ArticleHuman mutation2013
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 46 citations in OpenAlex.
- An in vivo chemical genetic approach for targeted glycoproteome analysis inbioRxiv : the preprint server for biology · 2026Article
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Extracellular matrix dysregulation in aging, calcification, and cancer diseases: insights into cellular senescence, inflammation, and novel therapeutic strategies.International journal of biological sciences · 2025Review
- Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways.Essays in biochemistry · 2024Review
- Dandy-Walker syndrome: a bibliometric analysis of the most 100 cited articles.Annals of medicine and surgery (2012) · 2024Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.Human genetics · 2024Article
- Nidogen in development and disease.Frontiers in cell and developmental biology · 2024Review
- G9a inactivation in progenitor cells with Isl1-Cre with reduced recombinase activity models aspects of Dandy-Walker complex.Biology open · 2023Article
- RecessiveFrontiers in molecular neuroscience · 2022Article
- The role of basement membranes in cardiac biology and disease.Bioscience reports · 2021Review
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Article
- Developmental biology of the meninges.Genesis (New York, N.Y. : 2000) · 2019Review
- Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.Orphanet journal of rare diseases · 2018Article
- Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause.Neurogenetics · 2018Article
- The genetics of cerebellar malformations.Seminars in fetal & neonatal medicine · 2016Review
- De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.Annals of clinical and translational neurology · 2015Article
- Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.PLoS genetics · 2015Article
- Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.American journal of human genetics · 2014Article
Corrections and comments
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Authors and funding
26 authors at 5 institutions in 4 countries.
Funding
Abstract
We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles and detected a mutation in the extracellular matrix (ECM) protein-encoding gene NID1. In a second family, protein interaction network analysis identified a mutation in LAMC1, which encodes a NID1-binding partner. Structural modeling of the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the ECM in the pathogenesis of Dandy-Walker spectrum disorders.
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Registered trials
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