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Search results 101 to 152 out of 152 for Dmpk

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Category: Publication
Type Details Score
Publication
First Author: Foiry L
Year: 2006
Journal: Hum Genet
Title: Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.
Volume: 119
Issue: 5
Pages: 520-6
Publication
First Author: Lee JE
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1.
Volume: 109
Issue: 11
Pages: 4221-6
Publication
First Author: López Castel A
Year: 2011
Journal: Hum Mol Genet
Title: Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
Volume: 20
Issue: 1
Pages: 1-15
Publication
First Author: Zu T
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Non-ATG-initiated translation directed by microsatellite expansions.
Volume: 108
Issue: 1
Pages: 260-5
Publication  
First Author: Ginjupalli VKM
Year: 2023
Journal: Front Physiol
Title: Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1.
Volume: 14
Pages: 1257682
Publication
First Author: Savouret C
Year: 2004
Journal: Mol Cell Biol
Title: MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.
Volume: 24
Issue: 2
Pages: 629-37
Publication
First Author: Gomes-Pereira M
Year: 2007
Journal: PLoS Genet
Title: CTG trinucleotide repeat "big jumps": large expansions, small mice.
Volume: 3
Issue: 4
Pages: e52
Publication
First Author: Klinck R
Year: 2014
Journal: PLoS One
Title: RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.
Volume: 9
Issue: 9
Pages: e107324
Publication
First Author: Gladman JT
Year: 2015
Journal: Hum Mol Genet
Title: NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.
Volume: 24
Issue: 1
Pages: 251-64
Publication
First Author: Yadava RS
Year: 2008
Journal: Nat Genet
Title: RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
Volume: 40
Issue: 1
Pages: 61-8
Publication
First Author: Misra C
Year: 2020
Journal: Dev Cell
Title: Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.
Volume: 52
Issue: 6
Pages: 748-763.e6
Publication
First Author: Bargiela A
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models.
Volume: 116
Issue: 50
Pages: 25203-25213
Publication
First Author: Sicot G
Year: 2017
Journal: Cell Rep
Title: Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.
Volume: 19
Issue: 13
Pages: 2718-2729
Publication
First Author: Tomé S
Year: 2009
Journal: PLoS Genet
Title: MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.
Volume: 5
Issue: 5
Pages: e1000482
Publication
First Author: Gudde AE
Year: 2016
Journal: Hum Mol Genet
Title: A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle.
Volume: 25
Issue: 8
Pages: 1648-62
Publication
First Author: Seznec H
Year: 2000
Journal: Hum Mol Genet
Title: Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.
Volume: 9
Issue: 8
Pages: 1185-94
Publication
First Author: Miller JW
Year: 2000
Journal: EMBO J
Title: Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
Volume: 19
Issue: 17
Pages: 4439-48
Publication
First Author: Klesert TR
Year: 2000
Journal: Nat Genet
Title: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.
Volume: 25
Issue: 1
Pages: 105-9
Publication
First Author: Lee KY
Year: 2022
Journal: Hum Mol Genet
Title: Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.
Volume: 31
Issue: 18
Pages: 3144-3160
Publication
First Author: Gao Z
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy.
Volume: 110
Issue: 33
Pages: 13570-5
Publication
First Author: Suenaga K
Year: 2012
Journal: PLoS One
Title: Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain.
Volume: 7
Issue: 3
Pages: e33218
Publication
First Author: Lee MY
Year: 2017
Journal: PLoS One
Title: Serum response factor regulates smooth muscle contractility via myotonic dystrophy protein kinases and L-type calcium channels.
Volume: 12
Issue: 2
Pages: e0171262
Publication
First Author: Koshelev M
Year: 2010
Journal: Hum Mol Genet
Title: Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.
Volume: 19
Issue: 6
Pages: 1066-75
Publication
First Author: Brockhoff M
Year: 2017
Journal: J Clin Invest
Title: Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.
Volume: 127
Issue: 2
Pages: 549-563
Publication
First Author: Ravel-Chapuis A
Year: 2017
Journal: Hum Mol Genet
Title: Misregulation of calcium-handling proteins promotes hyperactivation of calcineurin-NFAT signaling in skeletal muscle of DM1 mice.
Volume: 26
Issue: 12
Pages: 2192-2206
Publication
First Author: Jenquin JR
Year: 2019
Journal: ACS Pharmacol Transl Sci
Title: Combination Treatment of Erythromycin and Furamidine Provides Additive and Synergistic Rescue of Mis-Splicing in Myotonic Dystrophy Type 1 Models.
Volume: 2
Issue: 4
Pages: 247-263
Publication
First Author: Ohsawa N
Year: 2015
Journal: Genes Cells
Title: ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.
