8 citations
,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
8 citations
,
December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
9 citations
,
February 2001 in “Journal of Dermatological Science” p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
1 citations
,
October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
5 citations
,
March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
48 citations
,
August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
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.
1 citations
,
January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
3 citations
,
February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
February 2020 in “Definitions” KRT72 gene helps form hair.
19 citations
,
December 1990 in “Journal of Histochemistry & Cytochemistry” Foreskin keratinocytes and SVK14 cells express certain cytochrome P450 enzymes, unlike hair follicle keratinocytes.
1 citations
,
September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
A new genetic mutation was found causing hair and eye issues in a boy.
October 2024 in “Frontiers in Pharmacology” Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
10 citations
,
January 2019 in “Advances in Clinical and Experimental Medicine” Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.