ArticleJournal of medical genetics1998
Genotype-phenotype correlation in L1 associated diseases.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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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
32 citing papers in PubMed, 113 citations in OpenAlex.
- Multiplexed CRISPRi Reveals a Transcriptional Switch Between KLF Activators and Repressors in the Maturing Neocortex.bioRxiv : the preprint server for biology · 2025Article
- The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.Annals of neurosciences · 2025Article
- X-Linked Hydrocephalus with NewMolecular syndromology · 2023Article
- Mice Mutated in the Third Fibronectin Domain of L1 Show Enhanced Hippocampal Neuronal Cell Death, Astrogliosis and Alterations in Behavior.Biomolecules · 2023Article
- Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.Turkish archives of pediatrics · 2022Article
- Case Report: Two NovelFrontiers in genetics · 2022Article
- Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.Experimental and therapeutic medicine · 2021Article
- Genomics of human congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).Journal of molecular neuroscience : MN · 2016Article
- Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.Neurology. Genetics · 2015Article
- Three cases with L1 syndrome and two novel mutations in the L1CAM gene.European journal of pediatrics · 2015Article
- L1CAM/Neuroglian controls the axon-axon interactions establishing layered and lobular mushroom body architecture.The Journal of cell biology · 2015Article
- A novel nondevelopmental role of the sax-7/L1CAM cell adhesion molecule in synaptic regulation in Caenorhabditis elegans.Genetics · 2015Article
- Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases.Neurologia medico-chirurgica · 2015Review
- Alterations in protein regulators of neurodevelopment in the cerebrospinal fluid of infants with posthemorrhagic hydrocephalus of prematurity.Molecular & cellular proteomics : MCP · 2012Article
- A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.Neurogenetics · 2010Article
- Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.Human molecular genetics · 2009Article
- Cell adhesion, the backbone of the synapse: "vertebrate" and "invertebrate" perspectives.Cold Spring Harbor perspectives in biology · 2009Review
- Neurovascular congruence during cerebral cortical development.Cerebral cortex (New York, N.Y. : 1991) · 2009Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the CRASH syndrome. We investigate here whether a genotype-phenotype correlation exists in CRASH syndrome since its clinical spectrum is highly variable and numerous L1 mutations have been described. We found that (1) mutations in the extracellular part of L1 leading to truncation or absence of L1 cause a severe phenotype, (2) mutations in the cytoplasmic domain of L1 give rise to a milder phenotype than extracellular mutations, and (3) extracellular missense mutations affecting amino acids situated on the surface of a domain cause a milder phenotype than those affecting amino acids buried in the core of the domain.
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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.