3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
50 citations
,
February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
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.
35 citations
,
April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
77 citations
,
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.
September 2023 in “World Rabbit Science” The FRZB gene slows hair growth in rabbits.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.