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Citron Kinase Mutations and Microcephaly by Ali Haider is a document available to read on EtoBox.

This document reports on three families affected by homozygous missense mutations in the CIT gene, which encodes the citron kinase protein. The mutations were found to impair citron kinase activity and cause abnormal cytokinesis in neural progenitor cells, leading to primary microcephaly. Induced pluripotent stem cells from affected individuals showed delayed mitosis, multipolar spindles, and increased apoptosis, which was rescued by genome editing. This links defects in cytokinesis to the pathology of prim

Author

Ali Haider

Language

EN