Evidence map›Paper›PMID 25548773›Full record

ReviewBioMed research international2014

Molecular and cellular basis of autosomal recessive primary microcephaly.

Marine Barbelanne, William Y Tsang

Open access · hybridAbstract readReview
In one paragraph

Review in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed
5.9field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

68 citing papers in PubMed, 115 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Review
  6. Case Report: Compound heterozygousFrontiers in genetics · 2025
    Article
  7. Article
  8. Novel CDKL5 targets identified in human iPSC-derived neurons.Cellular and molecular life sciences : CMLS · 2024
    Article
  9. Article
  10. Article
  11. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.American journal of medical genetics. Part A · 2023
    Article
  12. Review
  13. Control of GThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2023
    Article
  14. Prenatal Identification of a Novel Mutation in theChildren (Basel, Switzerland) · 2022
    Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Review

8 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Marine BarbelanneInstitut de Recherches Cliniques de Montréal, 110 avenue des Pins Ouest, Montréal, QC, Canada H2W 1R7 ; Faculté de Médecine, Université de Montréal, Montréal, QC, Canada H3C 3J7.ORCID 0000-0002-5025-2172
William Y TsangInstitut de Recherches Cliniques de Montréal, 110 avenue des Pins Ouest, Montréal, QC, Canada H2W 1R7 ; Faculté de Médecine, Université de Montréal, Montréal, QC, Canada H3C 3J7 ; Division of Experimental Medicine, McGill University, Montréal, QC, Canada H3A 1A3.ORCID 0000-0002-1584-616X
Montreal Clinical Research Institute · CA

Funding

Canadian Institutes of Health Research MOP-115033
6 · The paper itself

Abstract

Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.

Indexed as

AnimalsCell Cycle ProteinsCentrosomeCytoskeletal ProteinsGenetic HeterogeneityHumansIntracellular Signaling Peptides and ProteinsMicrocephalyMicrotubule-Associated ProteinsMultiprotein ComplexesMutationNerve Tissue ProteinsASPM protein, humanCDK5RAP2 protein, humanCell Cycle ProteinsCENPJ protein, humanCytoskeletal ProteinsIntracellular Signaling Peptides and ProteinsKnl1 protein, humanMCPH1 protein, humanMicrotubule-Associated ProteinsMultiprotein ComplexesNerve Tissue Proteins

Identifiers

PMID25548773
PMCPMC4274849
OpenAlexW2122669517

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.