July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
December 2023 in “International Journal of Dermatology”
16 citations
,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
9 citations
,
June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
14 citations
,
January 1977 in “PubMed” The hair keratin variant is mostly found in Caucasians.
79 citations
,
February 2009 in “Human Genetics”
89 citations
,
August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
2 citations
,
June 2025 in “Journal of Investigative Dermatology” CD8+ T cells re-expressing CD45RA may predict treatment resistance in severe alopecia areata.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” Targeting specific T cells may help treat alopecia areata.
November 2025 in “Journal of Investigative Dermatology” Certain CD8+ T cells attack hair follicles in alopecia areata, suggesting they could be targeted for treatment.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
3 citations
,
April 2022 in “Biomolecules” Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.
8 citations
,
April 2023 in “Dermatology Practical & Conceptual” Certain blood markers, especially MLR, can help diagnose alopecia areata.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
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.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
4 citations
,
January 2023 in “Frontiers in Immunology” Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
2 citations
,
July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.