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Myotonic dystrophy--a multigene disorder.
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
Myotonic dystrophy--a multigene disorder
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
author
Majid Fardaei
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
author name string
K Larkin
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
publication date
1 October 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
published in
Brain Research Bulletin
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
volume
56
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
page(s)
389-395
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
issue
3-4
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
cites work
Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic protein kinase expression in human and bovine lenses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy, knockouts, warts and all.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy: will the real gene please step forward!
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of the homeodomain protein SIX5.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myosin light chain phosphatase: subunit composition, interactions and regulation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Symplekin, a novel type of tight junction plaque protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Specificity of receptor tyrosine kinase signaling: transient versus sustained extracellular signal-regulated kinase activation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transport of proteins and RNAs in and out of the nucleus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The ancient regulatory-protein family of WD-repeat proteins
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic mapping of a second myotonic dystrophy locus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An expanded CTG trinucleotide repeat causes trans RNA interference: a new hypothesis for the pathogenesis of myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic organization and transcriptional units at the myotonic dystrophy locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complex protein interactions within the human polyadenylation machinery identify a novel component
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy reviewed: back to the future?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0361-9230%2801%2900656-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0361-9230(01)00656-6
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
PubMed ID
11719277
1 reference
stated in
Europe PubMed Central
PubMed ID
11719277
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11719277%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 December 2019
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