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Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

Journal of neurology, 2022-05, Vol.269 (5), p.2784-2787

2022

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The impact of mechanical forces in heart morphogenesis

Circulation. Cardiovascular genetics, 2012-02, Vol.5 (1), p.132-142

2012

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α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Human molecular genetics, 2010-10, Vol.19 (20), p.4007-4016

2010

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Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Scientific reports, 2018-04, Vol.8 (1), p.5885-13, Article 5885

2018

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Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Genes to cells : devoted to molecular & cellular mechanisms, 2007-09, Vol.12 (9), p.1035-1048

2007

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Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Molecular and Cellular Biology, 2009-04, Vol.29 (8), p.2205-2218

2009

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Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

The Journal of biological chemistry, 2011-11, Vol.286 (44), p.38427-38438

2011

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T-box genes in human disorders

Human molecular genetics, 2003-04, Vol.12 (suppl-1), p.R37-R44

2003

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Human molecular genetics, 2016-06, Vol.25 (11), p.2331-2341

2016

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Mutation in myosin heavy chain 6 causes atrial septal defect

Nature genetics, 2005-04, Vol.37 (4), p.423-428

2005

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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Genome medicine, 2020-08, Vol.12 (1), p.76-13, Article 76

2020

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Alpha-cardiac actin mutations produce atrial septal defects

Human molecular genetics, 2008-01, Vol.17 (2), p.256-265

2008

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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Congenital heart disease, 2012-03, Vol.7 (2), p.151-159

2012

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Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Disease models & mechanisms, 2011-05, Vol.4 (3), p.381-392

2011

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Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Human genetics, 2006-11, Vol.120 (4), p.487-499

2006

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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Nature genetics, 2013-07, Vol.45 (7), p.822-824

2013

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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Human molecular genetics, 2014-03, Vol.23 (6), p.1551-1562

2014

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Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

PloS one, 2009-03, Vol.4 (3), p.e4978-e4978

2009

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

Nature (London), 1992-02, Vol.355 (6360), p.545-546

1992

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

Human molecular genetics, 2002-04, Vol.11 (7), p.805-814

2002

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Transcriptional Abnormality in Myotonic Dystrophy Affects DMPK but not Neighboring Genes

Proceedings of the National Academy of Sciences - PNAS, 1997-07, Vol.94 (14), p.7394-7399

1997

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In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Nucleic acids research, 2001-07, Vol.29 (13), p.2766-2771

2001

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Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

Circulation. Cardiovascular genetics, 2013-08, Vol.6 (4), p.347-353

2013

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Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

The impact of mechanical forces in heart morphogenesis

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

T-box genes in human disorders

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Mutation in myosin heavy chain 6 causes atrial septal defect

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Alpha-cardiac actin mutations produce atrial septal defects

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

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

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

Transcriptional Abnormality in Myotonic Dystrophy Affects DMPK but not Neighboring Genes

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

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