(Q34658838)

3 August 2017

1 reference

title

Myotonic dystrophy: molecular windows on a complex etiology (English)

1 reference

3 August 2017

Myotonic dystrophy: Molecular windows on a complex etiology (English)

1 reference

https://api.crossref.org/works/10.1093/NAR/26.6.1363

11 December 2024

1 reference

Z. Korade-Mirnics

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9490778

11 December 2024

P. Babitzke

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9490778

11 December 2024

E. Hoffman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9490778

11 December 2024

language of work or name

English

0 references

publication date

1 March 1998

1 reference

3 August 2017

15 March 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9490778

full work available at URL

11 December 2024

https://academic.oup.com/nar/article-pdf/26/6/1363/9467771/26-6-1363.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9490778

https://europepmc.org/articles/PMC147423

11 December 2024

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9490778

https://europepmc.org/articles/PMC147423?pdf=render

11 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9490778

11 December 2024

published in

Nucleic Acids Research

1 reference

3 August 2017

volume

26

1 reference

3 August 2017

issue

6

1 reference

3 August 2017

page(s)

1363-1368

1 reference

Regulation of tryptophan biosynthesis: Trp‐ing the TRAP or how Bacillus subtilis reinvented the wheel

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage‐gated sodium channels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Mutator specificity and disease: looking over the FENce

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Investigation of myotonic dystrophy kinase isoform translocation and membrane association

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Molecular basis of genetic instability of triplet repeats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

NAB2: a yeast nuclear polyadenylated RNA-binding protein essential for cell viability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Coaxially stacked RNA helices in the catalytic center of the Tetrahymena ribozyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Characterization of nuclear polyadenylated RNA-binding proteins in Saccharomyces cerevisiae.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Genomic organization and transcriptional units at the myotonic dystrophy locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

The intracellular localization of messenger RNAs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Homozygosity for Waardenburg syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

The structure of trp RNA-binding attenuation protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

TFIIH: a link between transcription, DNA repair and cell cycle regulation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147423

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2F26.6.1363

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2F26.6.1363

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2F26.6.1363

Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2F26.6.1363

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2F26.6.1363

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2F26.6.1363

Alanine-scanning mutagenesis of Bacillus subtilis trp RNA-binding attenuation protein (TRAP) reveals residues involved in tryptophan binding and RNA binding

21 January 2018

1 reference

12 December 2020

Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Stutter, stumble, or fall of a kinase?

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

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

1 reference

12 December 2020

A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Repeat expansion--all in a flap?

1 reference

12 December 2020

American Journal of Human Genetics

1

49

68

Harley

1991

1 reference

https://api.crossref.org/works/10.1093/NAR/26.6.1363

Biochemistry and Molecular Biology International

11 December 2024

30

29

291

Novelli

1993

1 reference

https://api.crossref.org/works/10.1093/NAR/26.6.1363

11 December 2024

Identifiers

1 reference

3 August 2017

1 reference

3 August 2017

1 reference