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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
(2022-08-27)
Voltage-gated calcium (CaV) channels form three subfamilies (CaV1-3). The CaV1 and CaV2 channels are heteromeric, consisting of an α1 pore-forming subunit, associated with auxiliary CaVβ and α2δ subunits. The α2δ subunits ...
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
(Springer Nature, 2024-03-01)
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that ...
Transcriptional profiling of zebrafish identifies host factors controlling susceptibility to Shigella flexneri.
(Disease Models & Mechanisms, 2024-01-26)
Shigella flexneri is a human-adapted pathovar of Escherichia coli that can invade the intestinal epithelium, causing inflammation and bacillary dysentery. Although an important human pathogen, the host response to S. ...