scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1031494162 |
P356 | DOI | 10.1038/NG0897-402 |
P698 | PubMed publication ID | 9241282 |
P2093 | author name string | Bird TD | |
Tapscott SJ | |||
Klesert TR | |||
Otten AD | |||
P2860 | cites work | Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development | Q24545877 |
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene | Q28285882 | ||
Identification and expression of six family genes in mouse retina | Q28506421 | ||
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 | ||
Enhancers increase the probability but not the level of gene expression | Q34105301 | ||
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure | Q34226936 | ||
Activation of muscle-specific genes in pigment, nerve, fat, liver, and fibroblast cell lines by forced expression of MyoD. | Q34290920 | ||
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 | ||
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat | Q34374463 | ||
Use of a conditional MyoD transcription factor in studies of MyoD trans-activation and muscle determination | Q36505898 | ||
Myotonic dystrophy: will the real gene please step forward! | Q41170292 | ||
Use of retroviral vectors for gene transfer and expression | Q41582824 | ||
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. | Q52200997 | ||
Normal levels of DM RNA and myotonin protein kinase in skeletal muscle from adult myotonic dystrophy (DM) patients. | Q52523367 | ||
Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing | Q62661555 | ||
Nucleosome assembly on CTG triplet repeats | Q71143510 | ||
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy | Q71167717 | ||
Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene | Q72073093 | ||
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 | ||
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene | Q72896182 | ||
Deficiency in rhabdomyosarcomas of a factor required for MyoD activity and myogenesis | Q72957468 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | myotonic dystrophy | Q1860507 |
P304 | page(s) | 402-406 | |
P577 | publication date | 1997-08-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. | |
P478 | volume | 16 |
Q40971215 | (CTG)n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: implications for congenital myotonic dystrophy |
Q47194897 | 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. |
Q44925270 | Aberrant Myokine Signaling in Congenital Myotonic Dystrophy |
Q54982478 | Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy. |
Q38330480 | Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. |
Q35943348 | Altered replication in human cells promotes DMPK (CTG)(n) · (CAG)(n) repeat instability |
Q36848720 | Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy. |
Q39012706 | Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat. |
Q26801165 | Asparaginase treatment side-effects may be due to genes with homopolymeric Asn codons (Review-Hypothesis) |
Q36594935 | CAG/CTG repeats alter the affinity for the histone core and the positioning of DNA in the nucleosome |
Q48854625 | CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing. |
Q40789249 | CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus |
Q38663998 | Characterization of a canine tetranucleotide microsatellite marker located in the first intron of the tumor necrosis factor alpha gene |
Q52547985 | Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. |
Q40553411 | Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat |
Q34096504 | Clinical and genetic heterogeneity in myotonic dystrophies |
Q24650948 | Comparative genomics and molecular dynamics of DNA repeats in eukaryotes |
Q24554423 | Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya |
Q48726587 | Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy |
Q38713995 | CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy |
Q30855205 | Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features |
Q47072189 | D-six4 plays a key role in patterning cell identities deriving from the Drosophila mesoderm. |
Q33842956 | DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model |
Q59071144 | DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing |
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 |
Q47154610 | Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. |
Q35807015 | Distribution and characterization of regulatory elements in the human genome |
Q41643458 | Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice |
Q36939612 | Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline |
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 |
Q34699401 | Dominantly inherited, non-coding microsatellite expansion disorders |
Q92096984 | Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 |
Q47070964 | Drosophila homolog of the myotonic dystrophy-associated gene, SIX5, is required for muscle and gonad development. |
Q37695480 | Epigenetic changes and non-coding expanded repeats |
Q35210734 | Epigenetic mechanisms and genome stability. |
Q26770705 | Epigenetics and Triplet-Repeat Neurological Diseases |
Q77058046 | Evolution of simple repeats in DNA and their relation to human disease |
Q34399378 | Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues |
Q27301037 | Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells |
Q39584664 | Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation |
Q28589912 | Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site |
Q52173012 | Expression of the myotonic dystrophy locus-associated homeodomain protein in congenital myotonic dystrophy. |
Q74607477 | Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes |
Q24516571 | Functional analysis of the homeodomain protein SIX5. |
Q28585557 | Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts |
Q39408417 | Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion |
Q48726618 | Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients |
Q24555640 | In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts |
Q47933637 | Increased affiliative response to vasopressin in mice expressing the V1a receptor from a monogamous vole |
Q33804446 | Inherited skeletal muscle disorders |
Q24301335 | Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing |
Q34466715 | Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms |
Q34142085 | Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing |
Q93601664 | Medical genetics: advances in brief |
Q55560133 | Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria. |
Q54967735 | Medical genetics: advances in brief: Relationship between lifetime ovulatory cycles and over-expression of mutant P53 in epithelial ovarian cancer. |
Q28504484 | Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy |
Q36640173 | Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. |
Q27687330 | Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. |
Q26798784 | Muscle wasting in myotonic dystrophies: a model of premature aging |
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 |
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 |
Q41499535 | Myotonic dystrophy type 1 presenting as male infertility |
Q39043041 | Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. |
Q34446614 | Myotonic dystrophy--a multigene disorder. |
Q35738537 | Myotonic dystrophy: RNA pathogenesis comes into focus |
Q34658838 | Myotonic dystrophy: molecular windows on a complex etiology |
Q28287940 | New 5'-(CGG)n-3' repeats in the human genome |
Q92740840 | New myotonic dystrophy type 1 mouse model |
Q33933843 | Nuclear proteins and cell death in inherited neuromuscular disease |
Q41075540 | Overexpression of 3'-untranslated region of the myotonic dystrophy kinase cDNA inhibits myoblast differentiation in vitro |
Q37724514 | Partners in crime: bidirectional transcription in unstable microsatellite disease |
Q37216891 | RNA-mediated toxicity in neurodegenerative disease |
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. |
Q41051948 | Ribozyme-mediated trans-splicing of a trinucleotide repeat. |
Q28219080 | Six and Eya expression during human somitogenesis and MyoD gene family activation |
Q30531281 | Six4, a putative myogenin gene regulator, is not essential for mouse embryonal development. |
Q28505273 | Skeletal muscle Na currents in mice heterozygous for Six5 deficiency |
Q47747960 | Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity |
Q22253935 | Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2 |
Q33903996 | The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology? |
Q48310101 | The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients |
Q41968306 | The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat |
Q35226294 | The floppy infant: contribution of genetic and metabolic disorders |
Q37341015 | The six family of homeobox genes in development and cancer |
Q57113916 | Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9 |
Q37448481 | Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus |
Q34267388 | Transgenic mouse models for myotonic dystrophy type 1 (DM1) |
Q33936621 | Triplet repeat expansion in neuromuscular disease |
Q34446513 | Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis |
Q47069426 | UNC-39, the C. elegans homolog of the human myotonic dystrophy-associated homeodomain protein Six5, regulates cell motility and differentiation |
Q36201577 | Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells |
Q24548860 | Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein |
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