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May 2000 in “Endocrinology” A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists created a detailed map of gene activity in different parts of human hair follicles.
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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.
1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
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January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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October 1996 in “Journal of Investigative Dermatology”
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October 2018 in “Bioscience reports” Annexin A2 isoform 2 helps dermal papillae cells grow, affecting hair growth.
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May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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October 2022 in “International Journal of Molecular Sciences” Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
April 2006 in “The Journal of Urology” Genetic variations may affect how well finasteride works for BPH patients.
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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.
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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.
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
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January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
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July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.