(Q42279890)

19 October 2017

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. (English)

1 reference

limb-girdle muscular dystrophy

19 October 2017

1 reference

Madalina Raducu

1

1 reference

19 October 2017

Jonathan Baets

2

1 reference

19 October 2017

Oihane Fano

3

1 reference

19 October 2017

Rudy Van Coster

4

1 reference

19 October 2017

Jesús Cruces

5

1 reference

19 October 2017

14 March 2012

1 reference

European Journal of Human Genetics

19 October 2017

1 reference

19 October 2017

20

1 reference

19 October 2017

9

1 reference

19 October 2017

945-952

1 reference

Dystroglycanopathies: coming into focus

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Abnormal glycosylation of dystroglycan in human genetic disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Muscular dystrophies due to glycosylation defects

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Functional analysis on the 5'-flanking region of human FXR gene in HepG2 cells

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Sp1 and Sp3 recruit histone deacetylase to repress transcription of human telomerase reverse transcriptase (hTERT) promoter in normal human somatic cells

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

A broad role for the zinc finger protein ZNF202 in human lipid metabolism

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Krüppel-associated box-mediated repression of RNA polymerase II promoters is influenced by the arrangement of basal promoter elements

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Transcriptional activation by Sp1 as directed through TATA or initiator: specific requirement for mammalian transcription factor IID

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Multiple protein-DNA interactions in the TATAA-less mouse thymidylate synthase promoter

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421125

Limb–girdle muscular dystrophies

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.40

The ETS-domain transcription factor family

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22419172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Luciferase reporter gene vectors for analysis of promoters and enhancers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22419172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

On a dominantly inherited myopathy with tubular aggregates

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22419172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.40

1 reference

Dimensions Publication ID

19 October 2017

0 references

1 reference

19 October 2017

PubMed publication ID

22419172

1 reference