28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
32 citations
,
July 2018 in “FEBS letters” A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
86 citations
,
May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
72 citations
,
October 2009 in “The FASEB journal” TRH stimulates human hair growth and extends the hair growth phase.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
April 2015 in “Andrology” HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
60 citations
,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
10 citations
,
February 2013 in “British Journal of Dermatology” Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
24 citations
,
January 2003 in “Journal of Investigative Dermatology” Blocking a specific receptor slows down hair loss in mice.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
February 1985 in “PubMed” 39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.