245 citations
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January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
98 citations
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December 1991 in “Annals of the New York Academy of Sciences” Keratin gene regulation is similar across mammals, affecting hair follicle differentiation.
January 2019 in “Publisher” Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
1 citations
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April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
6 citations
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October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.
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 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
166 citations
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February 2005 in “Behavioural brain research” Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
27 citations
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April 2008 in “Journal of Biological Chemistry” HMG-CoA reductase is crucial for skin wound healing by regulating keratinocyte growth and blood vessel formation.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
47 citations
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January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
May 2011 in “Journal of Clinical Neuroscience” The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
140 citations
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October 2008 in “Nature Genetics”
20 citations
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April 2016 in “Journal of Cosmetic Dermatology” Methyl vanillate spray increases hair count and hair mass in women with hair loss.
1 citations
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June 2018 in “World rabbit science” Different miRNAs in Rex rabbit skin affect cell processes and hair growth.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
April 2017 in “Journal of Investigative Dermatology” Dermal lymphatic vessels help hair growth by affecting hair cycle phases.
80 citations
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June 1997 in “The American Journal of Human Genetics”
TBX3 gene affects horse coat color, with higher expression in darker areas.
138 citations
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June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
137 citations
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April 2001 in “Journal of Clinical Investigation” Alopecia in these mice is caused by defective hair cycle communication due to missing vitamin D receptor function, not vitamin D levels.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
2 citations
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December 2022 in “Pharmaceutics” The enzyme pyruvate kinase M2 helps hair regrowth and could be a potential treatment for hair loss.