ReviewBMC medical genomics2015
Molecular genetics of human primary microcephaly: an overview.
Review in BMC medical genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
117 citing papers in PubMed, 227 citations in OpenAlex.
- Citron Kinase, a mitotic kinase with increasing significance in cancer.Cell cycle (Georgetown, Tex.) · 2026Review
- 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
- The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.Global medical genetics · 2024Article
- Autosomal recessive primary microcephaly type 2 associated with a novelFrontiers in neurology · 2024Article
- Shaping the brain: The emergence of cortical structure and folding.Developmental cell · 2023Review
- Mutations in abnormal spindle disrupt temporal transcription factor expression and trigger immune responses in the Drosophila brain.Genetics · 2023Article
- The molecular genetic landscape of human brain size variation.Cell reports · 2023Article
- Asymmetric inheritance of centrosomes maintains stem cell properties in human neural progenitor cells.eLife · 2023Article
- Acquisition of neural fate by combination of BMP blockade and chromatin modification.iScience · 2023Article
- Sociodemographic and Clinical Factors for Microcephaly Secondary to Teratogenic Infections in Brazil: An Ecological Study.Viruses · 2023Observational
- The impact of TP53 activation and apoptosis in primary hereditary microcephaly.Frontiers in neuroscience · 2023Review
- P53 independent pathogenic mechanisms contribute to BubR1 microcephaly.Frontiers in cell and developmental biology · 2023Article
- Lestaurtinib inhibits Citron kinase activity and medulloblastoma growth through induction of DNA damage, apoptosis and cytokinesis failure.Frontiers in oncology · 2023Article
- Comparative Genomics Provides Insights into Adaptive Evolution in Tactile-Foraging Birds.Genes · 2022Article
- Non-Canonical Splicing and Its Implications in Brain Physiology and Cancer.International journal of molecular sciences · 2022Review
- Region Specific Brain Organoids to Study Neurodevelopmental Disorders.International journal of stem cells · 2022Review
- Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in theMolecular syndromology · 2022Article
- Brain organoids: Establishment and application.Frontiers in cell and developmental biology · 2022Review
- Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations.Frontiers in bioengineering and biotechnology · 2022Review
57 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a significant decrease in size. MCPH is a neurogenic mitotic disorder, though affected patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Twelve MCPH loci (MCPH1-MCPH12) 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 and CDK6. It is predicted that MCPH gene mutations may lead to the disease phenotype due to a disturbed mitotic spindle orientation, premature chromosomal condensation, signalling response as a result of damaged DNA, microtubule dynamics, transcriptional control or a few other hidden centrosomal mechanisms that can regulate the number of neurons produced by neuronal precursor cells. Additional findings have further elucidated the microcephaly aetiology and pathophysiology, which has informed the clinical management of families suffering from MCPH. The provision of molecular diagnosis and genetic counselling may help to decrease the frequency of this disorder.
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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.