Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes,
including inherited genetic defects, with significant proteinuria being the predominant clinical …

FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of
kidney failure. Identification of genes causing FSGS has improved our understanding of …

De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of unexplained
intellectual disability (ID) cases in females and are associated with autism, brain …

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease.
Recent advances in molecular genetics show that defects in the podocyte play a major …

The emerging role of the transient receptor potential cation channel isotype 6 (TRPC6) as a
central contributor to various pathological processes affecting podocytes has generated …

Clinical and genetic features of five unrelated patients with de novo pathogenic variants in
the synaptic vesicle‐associated membrane protein 2 (VAMP2) reveal common features of …

Agenesis of the corpus callosum (ACC) is one of the of the most common defects of the
central nervous system with an incidence of 1/20000-30000 live births, putting it behind only …

… Andrew F Malone1,2, Paul J Phelan1,2, Gentzon Hall1,2 , Umran Cetincelik3, Alison
Homstad1,4, Andrea Alonso1,4, Ruiji Jiang1,4, Thomas Lindsey1, Guanghong Wu1 …

Double perovskite has shown great potential to solve the toxicity and instability problems of
lead halide perovskite in practical applications. However, most lead-free double perovskite …

Lead-free double-perovskite nanocrystals (NCs) have emerged as a promising material to
address the issues of instability and toxicity associated with lead-based materials. Metal ion …