ArticleHuman genetics2016
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
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 36 papers.
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Who cites it
36 citing papers in PubMed, 51 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
- 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
- Article
- 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
- Characterizing the key genes of COVID-19 that regulate tumor immune microenvironment and prognosis in hepatocellular carcinoma.Functional & integrative genomics · 2023Article
- Review
- Review
- DNA damage and repair: underlying mechanisms leading to microcephaly.Frontiers in cell and developmental biology · 2023Review
- 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
- Molecular evolutionary analysis of human primary microcephaly genes.BMC ecology and evolution · 2021Article
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.Journal of nephrology · 2020Article
- Cep55 promotes cytokinesis of neural progenitors but is dispensable for most mammalian cell divisions.Nature communications · 2020Article
- The journey of Zika to the developing brain.Molecular biology reports · 2020Review
- Low expression of citron kinase is associated with poor patient outcomes in hepatocellular carcinoma.Translational cancer research · 2020Article
- LIS1 determines cleavage plane positioning by regulating actomyosin-mediated cell membrane contractility.eLife · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive primary microcephaly (MCPH) is a static neurodevelopmental disorder characterized by congenital small head circumference and non-progressive intellectual disability without additional severe brain malformations. MCPH is a genetically heterogeneous disorder. Sixteen genes (MCPH1-MCPH16) have been discovered so far, mutations thereof lead to autosomal recessive primary microcephaly. In a family, segregating MCPH in an autosomal recessive manner, genome-wide homozygosity mapping mapped a disease locus to 16.9-Mb region on chromosome 12q24.11-q24.32. Following this, exome sequencing in three affected individuals of the family discovered a splice site variant (c.753+3A>T) in citron kinase (CIT) gene, segregating with the disorder in the family. CIT co-localizes to the midbody ring during cytokinesis, and its loss of expression results in defects in neurogenic cytokinesis in both humans and mice. Splice site variant in CIT, identified in this study, is predicted to abolish splice donor site. cDNA sequence of an affected individual showed retention of an intron next to the splice donor site. The study, presented here, revealed the first variant in the CIT causing MCPH in the family.
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