GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease (Q34281415)

1 August 2017

title

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease (English)

1 reference

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

1 August 2017

corrigendum / erratum

1 reference

10.1016/J.YMGME.2016.06.011

Crossref

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1016/J.YMGME.2016.06.011

author

Guy Helman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Janet S Soul

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Adeline Vanderver

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Leo Gotoh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ken Inoue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sara Mora

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Kiran Maski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Miriam Bloom

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sarah H Evans

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ljubica Caldovic

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Grace M Hobson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Yu-Ichi Goto

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

publication date

16 December 2013

1 reference

Molecular Genetics and Metabolism

1 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

111

1 reference

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12 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

393-398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Genome-wide characterization of transcriptional start sites in humans by integrative transcriptome analysis

6 July 2018

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

6 July 2018

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DBTSS provides a tissue specific dynamic view of Transcription Start Sites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Massive transcriptional start site analysis of human genes in hypoxia cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Expression of connexin47 in oligodendrocytes is regulated by the Sox10 transcription factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

WebLogo: A Sequence Logo Generator

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Variable promoter usage and alternative splicing in five mouse connexin genes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4183365

10.1016/J.YMGME.2013.12.001

28 October 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24374284%20AND%20SRC:MED&resulttype=core&format=json