Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies

DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury

(2020) Tatyana A Meyers et al.   HUMAN MOLECULAR GENETICS

Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies

(2020) Nguyen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing

(2020) May Ling Mah et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients

(2019) Binyamin Eisen et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy

(2019) Maaike van Putten et al.   FASEB JOURNAL

Life-Long AAV-Mediated CRISPR Genome Editing in Dystrophic Heart Improves Cardiomyopathy without Causing Serious Lesions in mdx Mice

(2019) Li Xu et al.   MOLECULAR THERAPY

Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases

(2019) Maria K. Tsoumpra et al.   EBioMedicine

Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology

(2019) Tirsa L.E. Westering et al.   Journal of Cachexia Sarcopenia and Muscle

Muscle, cardiac, and cerebral manifestations in female carriers of dystrophin variants

(2018) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Female dystrophinopathy: Review of current literature

(2018) Masatoshi Ishizaki et al.   NEUROMUSCULAR DISORDERS

Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing

(2018) Chengzu Long et al.   Science Advances

Uniform low-level dystrophin expression in the heart partially preserved cardiac function in an aged mouse model of Duchenne cardiomyopathy

(2017) Nalinda B. Wasala et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Effects of systemic multiexon skipping with peptide-conjugated morpholinos in the heart of a dog model of Duchenne muscular dystrophy

(2017) Yusuke Echigoya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

(2017) Yuko Miyagoe-Suzuki et al.   Stem Cells International

Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy

(2016) Emanuela Viggiano et al.   HUMAN GENETICS

Dystrophin-Deficient Cardiomyopathy

(2016) Forum Kamdar et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

(2016) Riccardo Papa et al.   PEDIATRIC NEUROLOGY

Small Fractions of Muscular Dystrophy Embryonic Stem Cells Yield Severe Cardiac and Skeletal Muscle Defects in Adult Mouse Chimeras

(2016) J. Patrick Gonzalez et al.   STEM CELLS

Modifier genes and their effect on Duchenne muscular dystrophy

(2015) Andy H. Vo et al.   CURRENT OPINION IN NEUROLOGY

Prevention of exercised induced cardiomyopathy following Pip-PMO treatment in dystrophic mdx mice

(2015) Corinne A. Betts et al.   Scientific Reports

Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study

(2015) Anca Florian et al.   European Heart Journal-Cardiovascular Imaging

Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells

(2015) Tahsin Stefan Barakat et al.   Stem Cell Reports

Low dystrophin levels in heart can delay heart failure in mdx mice

(2014) Maaike van Putten et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Subcellular Localization of Dystrophin Isoforms in Cardiomyocytes and Phenotypic Analysis of Dystrophin-deficient Mice Reveal Cardiac Myopathy is Predominantly Caused by a Deficiency in Full-length Dystrophin

(2013) Nami Masubuchi et al.   EXPERIMENTAL ANIMALS

Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice

(2013) Maaike van Putten et al.   FASEB JOURNAL

All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy

(2013) Gernot Schram et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization

(2013) Florencia Giliberto et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Erosion of Dosage Compensation Impacts Human iPSC Disease Modeling

(2012) Shila Mekhoubad et al.   Cell Stem Cell

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

(2012) Aurélie Nicolas et al.   Orphanet Journal of Rare Diseases

The Effects of Low Levels of Dystrophin on Mouse Muscle Function and Pathology

(2012) Maaike van Putten et al.   PLoS One

Cardiac structure and function in female carriers of a canine model of Duchenne muscular dystrophy

(2012) A.M. Kane et al.   RESEARCH IN VETERINARY SCIENCE

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

X-Chromosome Inactivation in Rett Syndrome Human Induced Pluripotent Stem Cells

(2012) Aaron Y. L. Cheung et al.   Frontiers in Psychiatry

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy

(2011) Hugo R. Martinez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Calcium controls cardiac function - by all means!

(2011) Ole M. Sejersted   JOURNAL OF PHYSIOLOGY-LONDON

Female Human iPSCs Retain an Inactive X Chromosome

(2010) Jason Tchieu et al.   Cell Stem Cell

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy

(2010) Mieko Yoshioka et al.   CLINICAL GENETICS

Gender influences cardiac function in the mdx model of duchenne cardiomyopathy

(2010) Brian Bostick et al.   MUSCLE & NERVE

Clinical and genetic characterization of manifesting carriers of DMD mutations

(2010) Payam Soltanzadeh et al.   NEUROMUSCULAR DISORDERS

Marginal Level Dystrophin Expression Improves Clinical Outcome in a Strain of Dystrophin/Utrophin Double Knockout Mice

(2010) Dejia Li et al.   PLoS One

Duchenne Muscular Dystrophy in a Female Patient with a Karyotype of 46,X,i(X)(q10)

(2010) Zhanhui Ou et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Homozygous female Becker muscular dystrophy

(2009) Katsunori Fujii et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long-term improvement in mdx cardiomyopathy after therapy with peptide-conjugated morpholino oligomers†

(2009) Natee Jearawiriyapaisarn et al.   CARDIOVASCULAR RESEARCH

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Blastocyst Injection of Wild Type Embryonic Stem Cells Induces Global Corrections in Mdx Mice

(2009) Elizabeth Stillwell et al.   PLoS One

Update on the management of Duchenne muscular dystrophy

(2008) A Y Manzur et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Cardiac involvement in a female carrier of Duchenne muscular dystrophy

(2008) Thomas Walcher et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Sustained Dystrophin Expression Induced by Peptide-conjugated Morpholino Oligomers in the Muscles of mdx Mice

(2008) Natee Jearawiriyapaisarn et al.   MOLECULAR THERAPY

L-Type Ca2+ Channel Function Is Linked to Dystrophin Expression in Mammalian Muscle

(2008) Oliver Friedrich et al.   PLoS One

Prevention of Dystrophin-Deficient Cardiomyopathy in Twenty-One-Month-Old Carrier Mice by Mosaic Dystrophin Expression or Complementary Dystrophin/Utrophin Expression

(2007) Brian Bostick et al.   CIRCULATION RESEARCH