(Q33824335)

29 July 2017

title

A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice (English)

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29 July 2017

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Alexis Tapanes-Castillo

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29 July 2017

Eli J Weaver

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29 July 2017

Robin P Smith

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29 July 2017

Yoshimasa Kamei

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29 July 2017

Tamara Caspary

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29 July 2017

Kara L Hamilton-Nelson

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29 July 2017

Susan H Slifer

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29 July 2017

Eden R Martin

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29 July 2017

John L Bixby

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29 July 2017

Vance P Lemmon

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29 July 2017

publication date

30 June 2009

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29 July 2017

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29 July 2017

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29 July 2017

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29 July 2017

page(s)

53-71

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describes a project that uses

29 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2863031/fullTextXML

inferred from PubMed Central ID database lookup

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4 July 2018

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Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactions

4 July 2018

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4 July 2018

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RanBPM is an L1-interacting protein that regulates L1-mediated mitogen-activated protein kinase activation

4 July 2018

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Dephosphorylation and internalization of cell adhesion molecule L1 induced by theta burst stimulation in rat hippocampus

4 July 2018

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L1-mediated branching is regulated by two ezrin-radixin-moesin (ERM)-binding sites, the RSLE region and a novel juxtamembrane ERM-binding region.

4 July 2018

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Genetic analysis of inherited hydrocephalus in a rat model.

4 July 2018

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The structure of the choroid plexus and the physiology of the choroid plexus epithelium

4 July 2018

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Brain development in mice lacking L1-L1 homophilic adhesion

4 July 2018

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The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate

4 July 2018

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The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice

4 July 2018

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Mapping Modifiers Affecting Muscularity of the Myostatin Mutant (MstnCmpt-dl1Abc) Compact Mouse

4 July 2018

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Quantitative trait loci modulate ventricular size in the mouse brain

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

R/qtl: QTL mapping in experimental crosses

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.

4 July 2018

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L1 endocytosis is controlled by a phosphorylation-dephosphorylation cycle stimulated by outside-in signaling by L1.

4 July 2018

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Functional binding interaction identified between the axonal CAM L1 and members of the ERM family

4 July 2018

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The art and design of genetic screens: Drosophila melanogaster

4 July 2018

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Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

4 July 2018

1 reference

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A MAP kinase-signaling pathway mediates neurite outgrowth on L1 and requires Src-dependent endocytosis.

4 July 2018

1 reference

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Genealogies of mouse inbred strains

4 July 2018

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Activation of the MAPK signal cascade by the neural cell adhesion molecule L1 requires L1 internalization

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Genotype-phenotype correlation in L1 associated diseases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Identification of rat susceptibility loci for adjuvant-oil-induced arthritis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Adhesion molecules and inherited diseases of the human nervous system

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

CRASH Syndrome: Mutations in L1CAM Correlate with Severity of the Disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

CAM-FGF receptor interactions: a model for axonal growth

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

A nonneuronal isoform of cell adhesion molecule L1: tissue-specific expression and functional analysis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Agenesis of the corpus callosum associated with MASA syndrome.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Clinical aspects of the MASA syndrome in a large family, including expressing females.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Overexpression of TGF-beta 1 in the central nervous system of transgenic mice results in hydrocephalus.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Increased central nervous system production of extracellular matrix components and development of hydrocephalus in transgenic mice overexpressing transforming growth factor-beta 1

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

A biochemical characterization of the binding of osteopontin to integrins alpha v beta 1 and alpha v beta 5

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

X-Linked congenital hydrocephalus

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

X-linked mental retardation and-or hydrocephalus

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Involvement of the nerve growth factor-inducible large external glycoprotein (NILE) in neurite fasciculation in primary cultures of rat brain

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

An L1-like molecule, the 8D9 antigen, is a potent substrate for neurite extension

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Purification of the transforming growth factor-beta (TGF-beta) binding proteoglycan betaglycan

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactions.

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0203-3

Hydrocephalus in children born in 1999-2002: epidemiology, outcome and ophthalmological findings

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Pre- and postsynaptic actions of L1-CAM in nicotinic pathways.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Genetic dissection of mammalian Cdc7 kinase: cell cycle and developmental roles.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

SPARC-like 1 regulates the terminal phase of radial glia-guided migration in the cerebral cortex

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Differential effects of NgCAM and N-cadherin on the development of axons and dendrites by cultured hippocampal neurons

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

Severe hydrocephalus in L1-deficient mice

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863031

29 October 2018

X-linked hydrocephalus

1 reference

12 December 2020

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10048-009-0203-3

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference