Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms (Q34466715)

2 August 2017

title

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms (English)

1 reference

2 August 2017

0 references

Michael C Fishbein

1 reference

2 August 2017

Donald M Dixon

1 reference

2 August 2017

Jongkyu Choi

1 reference

2 August 2017

Ayea El-Ghazali

1 reference

2 August 2017

Sun Young Park

1 reference

2 August 2017

Kenneth P Roos

1 reference

2 August 2017

Maria C Jordan

1 reference

2 August 2017

Lucio Comai

1 reference

2 August 2017

Sita Reddy

1 reference

2 August 2017

language of work or name

English

0 references

publication date

12 March 2015

1 reference

2 August 2017

1 reference

2 August 2017

1 reference

2 August 2017

page(s)

9042

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

start time

12 March 2015

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

Compound loss of muscleblind-like function in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Prolonged Corrected QT Interval in Patients with Myotonic Dystrophy Type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

The alternative heart: impact of alternative splicing in heart disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Sequencing of mRNA identifies re-expression of fetal splice variants in cardiac hypertrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Inherited calcium channelopathies in the pathophysiology of arrhythmias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Stress- and Rho-activated ZO-1-associated nucleic acid binding protein binding to p21 mRNA mediates stabilization, translation, and cell survival

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Superhelical architecture of the myosin filament-linking protein myomesin with unusual elastic properties

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Cardiac manifestations of myotonic dystrophy type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Myocardial Function With Reduced Expression of the Sodium-Calcium Exchanger

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Phosphorylation of CLK2 at Serine 34 and Threonine 127 by AKT Controls Cell Survival after Ionizing Radiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Heart failure-associated changes in RNA splicing of sarcomere genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Junctin and the histidine-rich Ca2+ binding protein: potential roles in heart failure and arrhythmogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

SIRT2 is a negative regulator of anoxia-reoxygenation tolerance via regulation of 14-3-3 zeta and BAD in H9c2 cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Alternative splicing of Nav1.5: an electrophysiological comparison of 'neonatal' and 'adult' isoforms and critical involvement of a lysine residue.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Distinct expression and function of alternatively spliced Tbx5 isoforms in cell growth and differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

"Z"eroing in on the role of Cypher in striated muscle function, signaling, and human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

FBXO40, a gene encoding a novel muscle-specific F-box protein, is upregulated in denervation-related muscle atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Multiple functions of junctin and junctate, two distinct isoforms of aspartyl beta-hydroxylase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

On the role of junctin in cardiac Ca2+ handling, contractility, and heart failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Calpain 3: a key regulator of the sarcomere?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

The genetic basis for cardiac remodeling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Regulation of apoptosis by alternative pre-mRNA splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Myomesin is a molecular spring with adaptable elasticity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Study of the mechanical properties of myomesin proteins using dynamic force spectroscopy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

A muscleblind knockout model for myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Protamine-Cre recombinase transgenes efficiently recombine target sequences in the male germ line of mice, but not in embryonic stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Mortality by cause for eight regions of the world: Global Burden of Disease Study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Cardiac disease in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Severe congestive heart failure and cardiomyopathy as a complication of myotonic dystrophy in pregnancy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Cardiac involvement in congenital myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Myotonic heart disease: a clinical follow-up

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion

6 July 2018

1 reference

Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus.

21 January 2018

1 reference

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

21 January 2018

1 reference

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

21 January 2018

1 reference

Developmental control of titin isoform expression and passive stiffness in fetal and neonatal myocardium

21 January 2018

1 reference

Progressive atrioventricular conduction block in a mouse myotonic dystrophy model.

21 January 2018

1 reference

Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene.

21 January 2018

1 reference

Duration of QRS complex in resting electrocardiogram is a predictor of sudden cardiac death in men.

21 January 2018

1 reference

The role of a common TNNT2 polymorphism in cardiac hypertrophy

21 January 2018

1 reference

Comparing isoflurane with tribromoethanol anesthesia for echocardiographic phenotyping of transgenic mice.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4356957

Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

27 October 2018

1 reference

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

21 January 2018

1 reference

12 December 2020

Overexpression of junctate induces cardiac hypertrophy and arrhythmia via altered calcium handling

1 reference

12 December 2020

Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle

1 reference

12 December 2020

Sarcoplasmic reticulum calcium overloading in junctin deficiency enhances cardiac contractility but increases ventricular automaticity

1 reference

12 December 2020

Profound cardiac conduction delay predicts mortality in myotonic dystrophy type 1

1 reference

12 December 2020

Cardiac involvement in myotonic dystrophy

1 reference

12 December 2020

Prevalence of heart failure and left ventricular dysfunction in the general population; The Rotterdam Study

1 reference

12 December 2020

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1

1 reference

12 December 2020

Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1

1 reference

12 December 2020

Localization of the sites of conduction abnormalities in a mouse model of myotonic dystrophy

1 reference

12 December 2020

Nuclear RNA foci in the heart in myotonic dystrophy

1 reference

12 December 2020

AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Comm

1 reference

12 December 2020

Identifiers

DOI

10.1038/SREP09042

1 reference

Dimensions Publication ID

2 August 2017

1008989189

0 references

Fatcat ID

release_fjc7uji4cvc5hdca3imfcgncji

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fjc7uji4cvc5hdca3imfcgncji

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4356957

1 reference

2 August 2017

1 reference