Evidence map›Paper›PMID 36552829›Full record

SynthesisCells2022

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Emily C Storey, Heidi R Fuller

Open access · goldAbstract readSystematic Review
In one paragraph

Synthesis in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
2.3field-weighted citation impact, top 10% 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

20 citing papers in PubMed, 27 citations in OpenAlex.

  1. Review
  2. An Unbiased Drug Screen in a Drosophila Model ofInternational journal of molecular sciences · 2026
    Article
  3. Review
  4. Missense variants in TUBA4A cause myo-tubulinopathies.Brain : a journal of neurology · 2026
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. The Influence of a Genetic Variant inInternational journal of molecular sciences · 2024
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. International journal of molecular sciences · 2023
    Review
  20. Split-GFP lamin as a tool for studyingmicroPublication biology · 2023
    Article
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.

Emily C StoreySchool of Pharmacy and Bioengineering, Keele University, Staffordshire ST5 5BG, UK.
Heidi R FullerSchool of Pharmacy and Bioengineering, Keele University, Staffordshire ST5 5BG, UK.ORCID 0000-0002-2858-869X
Robert Jones and Agnes Hunt Orthopaedic Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in genes encoding proteins associated with the linker of nucleoskeleton and cytoskeleton (LINC) complex within the nuclear envelope cause different diseases with varying phenotypes including skeletal muscle, cardiac, metabolic, or nervous system pathologies. There is some understanding of the structure of LINC complex-associated proteins and how they interact, but it is unclear how mutations in genes encoding them can cause the same disease, and different diseases with different phenotypes. Here, published mutations in LINC complex-associated proteins were systematically reviewed and analyzed to ascertain whether patterns exist between the genetic sequence variants and clinical phenotypes. This revealed

Indexed as

CytoskeletonMicrotubulesHumansMutationNuclear EnvelopeNuclear MatrixEMDemerinlamin A/ClaminopathiesLINC complexLMNAnesprinnuclear envelopeSYNE1

Identifiers

PMID36552829
PMCPMC9777268
OpenAlexW4312195615

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.