ArticleNature genetics2011
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Deciphering cell-type-and temporally specific matrisome expression signatures in human cortical development and neurodevelopmental disorders via scRNA-seq meta-analysis.Nature communications · 2025Pooled it
- Novel HomozygousLife (Basel, Switzerland) · 2026Article
- Gene variants in periventricular nodular heterotopia.Acta epileptologica · 2026Review
- Article
- A temporal cortex cell atlas highlights gene expression dynamics during human brain maturation.Nature genetics · 2024Article
- Preliminary identification of somatic mutations profile in ACL injury.Scientific reports · 2024Article
- FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population.BMC medical genomics · 2024Article
- Cell type-specific gene expression dynamics during human brain maturation.bioRxiv : the preprint server for biology · 2024Article
- Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Nature communications · 2023Article
- Molecular Mechanisms of Endometriosis Revealed Using Omics Data.Biomedicines · 2023Review
- Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nature medicine · 2023Article
- A New Case With Cortical Malformation Caused by Biallelic Variants inNeurology. Genetics · 2022Article
- Extracellular Matrix Recycling as a Novel Plasticity Mechanism With a Potential Role in Disease.Frontiers in cellular neuroscience · 2022Review
- Case report:Frontiers in genetics · 2022Article
- Identification of a basement membrane-related gene signature for predicting prognosis and estimating the tumor immune microenvironment in breast cancer.Frontiers in endocrinology · 2022Article
- RecessiveFrontiers in molecular neuroscience · 2022Article
- Cortical connectivity in the face of congenital structural changes-A case of homozygous LAMC3 mutation.Brain and behavior · 2021Article
- Diverse genetic causes of polymicrogyria with epilepsy.Epilepsia · 2021Article
- Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.BMC medical genomics · 2021Article
- The Role of the Extracellular Matrix in Neural Progenitor Cell Proliferation and Cortical Folding During Human Neocortex Development.Frontiers in cellular neuroscience · 2021Review
3 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 9 institutions in 2 countries.
Funding
Abstract
The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin γ3 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations.
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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.