2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
15 citations
,
November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
2 citations
,
August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
57 citations
,
November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
44 citations
,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
Controlling Tslp can improve health in AEC syndrome patients.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
December 2015 in “PLOS Genetics”
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
43 citations
,
April 1996 in “Journal of Investigative Dermatology”
February 2013 in “Journal of the American Academy of Dermatology” Certain gene variations might increase the risk of a hair loss condition in Koreans.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
7 citations
,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
4 citations
,
December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
1 citations
,
June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.