WDR45 is located on the X chromosome. Its pathogenic variants are associated with various neurodegenerative disorders that are predominantly reported in females and present a wide range of clinical phenotypes, from early-onset developmental delay to neurodegeneration and multiple epileptic syndromes.
CK1α serves as an upstream regulator of the p53 pathway, and its degradation may facilitate cell death by preventing MDM2 and/or MDMX mediated inactivation of p53.
Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.
Cstone Pharmaceuticals Co. Ltd. presented preclinical data of CS-2009, a trispecific antibody targeting PD-1, CTLA-4 and VEGF-A, for cancer immunotherapy.
At the annual meeting of the American Society for Human Genetics, scientists presented three new cases of Kabuki syndrome presented with developmental delay, autism and myopia as the common traits.
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