Khanh Lai

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat, Mark R. Battig et autres

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), …

us, gb, dk, nl, es, cz, ca, it, fr, de, jp (code pays fourni par la source)

GENETICS

A. Kottgen, F. Sallustio, S. N. Cox, G. Serino et autres

Introduction and Aims: Immunoglobulin A Nephropathy (IgAN) is the most common form of primary glomerulonephritis worldwide characterized by aberrant O-glycosylation in the hinge region of IgA1 (Gd-IgA1). A kidney biopsy for the diagnosis is required. Development of non-invasive tests for diagnosing the …