March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” Deleting vitamin D and calcium receptors in skin cells increases skin cancer risk by reducing DNA repair and stress response.
12 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
December 2021 in “Folia veterinaria” Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
37 citations
,
September 2005 in “Australasian Journal of Dermatology” A man with scalp and neck skin issues improved after a year of oral isotretinoin.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
9 citations
,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
12 citations
,
September 2020 in “JAMA Dermatology” PRP patients show varied symptoms and need more research to understand related conditions.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
4 citations
,
July 2014 in “International Journal of Dermatology” Twins had rare skin cysts likely due to genetics.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
51 citations
,
March 1990 in “Journal of Investigative Dermatology” 5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
Diseased horse foot skin shows increased keratin expression, similar to wound healing in mammals.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
January 2023 in “Springer eBooks” Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.