139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.
15 citations
,
August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
88 citations
,
August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
June 2026 in “Archives of Dermatological Research” This study observed that PCAT1 and HOTAIR gene expressions were significantly lower in individuals with androgenic alopecia compared to healthy controls, suggesting their potential involvement in the condition's pathogenesis.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
11 citations
,
January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
2 citations
,
June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
7 citations
,
October 2010 in “Medical Hypotheses” Alopecia areata may involve stress-related changes affecting hormone receptors, leading to reduced cortisol production.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
16 citations
,
April 2024 in “Proceedings of the National Academy of Sciences” This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
14 citations
,
June 2011 in “Journal of Dermatological Science” TSH influences keratin expression in human hair follicles.
288 citations
,
January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
20 citations
,
April 2014 in “Autoimmunity” In this study, TLR1 gene polymorphism rs4833095 was significantly associated with increased susceptibility to alopecia areata in the Korean population.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
July 2016 in “Cancer research” This study found that mutant cells in hair follicles can be tolerated or eliminated by surrounding normal tissue, suggesting the potential for wild-type cells to counteract oncogenic mutations.
November 2024 in “Journal of Investigative Dermatology” This study found that recombinant human ADM2 treatment inhibited cell proliferation and induced apoptosis in human hair follicles, contrasting with the previously documented pro-proliferative and anti-apoptotic functions of ADM2.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
2 citations
,
February 2014 in “Animal Biotechnology” This study reported that the PTGER2 gene is strongly expressed in cashmere goat skin and its expression tends to decrease from the anagen to telogen stages of the hair follicle cycle.
2 citations
,
August 2023 in “Experimental Dermatology” In this study, researchers discovered that HEY2+ dermal papilla cells exhibit stemness and contribute to dermal regeneration during wound healing, as shown by the expression of a reporter gene in regenerated dermal cells of tamoxifen-induced transgenic mice.
3 citations
,
January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
February 2025 in “Biomolecules” This study found that activation of RORA significantly promotes the level of autophagy in rat hair follicle stem cells, suggesting a potential target for research on hair follicle development and treatments for conditions like alopecia.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
3 citations
,
January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.