scholarly article | Q13442814 |
P356 | DOI | 10.1038/NG0796-325 |
P698 | PubMed publication ID | 8673132 |
P2093 | author name string | Tran K | |
Smith DB | |||
Reddy S | |||
Cros D | |||
Davis BM | |||
Balice-Gordon RJ | |||
Housman D | |||
Bronson R | |||
Rich MM | |||
Reilly P | |||
Leferovich JM | |||
Rayburn H | |||
P2860 | cites work | A novel human muscle factor related to but distinct from MyoD1 induces myogenic conversion in 10T1/2 fibroblasts | Q24339468 |
Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene | Q24339562 | ||
The protein kinase family: conserved features and deduced phylogeny of the catalytic domains | Q27860528 | ||
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. | Q27860836 | ||
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family | Q28240104 | ||
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) | Q28250990 | ||
Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products | Q28259742 | ||
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene | Q28285882 | ||
Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene | Q28512170 | ||
X chromosome-linked muscular dystrophy (mdx) in the mouse | Q28589078 | ||
Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes | Q29547355 | ||
Expression of a single transfected cDNA converts fibroblasts to myoblasts | Q29547764 | ||
Simplified mammalian DNA isolation procedure | Q29618648 | ||
Coaxially stacked RNA helices in the catalytic center of the Tetrahymena ribozyme | Q30466252 | ||
Contractile properties of muscles in myotonic dystrophy | Q33618940 | ||
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 | ||
Quantitation of muscle precursor cell activity in skeletal muscle by Northern analysis of MyoD and myogenin expression: Application to dystrophic (mdx) mouse muscle | Q84900378 | ||
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy | Q34023072 | ||
Full-length myotonin protein kinase (72 kDa) displays serine kinase activity | Q34215417 | ||
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs | Q34231532 | ||
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 | ||
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. | Q34353488 | ||
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 | ||
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat | Q34374463 | ||
Dystrophin protects the sarcolemma from stresses developed during muscle contraction | Q36259954 | ||
Genetic complementation reveals a novel regulatory role for 3' untranslated regions in growth and differentiation | Q36770883 | ||
Electrophysiological study of dystrophia myotonica | Q37076001 | ||
Sprouting and remodelling at the nerve-muscle junction | Q39746849 | ||
Contractile properties and susceptibility to exercise-induced damage of normal and mdx mouse tibialis anterior muscle | Q41082867 | ||
Anticipation in myotonic dystrophy: fact or fiction? | Q41231526 | ||
Identification, Tissue-specific Expression, and Subcellular Localization of the 80- and 71-kDa Forms of Myotonic Dystrophy Kinase Protein | Q41302208 | ||
Myopathology of myotonic dystrophy. A morphometric study | Q41598013 | ||
Absence of expression of the FMR-1 gene in fragile X syndrome | Q41669091 | ||
Identification of MRF4: a new member of the muscle regulatory factor gene family | Q41759866 | ||
Fast and slow skeletal muscles: effect of ethanol on contractility of muscles from mice. | Q45968756 | ||
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis | Q48081644 | ||
Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy | Q48089445 | ||
Translational suppression by trinucleotide repeat expansion at FMR1. | Q52016323 | ||
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. | Q52034632 | ||
Course, prognosis and complications of childhood-onset myotonic dystrophy | Q52092992 | ||
MyoD protein accumulates in satellite cells and is neurally regulated in regenerating myotubes and skeletal muscle fibers. | Q52209716 | ||
Muscular dystrophy in the mdx mouse: histopathology of the soleus and extensor digitorum longus muscles. | Q52255659 | ||
Expression of the proto-oncogene int-1 is restricted to postmeiotic male germ cells and the neural tube of mid-gestational embryos. | Q52255806 | ||
Direct evidence that oncogenic tyrosine kinases and cyclic AMP-dependent protein kinase have homologous ATP-binding sites. | Q53551132 | ||
Fetal myosin immunoreactivity in human dystrophic muscle | Q57973470 | ||
(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients | Q58194111 | ||
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation | Q60050804 | ||
Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing | Q62661555 | ||
Identification of skeletal muscle precursor cells in vivo by use of MyoD1 and myogenin probes | Q67485917 | ||
In vivo visualization of the growth of pre- and postsynaptic elements of neuromuscular junctions in the mouse | Q68453574 | ||
Electron microscopic and autoradiographic characterization of hindlimb muscle regeneration in the mdx mouse | Q68529448 | ||
Satellite cells as the source of nuclei in muscles of growing rats | Q70597273 | ||
Embryonic and foetal myosins in human skeletal muscle. The presence of foetal myosins in duchenne muscular dystrophy and infantile spinal muscular atrophy | Q71008161 | ||
Gain of glutamines, gain of function? | Q71990830 | ||
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 | ||
Abnormal sarcolemmal nuclei encountered in several cases of dystrophia myotonica | Q72399650 | ||
Alterations of the Z-lines and I-band myofilaments in human skeletal muscle | Q72405661 | ||
Identification and localization of the myotonic dystrophy gene product in skeletal and cardiac muscles | Q72767097 | ||
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene | Q72896182 | ||
P433 | issue | 3 | |
P921 | main subject | myotonic dystrophy | Q1860507 |
P304 | page(s) | 325-335 | |
P577 | publication date | 1996-07-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy | |
P478 | volume | 13 |
Q40971215 | (CTG)n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: implications for congenital myotonic dystrophy |
Q92827366 | AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1 |
Q85711918 | Age-dependent chloride channel expression in skeletal muscle fibres of normal and HSA(LR) myotonic mice |
Q52654324 | Altered nuclear structure in myotonic dystrophy type 1-derived fibroblasts. |
Q24654728 | 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 |
Q36174612 | Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase |
Q34219488 | Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization |
Q33857850 | An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) |
Q34608717 | Antisense therapy in neurology |
Q101559243 | Application of CRISPR-Cas9-Mediated Genome Editing for the Treatment of Myotonic Dystrophy Type 1 |
