1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
52 citations
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October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
1 citations
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July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
September 2023 in “Frontiers in cell and developmental biology” Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
30 citations
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April 2010 in “Cell Cycle” The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
March 2024 in “Agriculture” CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
86 citations
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October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
6 citations
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July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
September 2022 in “International Journal of Health Sciences (IJHS)” Low zinc levels may contribute to hair loss due to increased oxidative DNA damage.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
11 citations
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December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
January 2012 in “Elsevier eBooks” New treatments for skin and hair repair show promise, but further improvements are needed.
1 citations
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July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
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.
4 citations
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January 2025 in “Frontiers in Pharmacology” Multiomics helps understand and improve skin healing and repair.
33 citations
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January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
20 citations
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January 2017 in “Scientific reports” Whale genes show changes that help them live in water, like less hair and better flippers.
October 2025 in “Frontiers in Molecular Biosciences” Bruce Ames's work has greatly influenced research on genetics, aging, and health, inspiring ongoing studies on mitochondria and longevity.
51 citations
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September 2008 in “Journal of Investigative Dermatology” Vitamin D receptor may help protect against UV-induced skin cancer.