June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
March 2010 in “European Journal of Cancer Supplements”
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
8 citations
,
October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
4 citations
,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
10 citations
,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
1 citations
,
September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
4 citations
,
February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
147 citations
,
October 2021 in “Cancer Communications” RC48 shows promise for treating certain advanced cancers, but more research is needed.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
52 citations
,
June 1991 in “Journal of Virology” The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.