January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
15 citations
,
June 2011 in “British Journal of Dermatology” No link found between aromatase gene and female hair loss.
June 2025 in “Molecular Therapy — Nucleic Acids” A new treatment using a DNA aptamer can promote hair growth by targeting a specific receptor.
December 2023 in “International Journal of Molecular Sciences” Men with early balding showed higher levels of certain genes linked to hair loss and possibly prostate cancer.
26 citations
,
December 1999 in “Journal of Investigative Dermatology” Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
34 citations
,
May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
March 2018 in “Suez Canal University Medical Journal” NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
37 citations
,
February 2007 in “Experimental Dermatology” Increasing PDCD4 protein may help prevent or treat some skin cancers.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
42 citations
,
July 2013 in “Gene” IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
33 citations
,
June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
1 citations
,
June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
January 2005 in “Experimental Dermatology” Genetic factors play a major role in acne.
4 citations
,
February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
33 citations
,
October 1996 in “Journal of Investigative Dermatology”
6 citations
,
June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
1 citations
,
December 2023 in “Frontiers in Behavioral Neuroscience” UVB exposure increases appetite by activating p53 in skin cells.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.