37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
13 citations
,
September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
8 citations
,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
113 citations
,
May 2002 in “PubMed” Overexpressing COX-2 in mice skin reduces skin tumor development.
January 1999 in “Journal of Investigative Dermatology” 32 citations
,
August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
26 citations
,
June 2024 in “Frontiers in Immunology” SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
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.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
19 citations
,
July 2022 in “PNAS Nexus” Similar treatments might work for different types of scarring hair loss.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
10 citations
,
January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
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.
98 citations
,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
1 citations
,
October 2014 in “Skin Pharmacology and Physiology” People with alopecia areata have higher levels of osteopontin, which might be important in the disease's development, but this doesn't relate to how severe the disease is.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
January 2005 in “mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)” Vitamin D and glucocorticoids affect bone growth, metabolism, and immune response.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
24 citations
,
March 2017 in “Archives of Gynecology and Obstetrics” The study found that women with hyperandrogenic PCOS have higher levels of AKT1 and AKT2 proteins in their cells, which may lead to cell dysfunction.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.