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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
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January 2017 in “Dermatology online journal” Tofacitinib helped psoriasis but not alopecia universalis, needing more research.
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
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February 2017 in “Clinical rheumatology” Tofacitinib may help treat nail dystrophy, especially when other treatments fail.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
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October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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April 2023 in “Journal of Investigative Dermatology” Increased TEMRA cells can predict treatment outcomes in rapidly progressive alopecia areata.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
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January 2006 in “Zhonghua miniao waike zazhi” Finasteride can reliably cause hypospadias in rabbits.
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September 2022 in “World Rabbit Science” The WIF1 gene is crucial for hair growth in Angora rabbits.
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
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March 2007 in “Biochemical and Biophysical Research Communications” Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
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August 2017 in “Genome” Gene expression affects fur development in rex rabbits.
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March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
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September 2021 in “Experimental Brain Research” Rats have different touch receptors in their paws that help with movement and handling objects.
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January 2005 in “Nihon Ishinkin Gakkai zasshi” Nested PCR can reliably identify fungal infections when traditional methods fail.
November 2025 in “Journal of Investigative Dermatology” Radiation-induced hair loss may be caused by hair growth stopping and inflammation in blood vessels.