Researchers from the U.K. have analyzed whole-genome sequencing data from 7,276 cases and 236,741 controls in the UK Biobank to perform gene-level and a variant-level exome-wide association study analysis to identify variants related to retinal detachment.
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.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by biallelic genetic variants in the AIRE gene, encoding autoimmune regulator protein.
Italian researchers have presented a case study of pediatric advanced sleep-wake phase syndrome in a 4-year-old girl. Autosomal dominant forms of this syndrome due to loss-of-function mutations in the gene coding casein kinase I isoform delta (CSNK1D) have previously been described.
The homeostasis of cytosolic calcium (Ca2+) is crucial for several physiological functions such as cell motility and neuronal transmission, among others. In this process, the inositol 1,4,5-trisphosphate receptor type 3 (ITPR3) plays a key role in the release of intracellular Ca2+.
Adherens junction-associated protein 1 (AJAP1) is a transmembrane protein that inhibits tumor cell migration and is a susceptibility gene for migraine. Recent hypotheses have pointed toward the potential involvement of AJAP1 in epilepsy and other neurological disorders.
Epithelial ovarian cancer (EOC) is the most predominant histologic type of ovarian cancer, with about 55% of patients at an advanced stage when diagnosed; overall survival remains poor.
There is growing evidence of the role of soluble endoglin in the biology of platelets, including thrombosis. French researchers have investigated the role of genetic variants in the gene encoding endoglin, ENG, and the risk of venous thrombosis development.
