SynthesisCells2022
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Synthesis in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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.
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.
Who cites it
21 citing papers in PubMed, 27 citations in OpenAlex.
- Nuclei on the move: LINC complex-dependent and -independent mechanisms of nuclear migration in development.Nucleus (Austin, Tex.) · 2026Review
- Missense variants in TUBA4A cause myo-tubulinopathies.Brain : a journal of neurology · 2026Article
- An Unbiased Drug Screen in a Drosophila Model ofInternational journal of molecular sciences · 2026Article
- Review
- Mechanical regulation of LINC complex function: structural basis, physiological roles, and disease mechanisms in transnuclear mechanotransduction.Frontiers in cell and developmental biology · 2026Review
- KASH proteins transform from passive tethers to dynamic conductors of motor-driven nuclear dynamics.Current opinion in cell biology · 2025Review
- A distinct isoform of Msp300 (nesprin) organizes the perinuclear microtubule-organizing center in adipocytes.Molecular biology of the cell · 2025Article
- Genetic cardiomyopathy mimicking isolated cardiac sarcoidosis: Diagnostic challenges with positron emission tomography.ESC heart failure · 2025Article
- Active microtubule-actin cross-talk mediated by a nesprin-2G-kinesin complex.Science advances · 2025Article
- Genetic Heterogeneity in Four Probands RevealsBiomedicines · 2024Article
- Diverse Roles of the LINC Complex in Cellular Function and Disease in the Nervous System.International journal of molecular sciences · 2024Review
- The Drosophila Nesprin-1 homolog MSP300 is required for muscle autophagy and proteostasis.Journal of cell science · 2024Article
- The Influence of a Genetic Variant inInternational journal of molecular sciences · 2024Article
- LINC complex alterations are a key feature of sporadic and familial ALS/FTD.Acta neuropathologica communications · 2024Article
- Building and breaking mechanical bridges between the nucleus and cytoskeleton: Regulation of LINC complex assembly and disassembly.Current opinion in cell biology · 2023Review
- Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever.Scientific reports · 2023Article
- AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/- spinal muscular atrophy mice.Human molecular genetics · 2023Article
- Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.PLoS genetics · 2023Article
- Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.Cells · 2023Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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
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What Socratic holds
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 Socratic graph.