(Q30487517)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

0 references

8

1 reference

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22 January 2020

1

Robert H Baloh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Amy Strickland

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Elizabeth Ryu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Nam Le

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Timothy Fahrner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Mao Yang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Rakesh Nagarajan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

1 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

2312-2321

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

The molecular machinery of myelin gene transcription in Schwann cells

22 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss.

20 June 2018

1 reference

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Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

The dominantly inherited motor and sensory neuropathies: clinical and molecular advances

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Direct regulation of myelin protein zero expression by the Egr2 transactivator

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Nab proteins are essential for peripheral nervous system myelination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Charcot-Marie-Tooth disease: an update

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Mechanisms controlling axonal sprouting at the neuromuscular junction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

The local differentiation of myelinated axons at nodes of Ranvier

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Disease mechanisms in inherited neuropathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Signals that determine Schwann cell identity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Frequent and early loss of the EGR1 corepressor NAB2 in human prostate carcinoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Developmental clustering of ion channels at and near the node of Ranvier

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

A novel activation function for NAB proteins in EGR-dependent transcription of the luteinizing hormone beta gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Nab proteins mediate a negative feedback loop controlling Krox-20 activity in the developing hindbrain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Charcot-Marie-Tooth disease: a gene-dosage effect

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Schwann cell development, differentiation and myelination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by proliferative and differentiative stimuli

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Transcriptional activity of the zinc finger protein NGFI-A is influenced by its interaction with a cellular factor.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Krox-20 controls myelination in the peripheral nervous system

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Identification of NAB1, a repressor of NGFI-A- and Krox20-mediated transcription

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Hereditary motor end-plate disease in the mouse: light and electron microscopic studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Development of myelinated nerve fibers in the sixth cranial nerve of the rat: a quantitative electron microscope study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Motor neurone sprouting induced by prolonged tetrodotoxin block of nerve action potentials

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Motor Nerve Sprouting and Acetylcholine Receptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Dysmyelinated lower motor neurons retract and regenerate dysfunctional synaptic terminals.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Altered expression of ion channel isoforms at the node of Ranvier in P0-deficient myelin mutants.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Distal axonopathy in peripheral nerves of PMP22-mutant mice.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679588

A transgenic rat model of Charcot-Marie-Tooth disease

26 November 2018

1 reference

12 December 2020

Potassium channel distribution, clustering, and function in remyelinating rat axons

1 reference

12 December 2020

Peripheral Myelin Maintenance Is a Dynamic Process Requiring Constant Krox20 Expression

1 reference

12 December 2020

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

1 reference

12 December 2020

Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons

1 reference

12 December 2020

10.1523/JNEUROSCI.2168-08.2009

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19244508%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference