Myotonic dystrophy: molecular windows on a complex etiology

scientific article

Myotonic dystrophy: molecular windows on a complex etiology is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1093/NAR/26.6.1363
P932PMC publication ID147423
P698PubMed publication ID9490778
P5875ResearchGate publication ID13740461

P2093author name stringE Hoffman
P Babitzke
Z Korade-Mirnics
P2860cites workIdentification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophyQ24328773
Homozygosity for Waardenburg syndromeQ24671807
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Characterization of nuclear polyadenylated RNA-binding proteins in Saccharomyces cerevisiae.Q27939401
Molecular basis of genetic instability of triplet repeatsQ28277837
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the geneQ28285882
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophyQ28288794
Coaxially stacked RNA helices in the catalytic center of the Tetrahymena ribozymeQ30466252
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated casesQ33677815
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.Q33968674
Full-length myotonin protein kinase (72 kDa) displays serine kinase activityQ34215417
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structureQ34226936
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAsQ34231532
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.Q34302066
Genomic organization and transcriptional units at the myotonic dystrophy locusQ34321945
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophyQ34348155
An unstable triplet repeat in a gene related to myotonic muscular dystrophyQ34355359
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.Q34363062
Structure and genomic sequence of the myotonic dystrophy (DM kinase) geneQ34365557
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeatQ34374463
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophyQ35194656
Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Q35888939
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissuesQ36235446
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcriptsQ36656342
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genesQ36656460
RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.Q37365699
Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes.Q38289363
TFIIH: a link between transcription, DNA repair and cell cycle regulation.Q40445613
The intracellular localization of messenger RNAsQ40517142
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.Q40567709
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.Q41097952
Investigation of myotonic dystrophy kinase isoform translocation and membrane associationQ41190818
Mutator specificity and disease: looking over the FENceQ41329157
Regulation of tryptophan biosynthesis: Trp-ing the TRAP or how Bacillus subtilis reinvented the wheelQ41651263
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year periodQ42667777
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP geneQ48046904
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytesQ48196688
Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channelsQ48953016
Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.Q50522916
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.Q50522919
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.Q50975967
Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes.Q52011687
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.Q52200997
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coliQ54611269
Hypermutable myotonic dystrophy CTG repeats in transgenic miceQ58992775
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutationQ60050804
Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and ProcessingQ62661555
A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repairQ64389285
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophyQ67513917
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscleQ70720300
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X lociQ71145616
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathyQ71167717
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal alleleQ72096934
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elementsQ72333265
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophyQ72611874
Repeat expansion--all in a flap?Q73388102
Alanine-scanning mutagenesis of Bacillus subtilis trp RNA-binding attenuation protein (TRAP) reveals residues involved in tryptophan binding and RNA bindingQ73561620
Stutter, stumble, or fall of a kinase?Q80505770
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectmyotonic dystrophyQ1860507
P304page(s)1363-1368
P577publication date1998-03-01
P1433published inNucleic Acids ResearchQ135122
P1476titleMyotonic dystrophy: molecular windows on a complex etiology
P478volume26

Reverse relations

cites work (P2860)
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Q40684026Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease
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Q34778128Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.
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Q48168210Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.
Q33903996The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?
Q24548860Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

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