Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q34231532

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Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.Cloning and chromosomal location of a novel member of the myotonic dystrophy family of protein kinases MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS Skeletal muscle Na currents in mice heterozygous for Six5 deficiency Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells Phospholemman is a substrate for myotonic dystrophy protein kinase.Modulation of skeletal muscle sodium channels by human myotonin protein kinase.Instability versus predictability: the molecular diagnosis of myotonic dystrophy.A study of DNA methylation in myotonic dystrophy.Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.Full-length myotonin protein kinase (72 kDa) displays serine kinase activity Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells.Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies.Myotonic dystrophy: molecular windows on a complex etiology.Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).RNA-binding protein misregulation in microsatellite expansion disorders Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.LAR tyrosine phosphatase receptor: alternative splicing is preferential to the nervous system, coordinated with cell growth and generates novel isoforms containing extensive CAG repeats.Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.Definition of regulatory sequence elements in the promoter region and the first intron of the myotonic dystrophy protein kinase gene.Overexpression of 3'-untranslated region of the myotonic dystrophy kinase cDNA inhibits myoblast differentiation in vitro.Myotonic dystrophy: will the real gene please step forward!Investigation of myotonic dystrophy kinase isoform translocation and membrane association.Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients.High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase.Developmental changes in expression of myotonic dystrophy protein kinase in the rat central nervous system.Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels.Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.Paternal transmission of congenital myotonic dystrophy.

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

http://www.wikidata.org/entity/Q34231532

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1992 nî lūn-bûn

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1992 թվականի հուլիսին հրատարակված գիտական հոդված

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1992年の論文

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Nature Genetics

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Characterization of the myoton ...... rotein isoform-encoding mRNAs.

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Amemiya C

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Baird S

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Hendriks W

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Lennon G

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Mahadevan M

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O'Hoy K

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P2860

The P-loop--a common motif in ATP- and GTP-binding proteins

Functional domains of the Drosophila melanogaster muscle myosin heavy-chain gene are encoded by alternatively spliced exons.

Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

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

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Excitation-contraction coupling in vertebrate skeletal muscle: a tale of two calcium channels.

cAMP-dependent protein kinase: framework for a diverse family of regulatory enzymes.

Absence of expression of the FMR-1 gene in fragile X syndrome.

Hereditary unstable DNA: a new explanation for some old genetic questions?

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

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261-266

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10.1038/NG0792-261

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4

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