41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
32 citations
,
December 2014 in “Cold Spring Harbor Perspectives in Medicine” This article reviews the role of polarity proteins in epidermal morphogenesis and homeostasis and discusses how their alteration may contribute to skin disease, but reports no new experimental findings.
25 citations
,
October 1996 in “Dermatologic Clinics” This article discusses loose anagen syndrome, highlighting its characteristics, diagnostic methods, and spontaneous improvement over time, but provides no new clinical results.
19 citations
,
May 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the type 3 IP(3) receptor in their hair follicles experienced repetitive hair loss and regrowth, indicating disrupted hair-cycle regulation potentially linked to specific signaling pathways.
12 citations
,
May 2011 in “Dermatologic Clinics” This review discusses the association between scarring alopecia and inflammatory processes in common acquired bullous disorders of the scalp, and reports no new clinical findings.
11 citations
,
January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
7 citations
,
March 2020 in “PloS one” This study demonstrates that α-parvin is crucial for epidermal morphogenesis and hair follicle development by mediating integrin-dependent adhesion and actin organization in keratinocytes.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
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.
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.
35 citations
,
August 2021 in “npj Regenerative Medicine” This review examines how fibroblasts contribute to regeneration in various organs and explores the potential of reverting adult fibroblasts to a fetal-like state for regenerative therapies, but reports no new empirical findings.
35 citations
,
September 2009 in “Development” This study found that overexpression of the intercellular adhesion protein Necl2 in hair follicle stem cells was associated with reduced cell proliferation and delayed wound healing in both cultured cells and transgenic mice.
20 citations
,
October 2021 in “PLoS ONE” This study found significant differences in gene expression between newborn and adult skin, with infant skin notably increasing processes related to ECM organization, cell adhesion, and collagen fibril organization.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
4 citations
,
November 2014 The skin protects the body, regulates temperature, senses touch, and makes vitamin D.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
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.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
1 citations
,
November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Dsc3 function in the epidermis impaired cell adhesion, leading to blistering and hair loss, which suggests a potential cause of PV-like skin diseases according to this study.
182 citations
,
May 2003 in “Development” This study found that Myc activation in mouse epidermis impairs keratinocyte adhesion and motility by downregulating extracellular matrix and cytoskeleton proteins, affecting hair lineage differentiation.
96 citations
,
September 1996 in “PubMed” This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.
13 citations
,
August 1999 in “Journal of Investigative Dermatology” This study found that bikunin is expressed in human keratinocytes and may play a role in regulating keratinocyte function during mitosis or inflammation.
6 citations
,
January 2021 in “Journal of the mechanics and physics of solids/Journal of the Mechanics and Physics of Solids” This study's simulations suggest that biomechanical factors, like follicle geometry and tissue stiffness, are likely significant in hair fiber protrusion, providing a framework for future experimental validation.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.