A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
3 citations
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March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
2 citations
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July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
28 citations
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March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
7 citations
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July 2005 in “Journal of Dermatological Science” The gene URB is more active in human hair growth cells and responds to a hair-related hormone.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
17 citations
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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.