81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.
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.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
44 citations
,
May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
75 citations
,
October 1999 in “Differentiation” Mouse keratin 6 isoforms have different expression patterns in various tissues.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
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.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
September 1997 in “Clinical and Experimental Dermatology”
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
38 citations
,
April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
18 citations
,
January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.