13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
12 citations
,
July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
59 citations
,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
35 citations
,
August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
7 citations
,
July 2005 in “Journal of Dermatological Science” The gene URB is more active in human hair growth cells and responds to a hair-related hormone.
6 citations
,
July 2023 in “Nature cell biology” SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
31 citations
,
October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
49 citations
,
March 2004 in “Journal of Investigative Dermatology” The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
143 citations
,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
Defective nuclear transport may cause gene expression changes in Progeria.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
40 citations
,
December 2010 in “Human Genetics”
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
3 citations
,
December 2018 in “Meta Gene” Certain gene variations increase male hair loss risk, influenced by hormone levels.
2 citations
,
April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
5 citations
,
September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.