Autism spectrum disorders (ASD) are ~4-times more common in males than females, and CHD8 (a chromatin remodeler)-related ASD shows a strong male bias (~5:1), although the underlying mechanism remains

NIAID Data Ecosystem40

Single cell transcriptomic analysis of mutant MECP2 human neural cells over a time-course of in vitro differentiation

单细胞转录组学

发育疾病机制

Single cell transcriptomic analysis of mutant MECP2 human neural cells over a time-course of in vitro differentiation

ChEBI2024-11-17 更新20

Table_2_Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta.docx

斑马鱼遗传

发育疾病机制

COMP (Cartilage Oligomeric Matrix Protein), also named thrombospondin-5, is a member of the thrombospondin family of extracellular matrix proteins. It is of clinical relevance, as in humans mutations

NIAID Data Ecosystem70

Effect of DRP1 mutations on synaptic development during iPSC-derived cortical neuron maturation

发育疾病机制

iPSC神经元模型

With the advent of exome sequencing, a growing number of children are being identified with de novo loss of function mutations in the large GTPase essential for mitochondrial fission - Dynamin Related

NIAID Data Ecosystem20