175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
4 citations
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November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
22 citations
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August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
Vitamin D receptor helps prevent skin tumors.
45 citations
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December 2004 in “Forensic Science International” Laser microdissection helps get DNA from single hair follicles for better forensic analysis.
6 citations
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January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
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.
July 2019 in “Journal of Investigative Dermatology” The research found that male pattern hair loss is mostly genetic and involves hair thinning due to hormonal effects and changes in gene expression.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
January 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
5 citations
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August 1983 in “PubMed” DNA virus-induced tumors have consistent isozyme profiles, unlike other tumor types.
Farudodstat can prevent hair follicle immune damage linked to alopecia areata.
28 citations
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July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
15 citations
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January 2008 in “Annales de Toxicologie Analytique” Hair test results can be misleading due to contamination, so they shouldn't be used alone to determine drug use.
May 2026 in “Journal of the Egyptian Womenʼs Dermatologic Society” Intralesional methotrexate effectively treats patchy alopecia areata by reducing inflammation.
5 citations
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August 2021 in “Frontiers in Cell and Developmental Biology” DHEA boosts bone cell growth and differentiation in elderly stem cells.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
February 2019 in “PubMed” Methotrexate treatment often causes hair loss.
9 citations
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February 2019 in “BMC cancer” M30 is a promising treatment for preventing hair loss during chemotherapy.
1 citations
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November 2022 in “Journal of Investigative Dermatology” ALRN-6924 may prevent hair loss caused by chemotherapy.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.