scholarly article | Q13442814 |
review article | Q7318358 |
P2093 | author name string | E Hoffman | |
P Babitzke | |||
Z Korade-Mirnics | |||
P2860 | cites work | Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy | Q24328773 |
Homozygosity for Waardenburg syndrome | Q24671807 | ||
The structure of trp RNA-binding attenuation protein | Q27730178 | ||
NAB2: a yeast nuclear polyadenylated RNA-binding protein essential for cell viability | Q27934906 | ||
Characterization of nuclear polyadenylated RNA-binding proteins in Saccharomyces cerevisiae. | Q27939401 | ||
Molecular basis of genetic instability of triplet repeats | Q28277837 | ||
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene | Q28285882 | ||
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy | Q28288794 | ||
Coaxially stacked RNA helices in the catalytic center of the Tetrahymena ribozyme | Q30466252 | ||
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases | Q33677815 | ||
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 activity | Q34215417 | ||
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure | Q34226936 | ||
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs | Q34231532 | ||
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 locus | Q34321945 | ||
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy | Q34348155 | ||
An unstable triplet repeat in a gene related to myotonic muscular dystrophy | Q34355359 | ||
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) gene | Q34365557 | ||
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat | Q34374463 | ||
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy | Q35194656 | ||
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 tissues | Q36235446 | ||
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts | Q36656342 | ||
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes | Q36656460 | ||
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 RNAs | Q40517142 | ||
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 association | Q41190818 | ||
Mutator specificity and disease: looking over the FENce | Q41329157 | ||
Regulation of tryptophan biosynthesis: Trp-ing the TRAP or how Bacillus subtilis reinvented the wheel | Q41651263 | ||
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period | Q42667777 | ||
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene | Q48046904 | ||
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes | Q48196688 | ||
Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels | Q48953016 | ||
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. coli | Q54611269 | ||
Hypermutable myotonic dystrophy CTG repeats in transgenic mice | Q58992775 | ||
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation | Q60050804 | ||
Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing | Q62661555 | ||
A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair | Q64389285 | ||
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy | Q67513917 | ||
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle | Q70720300 | ||
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci | Q71145616 | ||
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy | Q71167717 | ||
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele | Q72096934 | ||
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements | Q72333265 | ||
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy | Q72611874 | ||
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 binding | Q73561620 | ||
Stutter, stumble, or fall of a kinase? | Q80505770 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | myotonic dystrophy | Q1860507 |
P304 | page(s) | 1363-1368 | |
P577 | publication date | 1998-03-01 | |
P1433 | published in | Nucleic Acids Research | Q135122 |
P1476 | title | Myotonic dystrophy: molecular windows on a complex etiology | |
P478 | volume | 26 |
Q50492155 | A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus. |
Q26801165 | Asparaginase treatment side-effects may be due to genes with homopolymeric Asn codons (Review-Hypothesis) |
Q77931827 | Counting muscular dystrophies in the post-molecular census |
Q92096984 | Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 |
Q35623368 | Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing |
Q37125766 | Genetic determinants of cardiac hypertrophy |
Q40684026 | Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease |
Q37867324 | Impact of polymorphisms in the renin-angiotensin-aldosterone system on hypertrophic cardiomyopathy |
Q28504484 | Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy |
Q34641881 | Modifier genes for hypertrophic cardiomyopathy |
Q34021080 | Molecular genetics and pathogenesis of hypertrophic cardiomyopathy |
Q35586125 | Molecular genetics of arrhythmias and cardiovascular conditions associated with arrhythmias |
Q34830396 | Myotonic dystrophy type 2. |
Q34778128 | Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. |
Q78766771 | PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype |
Q24290177 | Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy |
Q48168210 | Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. |
Q33903996 | The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology? |
Q24548860 | Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein |
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