RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.

scientific article

RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1074/JBC.M114.621607
P8608Fatcat IDrelease_hfii2isvwneo3m6b7dyr7jn4ia
P932PMC publication ID4358235
P698PubMed publication ID25593321

P50authorJoel M. GottesfeldQ42410767
Sanjay V PatelQ51476638
Krishna R KalariQ57034862
Xiaojia TangQ58198362
P2093author name stringElisabetta Soragni
Jean-Pierre Kocher
Ross A Aleff
Eric D Wieben
Keith H Baratz
Jaime Davila
Jinfu Nie
Jintang Du
P2860cites workThe RIN: an RNA integrity number for assigning integrity values to RNA measurementsQ21263010
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSQ24633692
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophyQ24679378
An EMT-driven alternative splicing program occurs in human breast cancer and modulates cellular phenotypeQ27339197
Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelopeQ28186267
A muscleblind knockout model for myotonic dystrophyQ28592365
E2-2 protein and Fuchs's corneal dystrophyQ28943409
Snail, Zeb and bHLH factors in tumour progression: an alliance against the epithelial phenotype?Q29547559
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratioQ30440927
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophyQ30441256
QUANTIFYING ALTERNATIVE SPLICING FROM PAIRED-END RNA-SEQUENCING DATAQ30577352
Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brainQ31051469
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.Q33571775
Liprin (beta)1 is highly expressed in lymphatic vasculature and is important for lymphatic vessel integrityQ33627007
Splicing biomarkers of disease severity in myotonic dystrophyQ33904051
Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.Q33971308
Outcomes of cataract surgery in eyes with a low corneal endothelial cell densityQ34015895
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.Q34094021
RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1Q34166166
RNA-protein interactions in unstable microsatellite diseases.Q34243144
Evidence of oxidative stress in the pathogenesis of fuchs endothelial corneal dystrophy.Q34254400
Genetics of the corneal endothelial dystrophies: an evidence-based reviewQ34344006
Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFβ3.Q34367334
Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.Q34473863
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophyQ34489856
Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disordersQ34543709
Analysis and design of RNA sequencing experiments for identifying isoform regulationQ34565989
Autoregulated splicing of muscleblind-like 1 (MBNL1) Pre-mRNA.Q35310396
Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteinsQ36193050
Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1.Q36484500
RBFOX2 is an important regulator of mesenchymal tissue-specific splicing in both normal and cancer tissues.Q36559726
The genetics of Fuchs' corneal dystrophyQ36754678
Abundant expression of ponsin, a focal adhesion protein, in lens and downregulation of its expression by impaired cytoskeletal signalingQ37275818
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophyQ37430218
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndromeQ37580522
Complex changes in alternative pre-mRNA splicing play a central role in the epithelial-to-mesenchymal transition (EMT).Q38006770
Phacopower modulation and the risk for postoperative corneal decompensation: a randomized clinical trial.Q38444642
The class I bHLH factors E2-2A and E2-2B regulate EMT.Q39871514
Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domainQ40376872
Corneal endothelial dystrophy. A study of 64 familiesQ40694995
Somatic instability of CTG repeat in myotonic dystrophyQ41510869
Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells.Q42097627
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promiseQ42235812
Neuroligin 1 induces blood vessel maturation by cooperating with the α6 integrinQ42732436
Fuchs endothelial corneal dystrophy: a neurodegenerative disorder?Q43142942
Rho-associated kinase inhibitor eye drop treatment as a possible medical treatment for Fuchs corneal dystrophyQ44006312
Oxidative stress causes DNA triplet expansion in Huntington's disease mouse embryonic stem cellsQ45295058
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophyQ47886887
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophyQ74441599
Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2Q75186004
P4510describes a project that useslimmaQ112236343
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectendotheliumQ111140
RNA sequencingQ2542347
eye diseaseQ3041498
P304page(s)5979-5990
P577publication date2015-01-15
P1433published inJournal of Biological ChemistryQ867727
P1476titleRNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy
P478volume290

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