1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
25 citations
,
November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
September 2025 in “Animals” The KRTAP22-2 gene in sheep does not significantly affect wool traits.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
58 citations
,
July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
1 citations
,
April 2025 in “Animals” The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
18 citations
,
September 2018 in “The Journal of Agricultural Science” Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
52 citations
,
October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
6 citations
,
January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
7 citations
,
May 2025 in “Journal of Biomedical Science” Keratin 6A increases skin inflammation, suggesting it could be a target for treating certain skin diseases.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.