260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
7 citations
,
May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
1 citations
,
October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
4 citations
,
January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
44 citations
,
March 2012 in “Molecular Carcinogenesis” Keratin 15 cells from hair follicles help develop and maintain skin tumors in mice.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
2 citations
,
July 2017 in “Oncology Letters” Lacking cyclin D3 reduces skin cancer growth without affecting normal skin cell growth.
42 citations
,
February 2000 in “Journal of Investigative Dermatology” Type VII collagen absence helps skin development by allowing tissue remodeling.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.