(Q36342987)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

facioscapulohumeral muscular dystrophy

13 February 2020

main subject

biomarker

0 references

0 references

author

Doris G. Leung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

2

Oliver D King

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Fedik Rahimov

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Genila M Bibat

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Charles P Emerson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Louis M Kunkel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Kathryn R Wagner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

English

0 references

publication date

17 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

13 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

16234-16239

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

13 February 2020

limma

1 reference

22 June 2022

https://europepmc.org/article/PMC/3479603

inferred from PubMed Central ID database lookup

cites work

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression in HepG2 cell line

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

A unifying genetic model for facioscapulohumeral muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

ROAST: rotation gene set tests for complex microarray experiments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Genetics of human gene expression: mapping DNA variants that influence gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Id3 is a direct transcriptional target of Pax7 in quiescent satellite cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Gene expression profiling in limb-girdle muscular dystrophy 2A

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

IDI2, a second isopentenyl diphosphate isomerase in mammals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Biomarker discovery and validation: technologies and integrative approaches

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Genetic analysis of genome-wide variation in human gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Identifying differentially expressed genes using false discovery rate controlling procedures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Summaries of Affymetrix GeneChip probe level data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Isopentenyl diphosphate isomerase: a core enzyme in isoprenoid biosynthesis. A review of its biochemistry and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Molecular profiles of inflammatory myopathies.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3479603

Approaches to quality of control in diabetes care.

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1209508109

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1209508109

Unexpected sarcolemmal complement membrane attack complex deposits on nonnecrotic muscle fibers in muscular dystrophies

21 January 2018

1 reference

12 December 2020

Complement activation in muscle fiber necrosis: demonstration of the membrane attack complex of complement in necrotic fibers

1 reference

12 December 2020

Continued expression of neonatal myosin heavy chain in adult dystrophic skeletal muscle

1 reference

12 December 2020

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Definitive molecular diagnosis of facioscapulohumeral dystrophy

1 reference

12 December 2020

Variations in gene expression among different types of human skeletal muscle

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1209508109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

22988124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22988124%20AND%20SRC:MED&resulttype=core&format=json