The small size of dendritic spines belies the elaborate role they play in excitatory synaptic
transmission and ultimately complex behaviors. The cytoskeletal architecture of the spine is …

CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward
males. Previous studies have identified mutations in more than 100 genes on the X …

Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes
blindness. FEVR has been linked to mutations in several genes associated with inactivation …

Background Orodental diseases include several clinically and genetically heterogeneous
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …

Background Genetic factors play a major role in the risk for neurodevelopmental disorders
such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying …

Diverse signaling cues and attendant proteins work together during organogenesis,
including craniofacial development. Lip and palate formation starts as early as the fourth …

Recently, de novo heterozygous loss-of-function mutations in beta-catenin (CTNNB1) were
described for the first time in four individuals with intellectual disability (ID), microcephaly …