Q36060807 | Artificial mirtron-mediated gene knockdown: functional DMPK silencing in mammalian cells |
Q42424866 | C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes |
Q35791378 | Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy |
Q52547985 | Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. |
Q74578232 | Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) |
Q38209927 | Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies |
Q92255896 | Correction of RNA-Binding Protein CUGBP1 and GSK3β Signaling as Therapeutic Approach for Congenital and Adult Myotonic Dystrophy Type 1 |
Q43987903 | Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing |
Q48726587 | Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy |
Q41002587 | DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1. |
Q33842956 | DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model |
Q74579021 | Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy |
Q74609017 | Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts |
Q37620767 | Deletion of the Ste20-like kinase SLK in skeletal muscle results in a progressive myopathy and muscle weakness |
Q39728621 | Derivation, culture, and characterization of VUB hESC lines |
Q48473616 | Developmental changes in expression of myotonic dystrophy protein kinase in the rat central nervous system |
Q32062314 | Developmental regulation of myotonic dystrophy protein kinase in human muscle cells in vitro |
Q36277192 | Diseases of unstable repeat expansion: mechanisms and common principles |
Q41643458 | Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice |
Q34252137 | Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation |
Q92096984 | Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 |
Q37713198 | Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases |
Q73168300 | ETR-1, a homologue of a protein linked to myotonic dystrophy, is essential for muscle development in Caenorhabditis elegans |
Q50133108 | Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. |
Q37695480 | Epigenetic changes and non-coding expanded repeats |
Q36848454 | Epigenetics in nucleotide repeat expansion disorders |
Q41392519 | Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood |
Q77058046 | Evolution of simple repeats in DNA and their relation to human disease |
Q34362347 | Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR |
Q34142078 | Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy |
Q36656342 | Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts |
Q48046904 | Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene |
Q74607477 | Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes |
Q40861559 | Gene disruption in mice: models of development and disease |
Q41092886 | Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy |
Q39700299 | HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1. |
Q44420167 | Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts |
Q28585557 | Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts |
Q28646933 | Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase |
Q35033174 | Hypothesis: neoplasms in myotonic dystrophy |
Q36186164 | Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1. |
Q24328773 | Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy |
Q35309394 | Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy |
Q33808904 | Long tract of untranslated CAG repeats is deleterious in transgenic mice |
Q34142085 | Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing |
Q24310407 | MBNL1 associates with YB-1 in cytoplasmic stress granules |
Q24315686 | MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase |
Q28504484 | Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy |
Q36640173 | Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. |
Q71167684 | Model mice and human disease |
Q64980454 | Modeling of Myotonic Dystrophy Cardiac Phenotypes in Drosophila. |
Q41560194 | Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene |
Q24548314 | Molecular basis for impaired muscle differentiation in myotonic dystrophy |
Q77810812 | Molecular basis of neuromuscular diseases |
Q74458479 | Molecular biology of human arrhythmias: implications for the clinical electrophysiologist |
Q38326275 | Molecular mechanisms in DM1 - a focus on foci. |
Q57877560 | Mouse Models of Triplet Repeat Diseases |
Q26798784 | Muscle wasting in myotonic dystrophies: a model of premature aging |
Q36106234 | Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation |
Q39533050 | Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy |
Q33548657 | Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy |
Q34358301 | Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2 |
Q35633172 | Myogenic defects in myotonic dystrophy |
Q39012035 | Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism |
Q88453318 | Myotonic Dystrophy and Developmental Regulation of RNA Processing |
Q37434343 | Myotonic dystrophy mouse models: towards rational therapy development. |
Q73408342 | Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells |
Q30009539 | Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface |
Q24336794 | Myotonic dystrophy protein kinase is expressed in embryonic myocytes and is required for myotube formation |
Q28588083 | Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells |
Q24321799 | Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum |
Q41150528 | Myotonic dystrophy, knockouts, warts and all. |
Q34446614 | Myotonic dystrophy--a multigene disorder. |
Q41521385 | Myotonic dystrophy: Molecular and cellular consequences of expanded DNA repeats are elusive |
Q35738537 | Myotonic dystrophy: RNA pathogenesis comes into focus |
Q38855524 | Myotonic dystrophy: approach to therapy |
Q34778128 | Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. |
Q34658838 | Myotonic dystrophy: molecular windows on a complex etiology |
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Q64989527 | Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy. |
Q41075540 | Overexpression of 3'-untranslated region of the myotonic dystrophy kinase cDNA inhibits myoblast differentiation in vitro |
Q52540375 | Progressive atrioventricular conduction block in a mouse myotonic dystrophy model. |
Q53944704 | Properties of Ca2+-activated K+ channels in erythrocytes from patients with myotonic muscular dystrophy. |
Q37365699 | RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. |
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Q34243144 | RNA-protein interactions in unstable microsatellite diseases. |
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Q33907087 | Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase |
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Q41051948 | Ribozyme-mediated trans-splicing of a trinucleotide repeat. |
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