Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.

Nobuhiko OkamotoYuki TsuchiyaIchiro KukiToshiyuki YamamotoHirotomo SaitsuDaiju KitagawaNaomichi Matsumoto

Published in: Molecular genetics & genomic medicine (2017)

CHAMP1 encodes a protein regulating kinetochore-microtubule attachment and chromosome segregation. These data strongly support that CHAMP1 mutations cause ID, and suggest that CHAMP1 is critical for progression of cytokinesis and maintenance of centrosome number.

Keyphrases

copy number
case report
electronic health record
big data
binding protein
protein protein
dna methylation
amino acid