ReviewGenetics research2018
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Review in Genetics research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 87 citations in OpenAlex.
- MFSD2A in health and disease: lysolipid transport, barrier physiology, and translational boundaries.Molecular biomedicine · 2026Review
- The microcephaly protein Abnormal Spindle has an essential role in symmetrically dividing neural precursors to promote brain growth and development.Developmental biology · 2026Article
- Mechanical constraints regulate embryonic stem cell mitosis in the developing brain.The EMBO journal · 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
- CEP170 as a novel molecular link between centrosomal function and cerebral cortical development.Journal of biomedical science · 2026Article
- Drospondin, a glial glycoprotein with similarities to human Reelin/F-spondin, contributes toProceedings of the National Academy of Sciences of the United States of America · 2026Article
- A Human Neural Tube Model Using 4D Self-Folding Smart Scaffolds.Advanced healthcare materials · 2026Article
- STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.International journal of molecular sciences · 2025Article
- CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.EMBO molecular medicine · 2025Article
- Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review.Epidemiologia (Basel, Switzerland) · 2025Review
- TheCells · 2025Article
- Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.Aging cell · 2025Article
- Article
- Molecular functions of ANKLE2 and its implications in human disease.Disease models & mechanisms · 2024Review
- The Role of Major Facilitator Superfamily Domain-Containing 2a in the Central Nervous System.Cellular and molecular neurobiology · 2023Review
- Lestaurtinib inhibits Citron kinase activity and medulloblastoma growth through induction of DNA damage, apoptosis and cytokinesis failure.Frontiers in oncology · 2023Article
- Proliferation Analysis of Cerebellar Granule Neuron Progenitors for Microcephaly Research, Using Immunofluorescent Staining and Flow Cytometry.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans.Frontiers in cell and developmental biology · 2023Review
- Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.Human genetics · 2022Article
- ASPM promotes ATR-CHK1 activation and stabilizes stalled replication forks in response to replication stress.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary microcephaly (MCPH) is an autosomal recessive sporadic neurodevelopmental ailment with a trivial head size characteristic that is below 3-4 standard deviations. MCPH is the smaller upshot of an architecturally normal brain; a significant decrease in size is seen in the cerebral cortex. At birth MCPH presents with non-progressive mental retardation, while secondary microcephaly (onset after birth) presents with and without other syndromic features. MCPH is a neurogenic mitotic syndrome nevertheless pretentious patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Eighteen MCPH loci (MCPH1-MCPH18) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6, MFSD2A, ANKLE2, CIT and WDFY3, clarifying our understanding about the molecular basis of microcephaly genetic disorder. It has previously been reported that phenotype disease is caused by MCB gene mutations and the causes of this phenotype are disarrangement of positions and organization of chromosomes during the cell cycle as a result of mutated DNA, centriole duplication, neurogenesis, neuronal migration, microtubule dynamics, transcriptional control and the cell cycle checkpoint having some invisible centrosomal process that can manage the number of neurons that are produced by neuronal precursor cells. Furthermore, researchers inform us about the clinical management of families that are suffering from MCPH. Establishment of both molecular understanding and genetic advocating may help to decrease the rate of this ailment. This current review study examines newly identified genes along with previously identified genes involved in autosomal recessive MCPH.
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Registered trials
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.