New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome (Q24673228)

2

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J Paterson

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C McKeown

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A Fryer

5

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N Carpenter

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E Holmberg

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C Wadelius

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S Kenwrick

American Journal of Human Genetics

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language of work or name

English

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publication date

June 1995

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published in

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volume

56

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issue

6

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page(s)

1304-14

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cites work

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

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The neuronal chondroitin sulfate proteoglycan neurocan binds to the neural cell adhesion molecules Ng-CAM/L1/NILE and N-CAM, and inhibits neuronal adhesion and neurite outgrowth

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X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28

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

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Neurite outgrowth on immobilized axonin-1 is mediated by a heterophilic interaction with L1(G4)

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Activation of the FGF receptor underlies neurite outgrowth stimulated by L1, N-CAM, and N-cadherin

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

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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

28 September 2017

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The MASA syndrome: a new heritable mental retardation syndrome

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

28 September 2017

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

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Drosophila neuroglian: a member of the immunoglobulin superfamily with extensive homology to the vertebrate neural adhesion molecule L1.

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MASA syndrome: further clinical delineation and chromosomal localisation

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MASA syndrome: new clinical features and linkage analysis using DNA probes

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Cell adhesion molecules and their subgroups in the nervous system

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Structure of the chicken neuron-glia cell adhesion molecule, Ng-CAM: origin of the polypeptides and relation to the Ig superfamily

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Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

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Regulation of axonal growth in the vertebrate nervous system by interactions between glycoproteins belonging to two subgroups of the immunoglobulin superfamily

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

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Sex-linked hydrocephalus. Report of a family with 15 affected members

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

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Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules

30 May 2018

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Mental retardation-clasped thumb syndrome.

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X-linked mental retardation associated with bilateral clasp thumb anomaly.

30 May 2018

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

30 May 2018

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Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1. Two L1 isoforms in the cytoplasmic region are produced by differential splicing

30 May 2018

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Several extracellular domains of the neural cell adhesion molecule L1 are involved in neurite outgrowth and cell body adhesion.

30 May 2018

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

28 November 2018

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28 November 2018

X-linked hydrocephalus

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12 December 2020

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

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12 December 2020

The organization of 3' splice-site sequences in mammalian introns

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12 December 2020

New protocols for DNA sequencing with dye terminators

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus

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12 December 2020

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers

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Crossref

https://api.crossref.org/works/10.1016/S0140-6736(95)90170-1

7 January 2021

inferred from DOI database lookup

Rapid PCR analysis of the St14 (DXS52) VNTR

1 reference

Crossref

https://api.crossref.org/works/10.1016/S0140-6736(95)90170-1

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/S0140-6736(95)90170-1

1 reference

1 reference

1 reference

PubMed publication ID

7762552

1 reference