Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
Ribonucleotide excision repair is crucial to prevent skin cancer.
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January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
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May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Notch/RBP-J signaling is crucial for proper placement and timing of melanocyte development in hair follicles.
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.