1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
12 citations
,
May 2003 in “Journal of dermatological science” Hsc70 protein may influence hair growth by responding to androgens.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
5 citations
,
March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” The HPV type 11 region activates hair-specific gene expression in mice.
3 citations
,
January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
28 citations
,
August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
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.
114 citations
,
May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
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
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
A new genetic mutation was found causing hair and eye issues in a boy.
January 2025 in “Pakistan Journal of Health Sciences” The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
37 citations
,
January 1986 in “Carcinogenesis” ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
9 citations
,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.