27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
December 2024 in “European journal of medical research” Hedgehog signaling can create new hair follicles but may also cause tumors.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
5 citations
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February 1998 in “Polymer” Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
June 2025 in “Albus Scientia” MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
13 citations
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November 1995 in “European Archives of Oto-Rhino-Laryngology” 5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
March 2024 in “Skin research and technology” High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
3 citations
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June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.
28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
January 2015 in “Elsevier eBooks” CA VI helps maintain pH balance and is important for various bodily functions.
28 citations
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November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
4 citations
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December 1962 in “European journal of endocrinology” Alloxan diabetes, methylthiouracil, cortisone, and adrenaline affect how white mice hair follicles use glucose and cystine and their cell division.
January 2021 in “Medical Research Archives” Genetically modified rats help reveal how vitamin D affects bone and skin health.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
22 citations
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
1 citations
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April 2022 in “The Journal of Family Practice” CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
14 citations
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
4 citations
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January 1992 in “The Tohoku Journal of Experimental Medicine” Zinc made mice's coarse hair turn into fine hair without affecting skin structure.
September 2018 in “Journal of the American Academy of Dermatology” Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
February 2020 in “Definitions” KRT72 gene helps form hair.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.