27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
39 citations
,
January 2020 in “Scientific Reports” Four circRNAs were found to be significantly different in cashmere goat skin, affecting cashmere fineness.
October 2007 in “Revue du Rhumatisme”
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
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.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
2 citations
,
January 2010 57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
5 citations
,
June 2008 in “British Journal of Dermatology”
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
5 citations
,
March 2005 in “Journal of The American Academy of Dermatology”
48 citations
,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
80 citations
,
June 1997 in “The American Journal of Human Genetics”
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
76 citations
,
January 1998 in “Mammalian Genome” Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
October 2023 in “Lithuanian University of Health Sciences” The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
52 citations
,
May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
3 citations
,
May 2018 in “The Indian Journal of Animal Sciences” The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.