47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
April 2018 in “Journal of Investigative Dermatology” The role of γδT-cells in causing alopecia areata remains unclear.
6 citations
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May 1986 in “Cancer Chemotherapy and Pharmacology” The drug TGU was ineffective against small cell lung cancer and caused significant bone marrow suppression.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
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.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
2 citations
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March 2025 in “Cancer Gene Therapy” Targeting Sirt1 can reduce androgen levels and slow glioblastoma growth.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
7 citations
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December 2008 in “Journal of Dermatological Science” Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
25 citations
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August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
37 citations
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November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
2 citations
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May 2019 in “International Journal of Molecular Sciences” Tranexamic acid turns white hair brown in certain mice by affecting specific proteins.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
6 citations
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October 2022 in “International Journal of Molecular Sciences” Male mice with FGF5 mutations grow longer hair than females.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
150 citations
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August 1992 in “Genes & Development” TNF alpha in skin cells causes weight loss, hair and fat issues, and skin inflammation in mice.
September 2025 in “Jurnal Penelitian Pendidikan IPA” Two genetic variations in Moa buffalo help them adapt to heat.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
32 citations
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July 2017 in “Oncotarget” Alternating treatment with two drugs could help cells in a rapid aging disease.
13 citations
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December 2020 in “PLoS ONE” Genetic factors influence growth and brain development in children.
3 citations
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November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.