Macromolecular assemblies that regulate chromatin structure using the energy of ATP
hydrolysis have critical roles in development, cancer, and stem cell biology. The ATPases of …

CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that
plays a role in transcription regulation by chromatin remodeling. Loss‐of‐function mutations …

CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation
of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities …

Heart malformations are common congenital defects in humans. Many congenital heart
defects involve anomalies in cardiac septation or valve development, and understanding the …

CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders
sharing overlap** features of impaired olfaction and hypogonadism. KS is a genetically …

The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts
at other stages of development, as illustrated by the multiple organs affected in the …

CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of
cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The …

The heart is the first organ to be functional in the fetus. Heart formation is a complex
morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital …

CHD7 is one of nine members of the chromodomain helicase DNA–binding domain family of
ATP–dependent chromatin remodeling enzymes found in mammalian cells. De novo …

CHD7 is a member of the chromodomain helicase DNA binding domain family of ATP-
dependent chromatin remodeling enzymes. De novo mutation of the CHD7 gene is a major …