(Q42056967)

English

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

scientific article published on November 1998

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

0 references

child mortality

0 references

author name string

Michaelis RC

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Du YZ

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Schwartz CE

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

language of work or name

0 references

publication date

1 November 1998

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

35

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

11

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

901-904

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

X linked hydrocephalus and MASA syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Involvement of p90rsk in neurite outgrowth mediated by the cell adhesion molecule L1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Casein kinase II phosphorylates the neural cell adhesion molecule L1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Colocalization of the homophilic binding site and the neuritogenic activity of the cell adhesion molecule L1 to its second Ig-like domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

X-linked mental retardation and-or hydrocephalus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Membrane glycoproteins involved in neurite fasciculation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Inhibition of Schwann cell myelination in vitro by antibody to the L1 adhesion molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Functional expression of a full-length cDNA coding for rat neural cell adhesion molecule L1 mediates homophilic intercellular adhesion and migration of cerebellar neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

Cell adhesion molecule L1 guides cell migration in primary reaggregation cultures of mouse cerebellar cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

5 June 2018

A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

17 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051481

17 August 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked hydrocephalus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.11.901

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42056967&oldid=1932710233"