ArticleNeurogenetics2010
A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
Article in Neurogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
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Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- Identification of CSPG4 as a Biomarker and Therapeutic Target for Infantile Post-Hemorrhagic Hydrocephalus via Multi-Omics Analysis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Identification and functional characteristics of a novel splice site variant inFrontiers in genetics · 2025Article
- The Cell Adhesion Molecule L1 Interacts with Methyl CpG Binding Protein 2 via Its Intracellular Domain.International journal of molecular sciences · 2022Article
- Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.American journal of human genetics · 2022Article
- A role for the Erk MAPK pathway in modulating SAX-7/L1CAM-dependent locomotion in Caenorhabditis elegans.Genetics · 2022Article
- Multiple PDZ domain protein maintains patterning of the apical cytoskeleton in sensory hair cells.Development (Cambridge, England) · 2021Article
- Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.International journal of molecular sciences · 2019Review
- Understanding variability in ethanol teratogenicity.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Downregulation of L1 perturbs neuronal migration and alters the expression of transcription factors in murine neocortex.Journal of neuroscience research · 2013Article
- Article
- Junctional adhesion molecule (JAM)-C deficient C57BL/6 mice develop a severe hydrocephalus.PloS one · 2012Article
- Dscam mutation leads to hydrocephalus and decreased motor function.Protein & cell · 2011Article
- Transcriptional profiling of intrinsic PNS factors in the postnatal mouse.Molecular and cellular neurosciences · 2011Article
- Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.Molecular syndromology · 2010Article
- L1CAM malfunction in the nervous system and human carcinomas.Cellular and molecular life sciences : CMLS · 2010Review
- "CRASH"ing with the worm: insights into L1CAM functions and mechanisms.Developmental dynamics : an official publication of the American Association of Anatomists · 2010Review
- Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.Human molecular genetics · 2009Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
Humans with L1 cell adhesion molecule (L1CAM) mutations exhibit X-linked hydrocephalus, as well as other severe neurological disorders. L1-6D mutant mice, which are homozygous for a deletion that removes the sixth immunoglobulin-like domain of L1cam, seldom display hydrocephalus on the 129/Sv background. However, the same L1-6D mutation produces severe hydrocephalus on the C57BL/6J background. To begin to understand how L1cam deficiencies result in hydrocephalus and to identify modifier loci that contribute to X-linked hydrocephalus by genetically interacting with L1cam, we conducted a genome-wide scan on F2 L1-6D mice, bred from L1-6D 129S2/SvPasCrlf and C57BL/6J mice. Linkage studies, utilizing chi-square tests and quantitative trait loci mapping techniques, were performed. Candidate modifier loci were further investigated in an extension study. Linkage was confirmed for a locus on chromosome 5, which we named L1cam hydrocephalus modifier 1 (L1hydro1), p = 4.04 X 10(-11).
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What OpenQuestion 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 OpenQuestion graph.