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Article

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

Human genetics - 1 Oct 2016

Shaheen Ranad, Hashem Amal, Abdel-Salam Ghada M H, Al-Fadhli Fatima, Ewida Nour, Alkuraya Fowzan S

Abstract excerpt

Primary microcephaly is a clinical phenotype in which the head circumference is significantly reduced at birth due to abnormal brain development, primarily at the cortical level. Despite the marked genetic heterogeneity, most primary microcephaly-linked genes converge on mitosis regulation. Two consanguineous families segregating the phenotype of severe primary microcephaly, spasticity and failure to thrive had...

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Identifiers

PMID: 27503289
DOI: 10.1007/s00439-016-1722-2

Genes

CIT

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Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.PMID 27503289Read ↗

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.Semantic proximity Read ↗

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.Semantic proximity Read ↗

Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity.Semantic proximity Read ↗

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.Semantic proximity Read ↗

Of rings and spines: The multiple facets of Citron proteins in neural development.Semantic proximity Read ↗

Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive MicrocephalySemantic proximity Read ↗

An entosis-like process induces mitotic disruption in Pals1 microcephaly pathogenesisSemantic proximity Read ↗

Biallelic variants in KIF14 cause intellectual disability with microcephaly.Semantic proximity Read ↗

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.Semantic proximity Read ↗

Oligodendroglial deletion of the microcephaly gene Cit-k disrupts cortical connectivity and cognitive functionSemantic proximity Read ↗

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephalySemantic proximity Read ↗

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