717 citations
,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” Abatacept may help some people with alopecia areata regrow hair.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
24 citations
,
June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
86 citations
,
December 2002 in “Tissue Antigens” A specific gene change is linked to severe hair loss.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
December 2024 in “International Journal of Molecular Sciences” Targeting CXCL12 may help treat hair loss caused by androgens.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
15 citations
,
January 1991 in “Mammalian Genome”
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
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.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
December 2017 in “Journal of Cosmetic Dermatology” Researchers found certain genes are overactive and others are underactive in men with early balding, which could help create new treatments.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” AP-2α and AP-2β are crucial for healthy skin and hair.
3 citations
,
October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
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.