January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
47 citations
,
September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
A KRT32 gene variant causes loose anagen hair syndrome.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
7 citations
,
April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
1 citations
,
June 2025 in “Frontiers in Genetics” Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.
33 citations
,
September 2014 in “Reproductive Biology and Endocrinology” High afamin levels are linked to metabolic syndrome and may predict its development in women with insulin resistance.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
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.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
1 citations
,
October 2023 in “Animals” Certain DNA regions in alpacas are linked to fiber diameter.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
4 citations
,
February 2023 in “Research Reports in Clinical Cardiology” Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
11 citations
,
January 2016 in “Molecular and Cellular Neuroscience” Chronic ethanol increases certain brain receptor levels, influenced by steroids and protein changes.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
4 citations
,
September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
18 citations
,
February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.