75 citations
,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
14 citations
,
November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
2 citations
,
January 2008 in “Oxford University Research Archive (ORA) (University of Oxford)”
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
42 citations
,
December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
October 2023 in “Journal of cystic fibrosis” 15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
April 2017 in “Journal of Investigative Dermatology” A virus protein can activate a pathway that may lead to abnormal hair follicle development.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
73 citations
,
June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
234 citations
,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
8 citations
,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
11 citations
,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.