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

diterbitkan dalam: American Journal of Human Genetics

tanggal publikasi: 1995-06

bahasa: Inggris

subyek utama: Hidrosefalus, L1 syndrome, Adhesi sel

Cites articles 39

Date

Judul

Pengarang

1995-01-01

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus
1994-07

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
1994-05

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
1994-09-01

Activation of the FGF receptor underlies neurite outgrowth stimulated by L1, N-CAM, and N-cadherin
1994-12-01

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
1994-11-01

Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules
1994-07-01

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

Guy Van Camp
1994-04-01

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

Guy Van Camp, Stanislas Lyonnet
1993-03-01

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
1993-08-01

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

Stanislas Lyonnet, Arnold Munnich
1993-11-01

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

Melitta Schachner
1993-08-01

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
1993-06-01

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

Stanislas Lyonnet, Arnold Munnich
1992

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

David N. Cooper
1992-12-01

Regulation of axonal growth in the vertebrate nervous system by interactions between glycoproteins belonging to two subgroups of the immunoglobulin superfamily
1992-10-01

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
1992-01-01

New protocols for DNA sequencing with dye terminators

Steve Charnock-Jone
1991-06

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
1991-10-01

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

Vance P. Lemmon
1991-11

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

Esther T Stoeckli
1991-10-01

Cell adhesion molecules and their subgroups in the nervous system
1991-03-01

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

Gerald Edelman
1991-02-01

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes
1991-09-01

Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1. Two L1 isoforms in the cytoplasmic region are produced by differential splicing.
1991-04-01

Rapid PCR analysis of the St14 (DXS52) VNTR
1990-11-01

MASA syndrome: new clinical features and linkage analysis using DNA probes
1989-11-01

Drosophila neuroglian: a member of the immunoglobulin superfamily with extensive homology to the vertebrate neural adhesion molecule L1.
1989-07-01

MASA syndrome: further clinical delineation and chromosomal localisation

Mark Patterson
1989-10-01

Neural cell-to-cell adhesion and recognition
1989-06-01

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

Vance P. Lemmon
1989-12-01

The organization of 3' splice-site sequences in mammalian introns
1988-08-01

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

Melitta Schachner

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