21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
5 citations
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January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
212 citations
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May 2012 in “Genes & Development” Planarian regeneration begins with a specific gene activation caused by injury, essential for healing and tissue regrowth.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
Two new mite species were found in a monkey's hair follicles, leading to a new genus and family proposal.
17 citations
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October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
1 citations
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October 2021 in “Journal of Investigative Dermatology” 5 citations
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July 2014 in “Molecular Biology Reports” May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
1 citations
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February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
3 citations
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February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.
9 citations
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June 2024 in “Genes” Key genes linked to wool quality in Spanish Merino sheep can improve fine wool production.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
23 citations
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August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
January 2024 in “Animals” Circular RNA ERCC6 helps activate stem cells important for cashmere goat hair growth by interacting with specific molecules in an m6A modification-dependent way.