(Q41521385)

2 October 2017

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title

Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive (English)

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2 October 2017

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Strong PN

1

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PubMed ID

9211188

2 October 2017

Brewster BS

series ordinal

2

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2 October 2017

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

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2 October 2017

20

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2 October 2017

159-170

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2 October 2017

2

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https://scigraph.springernature.com/pub.10.1023/a:1005396420442

2 October 2017

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cites work

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

12 December 2020

Somatic instability of CTG repeat in myotonic dystrophy

1 reference

12 December 2020

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

1 reference

12 December 2020

Full-length myotonin protein kinase (72 kDa) displays serine kinase activity

1 reference

12 December 2020

Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes.

1 reference

12 December 2020

Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene

1 reference

12 December 2020

Myotonic dystrophy gene analysis in affected Israeli families

1 reference

12 December 2020

A novel serine/threonine kinase binding the Ras-related RhoA GTPase which translocates the kinase to peripheral membranes

1 reference

12 December 2020

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements

1 reference

12 December 2020

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

12 December 2020

Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

1 reference

12 December 2020

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

1 reference

12 December 2020

Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype

1 reference

12 December 2020

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

1 reference

12 December 2020

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.

1 reference

12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

12 December 2020

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

1 reference

12 December 2020

The myotonin-protein kinase phosphorylates tyrosine residues in normal human skeletal muscle

1 reference

12 December 2020

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

12 December 2020

Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.

1 reference

12 December 2020

Myotonic dystrophy kinase is a component of neuromuscular junctions

1 reference

12 December 2020

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1 reference

12 December 2020

Myotonic dystrophy reviewed: back to the future?

1 reference

12 December 2020

Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition

1 reference

12 December 2020

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

1 reference

12 December 2020

Anticipation in myotonic dystrophy: new light on an old problem

1 reference

12 December 2020

Genomic organization and transcriptional units at the myotonic dystrophy locus

1 reference

12 December 2020

Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein

1 reference

12 December 2020

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

12 December 2020

Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy.

1 reference

12 December 2020

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

1 reference

12 December 2020

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.

1 reference

12 December 2020

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1 reference

12 December 2020

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

1 reference

12 December 2020

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

1 reference

12 December 2020

Identification of a protein product of the myotonic dystrophy gene using peptide specific antibodies.

1 reference

12 December 2020

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

12 December 2020

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1 reference

12 December 2020

Identification and localization of the myotonic dystrophy gene product in skeletal and cardiac muscles

1 reference

12 December 2020

Negative regulatory sequences in the lin-14 3'-untranslated region are necessary to generate a temporal switch during Caenorhabditis elegans development

1 reference

12 December 2020

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

12 December 2020

Control of the sperm–oocyte switch in Caenorhabditis elegans hermaphrodites by the fem-3 3′ untranslated region

1 reference

12 December 2020

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

12 December 2020

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1 reference

12 December 2020

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation

1 reference

12 December 2020

Possible role of apamin-sensitive K+ channels in myotonic dystrophy

1 reference

12 December 2020

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

1 reference

12 December 2020

Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy.

1 reference

12 December 2020

Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells.

1 reference

12 December 2020

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

1 reference

12 December 2020

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

1 reference

12 December 2020

CpG-rich islands and the function of DNA methylation

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005396420442

1 reference

PubMed ID

9211188

Dimensions Publication ID

2 October 2017

0 references

1 reference

PubMed ID

9211188