2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
46 citations
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June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
5 citations
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January 2015 in “Molecular Genetics and Metabolism”
9 citations
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March 2020 in “Gene” Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
12 citations
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January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
1 citations
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June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
14 citations
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February 2009 in “PLoS ONE” Keratinocytes help manage skin nitrogen metabolism, varying by age and skin area.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
13 citations
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January 1985 in “International Journal of Dermatology” The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
6 citations
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March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
54 citations
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November 1986 in “Journal of the American Academy of Dermatology” Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.
July 2025 in “Zahedan Journal of Research in Medical Sciences” CAG repeat length in the AR gene is not linked to PCOS risk in Iranian women.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
1 citations
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October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
Certain genetic variations are linked to hair loss in Mexican men.
April 2020 in “International Journal of Cosmetic Science” The study found that minor protein differences between curved and straight Japanese hair are unlikely to significantly affect hair structure.
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.