126 citations
,
October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
92 citations
,
February 2005 in “Journal of Investigative Dermatology” 6 citations
,
December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
1 citations
,
April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
April 2018 in “Journal of Investigative Dermatology” Blocking a specific immune cell signal can trigger hair growth.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
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.
March 2016 in “Experimental Dermatology” EGFR helps hair follicles transition properly by controlling Stathmin levels.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
1 citations
,
January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
8 citations
,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
April 2018 in “Journal of Investigative Dermatology” Removing STAT5 from 3D-cultured human skin cells reduces their ability to grow hair.
215 citations
,
September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
26 citations
,
December 1999 in “Journal of Investigative Dermatology” Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
26 citations
,
October 2016 in “Biomolecules & Therapeutics” 3-Deoxysappanchalcone helps human hair cells grow and stimulates hair growth in mice by affecting certain cell signaling pathways.