Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene (Q34083049)

30 July 2017

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title

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene (English)

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30 July 2017

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Weller S

1

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PubMed ID

11438988

30 July 2017

Gärtner J

series ordinal

2

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PubMed ID

11438988

30 July 2017

language of work or name

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1 January 2001

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30 July 2017

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30 July 2017

18

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30 July 2017

1-12

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30 July 2017

1

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Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations

30 July 2017

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Prevention of neuronal cell death by neural adhesion molecules L1 and CHL1.

21 January 2018

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Congenital absence of pyramids and its significance in genetic diseases

21 January 2018

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Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.

21 January 2018

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Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

21 January 2018

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The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu

21 January 2018

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Disruption of the mouse L1 gene leads to malformations of the nervous system

21 January 2018

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Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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CAM-FGF receptor interactions: a model for axonal growth

21 January 2018

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A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).

21 January 2018

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Neural cell adhesion molecules in activity-dependent development and synaptic plasticity

21 January 2018

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Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

21 January 2018

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X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

21 January 2018

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The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

21 January 2018

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L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

21 January 2018

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Genotype-phenotype correlation in L1 associated diseases

21 January 2018

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L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

21 January 2018

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Tyrosine phosphorylation at a site highly conserved in the L1 family of cell adhesion molecules abolishes ankyrin binding and increases lateral mobility of neurofascin

21 January 2018

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Five novel mutations in the L1CAM gene in families with X linked hydrocephalus

21 January 2018

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Heterophilic binding of L1 on unmyelinated sensory axons mediates Schwann cell adhesion and is required for axonal survival.

21 January 2018

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Molecular structure and functional testing of human L1CAM: an interspecies comparison

21 January 2018

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The L1 family of neural cell adhesion molecules: old proteins performing new tricks

21 January 2018

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A new mutation of the L1CAM gene in an X-linked hydrocephalus family.

21 January 2018

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

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New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

21 January 2018

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Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus

21 January 2018

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The neural cell adhesion molecule N-CAM enhances L1-dependent cell-cell interactions

21 January 2018

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Functional cooperation between the neural adhesion molecules L1 and N-CAM is carbohydrate dependent

21 January 2018

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Tissue-specific expression of the L1 cell adhesion molecule is modulated by the neural restrictive silencer element

21 January 2018

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Neural cell adhesion molecule L1: signaling pathways and growth cone motility

21 January 2018

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Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

21 January 2018

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X linked hydrocephalus and MASA syndrome

21 January 2018

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Neural cell recognition molecule L1: relating biological complexity to human disease mutations

21 January 2018

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Neurite fasciculation mediated by complexes of axonin-1 and Ng cell adhesion molecule

21 January 2018

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L1 mono- and polyclonal antibodies modify cell migration in early postnatal mouse cerebellum.

21 January 2018

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A binding site for homeodomain and Pax proteins is necessary for L1 cell adhesion molecule gene expression by Pax-6 and bone morphogenetic proteins

21 January 2018

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The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

21 January 2018

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Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin

21 January 2018

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Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

21 January 2018

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

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Alcohol inhibits cell-cell adhesion mediated by human L1

21 January 2018

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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

21 January 2018

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Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

21 January 2018

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Heat-stable antigen (mouse CD24) in the brain: dual but distinct interaction with P-selectin and L1

21 January 2018

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Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

21 January 2018

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X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

21 January 2018

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L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.

21 January 2018

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The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation

21 January 2018

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A duplication in the L1CAM gene associated with X-linked hydrocephalus.

21 January 2018

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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

21 January 2018

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Separate analysis of complementary strands of restriction enzyme-digested DNA. An application of restriction fragment mass mapping by matrix-assisted laser desorption/ionization mass spectrometry

21 January 2018

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CRASH syndrome: mutations in L1CAM correlate with severity of the disease

21 January 2018

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Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.

21 January 2018

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Identification of a homophilic binding site in immunoglobulin-like domain 2 of the cell adhesion molecule L1.

21 January 2018

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The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

21 January 2018

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Hippocampal long-term potentiation and neural cell adhesion molecules L1 and NCAM

21 January 2018

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CAMs and FGF cause a local submembrane calcium signal promoting axon outgrowth without a rise in bulk calcium concentration

21 January 2018

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7 January 2021

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

1 reference

7 January 2021

Recurrence risks for congenital hydrocephalus

1 reference

7 January 2021

Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree

1 reference

7 January 2021

Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus

1 reference

7 January 2021

Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene

1 reference

7 January 2021

Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

1 reference

7 January 2021

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait

1 reference

7 January 2021

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia

1 reference

7 January 2021

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

1 reference

7 January 2021

Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells

1 reference

7 January 2021

X linked recessive inheritance of agenesis of the corpus callosum

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7 January 2021

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

1 reference

7 January 2021

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

1 reference

7 January 2021

Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression

1 reference

7 January 2021

A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus

1 reference

7 January 2021

Involvement of L1.1 in memory consolidation after active avoidance conditioning in zebrafish

1 reference

7 January 2021

X-linked mental retardation with bilateral clasped thumbs: report of another affected family

1 reference

7 January 2021

Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus

1 reference

7 January 2021

Evidence for somatic and germline mosaicism in CRASH syndrome

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7 January 2021

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

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7 January 2021

A clinical and neuroradiological study of X-linked hydrocephalus in Japan

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.1144

1 reference

30 July 2017

1 reference

PubMed ID

11438988