ArticleAmerican journal of human genetics1995
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 69 citations in OpenAlex.
- Functional Relationships between L1CAM, LC3, ATG12, and Aβ.International journal of molecular sciences · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.BMC medical genomics · 2023Review
- X-Linked Hydrocephalus with NewMolecular syndromology · 2023Article
- X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.Experimental neurology · 2023Review
- A role for the Erk MAPK pathway in modulating SAX-7/L1CAM-dependent locomotion in Caenorhabditis elegans.Genetics · 2022Article
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.Neurogenetics · 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
- Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation.The Journal of experimental medicine · 2016Article
- Review
- Three cases with L1 syndrome and two novel mutations in the L1CAM gene.European journal of pediatrics · 2015Article
- A novel nondevelopmental role of the sax-7/L1CAM cell adhesion molecule in synaptic regulation in Caenorhabditis elegans.Genetics · 2015Article
- Article
- Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.Neurogenetics · 2012Article
- L1CAM malfunction in the nervous system and human carcinomas.Cellular and molecular life sciences : CMLS · 2010Review
- Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.Human molecular genetics · 2009Article
- Biased exon/intron distribution of cryptic and de novo 3' splice sites.Nucleic acids research · 2005Article
- Detection of L1 CAM mutation in a male child with mental retardation.Indian journal of clinical biochemistry : IJCB · 2004Article
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.Journal of medical genetics · 2003Review
- An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.Molecular psychiatry · 2002Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function.
Indexed as
Identifiers
7762552PMC1801103W1599371469What 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.