ArticleHuman genetics2016
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 35 citations in OpenAlex.
- Citron Kinase, a mitotic kinase with increasing significance in cancer.Cell cycle (Georgetown, Tex.) · 2026Review
- Citron kinase activity controls alternative splicing events that drive prostate cancer growth.Science advances · 2026Article
- Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenicMolecular genetics and metabolism reports · 2026Article
- Regulation of Citron kinase by CDK1 and Aurora B regulates midbody formation and stability.Journal of cell science · 2026Article
- Genetic variants underlying congenital Zika syndrome and severe microcephaly: a systematic review and meta-analysis.Virusdisease · 2025Article
- CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6.Cell death & disease · 2025Article
- Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity.The Journal of clinical investigation · 2024Article
- Germ fate determinants protect germ precursor cell division by reducing septin and anillin levels at the cell division plane.Molecular biology of the cell · 2024Article
- Cytokinetic Abscission Regulation in Neural Stem Cells and Tissue Development.Current stem cell reports · 2021Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Inhibiting microcephaly genes as alternative to microtubule targeting agents to treat brain tumors.Cell death & disease · 2021Review
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Of rings and spines: The multiple facets of Citron proteins in neural development.Small GTPases · 2020Review
- Dissecting the Genetic and Etiological Causes of Primary Microcephaly.Frontiers in neurology · 2020Review
- Citron Rho-Interacting Serine/Threonine Kinase Promotes HIF1a-CypA Signaling and Growth of Human Pancreatic Adenocarcinoma.BioMed research international · 2020Article
- Overexpression of Citron Rho-Interacting Serine/Threonine Kinase Associated with Poor Outcome in Bladder Cancer.Journal of Cancer · 2020Article
- Human Brain Organoids to Decode Mechanisms of Microcephaly.Frontiers in cellular neuroscience · 2020Review
- Review
- Precision Revisited: Targeting Microcephaly Kinases in Brain Tumors.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 overlapping autozygomes in which exome sequencing identified homozygous splicing variants in CIT that segregate with the phenotype within each family. CIT encodes citron, an effector of the Rho signaling that is required for cytokinesis specifically in proliferating neuroprogenitors, as well as for postnatal brain development. In agreement with the critical role assigned to the kinase domain in effecting these biological roles, we show that both splicing variants predict variable disruption of this domain. The striking phenotypic overlap between CIT-mutated individuals and the knockout mice and rats that are specifically deficient in the kinase domain supports the proposed causal link between CIT mutation and primary microcephaly in humans.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.