98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
July 2024 in “Egyptian Journal of Medical Human Genetics” These gene variations are not linked to alopecia areata in Egyptians.
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.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
August 2016 in “Journal of Dermatology” A chemical called 5-Bromo-2′-deoxyuridine caused rapid hair loss in mice by killing certain skin cells through a specific cell death pathway.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
6 citations
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March 2020 in “Anais Brasileiros de Dermatologia” CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
11 citations
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March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
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December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
19 citations
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December 2015 in “Journal of Investigative Dermatology” The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
July 2025 in “Journal of Investigative Dermatology” 4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
10 citations
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May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
August 2022 in “International Journal of Molecular Sciences” DNA methylation controls lncRNA2919, which negatively affects hair growth.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.