Volume: 20
Issue: 2
Pages: 121-34
Publication
First Author: Bisset DR
Year: 2015
Journal: Hum Mol Genet
Title: Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.
Volume: 24
Issue: 17
Pages: 4971-83
Publication
First Author: Mahadevan MS
Year: 2006
Journal: Nat Genet
Title: Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.
Volume: 38
Issue: 9
Pages: 1066-70
Publication
First Author: Kimura T
Year: 2005
Journal: Hum Mol Genet
Title: Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
Volume: 14
Issue: 15
Pages: 2189-200
Publication
First Author: Yuan Y
Year: 2007
Journal: Nucleic Acids Res
Title: Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs.
Volume: 35
Issue: 16
Pages: 5474-86
Publication
First Author: Ferreboeuf M
Year: 2014
Journal: Hum Mol Genet
Title: Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.
Volume: 23
Issue: 15
Pages: 4125-33
Publication
First Author: Peng X
Year: 2015
Journal: Biochim Biophys Acta
Title: Celf1 regulates cell cycle and is partially responsible for defective myoblast differentiation in myotonic dystrophy RNA toxicity.
Volume: 1852
Issue: 7
Pages: 1490-7
Publication
First Author: Yadava RS
Year: 2019
Journal: Hum Mol Genet
Title: MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity.
Volume: 28
Issue: 14
Pages: 2330-2338
Publication
First Author: Dewald Z
Year: 2024
Journal: Nat Commun
Title: Altered drug metabolism and increased susceptibility to fatty liver disease in a mouse model of myotonic dystrophy.
Volume: 15
Issue: 1
Pages: 9062
Publication
First Author: Da Silva A
Year: 2023
Journal: Sci Adv
Title: N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Volume: 9
Issue: 26
Pages: eade6308
Publication
First Author: Lu X
Year: 1999
Journal: Hum Mol Genet
Title: Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy.
Volume: 8
Issue: 1
Pages: 53-60
Publication
First Author: Sarkar PS
Year: 2000
Journal: Nat Genet
Title: Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts.
Volume: 25
Issue: 1
Pages: 110-4
Publication
First Author: Moraes KC
Year: 2006
Journal: RNA
Title: CUG-BP binds to RNA substrates and recruits PARN deadenylase.
Volume: 12
Issue: 6
Pages: 1084-91
Publication
First Author: Timchenko LT
Year: 1996
Journal: Nucleic Acids Res
Title: Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.
Volume: 24
Issue: 22
Pages: 4407-14
Publication
First Author: Leroy O
Year: 2006
Journal: J Neurosci Res
Title: ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I.
Volume: 84
Issue: 4
Pages: 852-9
Publication
First Author: Timchenko NA
Year: 2001
Journal: J Biol Chem
Title: RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1.
Volume: 276
Issue: 11
Pages: 7820-6
Publication
First Author: Graindorge A
Year: 2008
Journal: Nucleic Acids Res
Title: Identification of CUG-BP1/EDEN-BP target mRNAs in Xenopus tropicalis.
Volume: 36
Issue: 6
Pages: 1861-70
Publication
First Author: Cosson B
Year: 2006
Journal: Biol Cell
Title: Oligomerization of EDEN-BP is required for specific mRNA deadenylation and binding.
Volume: 98
Issue: 11
Pages: 653-65
Publication
First Author: Anant S
Year: 2001
Journal: J Biol Chem
Title: Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor.
Volume: 276
Issue: 50
Pages: 47338-51
Publication
First Author: Ladd AN
Year: 2004
Journal: J Cell Sci
Title: Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events.
Volume: 117
Issue: Pt 16
Pages: 3519-29
Publication
First Author: Tanner MK
Year: 2021
Journal: Nucleic Acids Res
Title: Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy.
Volume: 49
Issue: 4
Pages: 2240-2254
Publication
First Author: Wang LH
Year: 2022
Journal: J Neurosci
Title: Calpain-2 Mediates MBNL2 Degradation and a Developmental RNA Processing Program in Neurodegeneration.
Volume: 42
Issue: 25
Pages: 5102-5114
Publication
First Author: Good PJ
Year: 2000
Journal: J Biol Chem
Title: A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator.
Volume: 275
Issue: 37
Pages: 28583-92
Publication
First Author: Kim G
Year: 2015
Journal: PLoS Genet
Title: Region-specific activation of oskar mRNA translation by inhibition of Bruno-mediated repression.
Volume: 11
Issue: 2
Pages: e1004992
Publication
First Author: Fueyo-González F
Year: 2022
Journal: Immunity
Title: Interferon-β acts directly on T cells to prolong allograft survival by enhancing regulatory T cell induction through Foxp3 acetylation.
Volume: 55
Issue: 3
Pages: 459-474.e7
Publication      
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME