8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
12 citations
,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
29 citations
,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
11 citations
,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
December 2025 in “ILDS-DEV”
Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.
52 citations
,
July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
144 citations
,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
January 2024 in “Wiadomości Lekarskie” Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
December 2015 in “PLOS Genetics” 21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
Mutations in specific genes cause different types of ectodermal dysplasias.
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
133 citations
,
January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
11 citations
,
November 2014 in “Behavior Genetics” 33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
2 citations
,
September 2024 in “PLoS ONE” Bendamustine combined with tucidinostat may effectively treat adult T-cell leukemia.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
May 2025 in “Anadolu Kliniği Tıp Bilimleri Dergisi” Gene variations may increase oxidative stress in male pattern baldness.