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
12 citations
,
January 2013 in “Acta Histochemica” Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
46 citations
,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is essential for the self-renewal, migration, and differentiation of epidermal stem cells during skin wound healing in mice.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
28 citations
,
March 2017 in “Endocrinology” In this study, the researchers found that vitamin D and calcium signaling in keratinocytes are essential for normal skin regeneration after wounding, with deficiencies significantly delaying wound closure and re-epithelialization in mice.
28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
15 citations
,
August 2022 in “Journal of endocrinological investigation” This review discusses how vitamin D and calcium signaling are essential for wound healing by activating epidermal and hair follicle stem cells, noting that deficiencies may lead to delayed or chronic wounds.
11 citations
,
January 2010 in “Dermatology Research and Practice” This review discusses the development of human skin with a focus on desmosomes, noting the challenges of translating animal model findings to humans due to species differences and limited human sample access.
2 citations
,
April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
87 citations
,
July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
27 citations
,
April 2011 in “Folia Histochemica et Cytobiologica” In this study using rats, finasteride-induced DHT deficiency led to morphological changes in seminiferous tubules, linked with altered junctional protein expression, potentially impairing fertility.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
2 citations
,
September 2004 in “Experimental Dermatology” This review discusses how dysfunction in keratinocyte adhesion affects skin integrity and conditions like alopecia and keratoderma, highlighting the roles of intercellular junctions, and reports no new clinical results.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.