CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
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January 2008 in “Genes & Genomics” 5 citations
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February 2014 in “PloS one” Eyelid cells share signaling components but differ in pathway activity.
July 2024 in “Journal of Investigative Dermatology”
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
February 1999 in “The anatomical record” Two mouse mutants have defective hair cuticle cross-linking.
10 citations
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December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.