(Q33778705)

29 July 2017

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo (English)

1 reference

NISC Comparative Sequencing Program

29 July 2017

William J Pavan

11

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15

object named as

NISC Comparative Sequencing Program

1 reference

29 July 2017

14

Eric D Green

1 reference

29 July 2017

1

Anthony Antonellis

1 reference

29 July 2017

13

James R Lupski

1 reference

29 July 2017

10

Seneca L Bessling

1 reference

29 July 2017

Megan Y Dennis

2

1 reference

29 July 2017

Grzegorz Burzynski

3

1 reference

29 July 2017

Jimmy Huynh

4

1 reference

29 July 2017

Valerie Maduro

5

1 reference

29 July 2017

Chani J Hodonsky

6

1 reference

29 July 2017

Mehrdad Khajavi

7

1 reference

29 July 2017

Kinga Szigeti

8

1 reference

29 July 2017

Sandeep Mukkamala

9

1 reference

29 July 2017

Andrew S McCallion

12

1 reference

29 July 2017

language of work or name

English

0 references

publication date

16 December 2010

1 reference

29 July 2017

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29 July 2017

5

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29 July 2017

12

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29 July 2017

e14346

1 reference

Creative Commons CC0 License

29 July 2017

start time

16 December 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

A G protein-coupled receptor is essential for Schwann cells to initiate myelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Induction of myelin protein zero by early growth response 2 through upstream and intragenic elements

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Interactions of Sox10 and Egr2 in myelin gene regulation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Direct regulation of myelin protein zero expression by the Egr2 transactivator

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) 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=3002941

The ENCODE (ENCyclopedia Of DNA Elements) Project

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Finishing the euchromatic sequence of the human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Comparative analyses of multi-species sequences from targeted genomic regions

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Myelin sheaths: glycoproteins involved in their formation, maintenance and degeneration

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

TRANSFAC: transcriptional regulation, from patterns to profiles

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

The human genome browser at UCSC

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Tetrameric assembly of full-sequence protein zero myelin glycoprotein by synchrotron x-ray scattering

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Multiple regulatory elements control transcription of the peripheral myelin protein zero 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=3002941

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Parallel evolution and coexpression of the proteolipid proteins and protein zero in vertebrate myelin.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Stages of embryonic development of the zebrafish

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 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=3002941

Lines of murine oligodendroglial precursor cells immortalized by an activated neu tyrosine kinase show distinct degrees of interaction with axons in vitro and in vivo.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Biochemical and Cellular Properties of Three Immortalized Schwann Cell Lines Expressing Different Levels of the Myelin‐Associated Glycoprotein

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Isolation and analysis of the gene encoding peripheral myelin protein zero

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Myelin protein zero exists as dimers and tetramers in native membranes of Xenopus laevis peripheral nerve

4 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0014346

Characterization of myelination in the developing zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0014346

A screen for mutations in zebrafish that affect myelin gene expression in Schwann cells and oligodendrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0014346

Evolution of myelin proteolipid proteins: gene duplication in teleosts and expression pattern divergence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0014346

PipMaker: a World Wide Web server for genomic sequence alignments.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Zebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002941

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

30 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0014346

Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish

21 January 2018

1 reference

12 December 2020

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

12 December 2020

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1 reference

12 December 2020

Conservation of RET regulatory function from human to zebrafish without sequence similarity

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0014346

Identifiers

DOI

1 reference

29 July 2017

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1 reference

29 July 2017

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