1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
23 citations
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September 2015 in “International Journal of Molecular Medicine” Activating ER-β, not ER-α, improves skin cell growth and wound healing.
47 citations
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January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
27 citations
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December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
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.
6 citations
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September 2015 in “Journal of Medicinal Chemistry” The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.