Results 51 to 60 of about 23,636 (243)

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. [PDF]

Journal of Clinical Investigation, 1995
We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness. Dystrophin expression was present in the muscle of affected males and transcription studies indicated that this dystrophin ...
MUNTONI F, WILSON L, MARROSU G, MARROSU MG, CIANCHETTI C, MESTRONI L, GANAU, Antonello, DUBOWITZ V, SEWRY C.   +8 more
openaire   +3 more sources

Delivery of A Chemically Modified Noncoding RNA Domain Improves Dystrophic Myotube Function

Advanced Science, EarlyView.
CYTOR is a pro‐myogenic ncRNA in skeletal muscle. Here, chemical probing of CYTOR, coupled with functional cellular assays identifies exon 2 as an independent myogenic RNA domain. Chemical engineering of CYTOR exon 2 RNA improves pharmacologic properties, including RNA stability and cell‐autonomous immunogenicity.
Zeinabou Niasse‐Sy, Bo Zhao, Ajda Lenardič, Huyen Thuc Tran Luong, Ori Bar‐Nur, Johan Auwerx, Martin Wohlwend   +6 more
wiley   +1 more source

ALKBH3‐Mediated M1A Demethylation of METTL3 Endows Pathological Fibrosis:Interplay Between M1A and M6A RNA Methylation

Advanced Science, EarlyView.
RNA modification is crucial in fibrosis diseases, but the role of m1A modification remains elusive. This study reveals that ALKBH3, an m1A demethylase, drives skin fibrosis by reshaping m6A RNA modification and stabilizing COL1A1 and FN1 mRNAs through METTL3, uncovering a crosstalk between m1A and m6A methylation in pathological events.
Liying Tu, Shuchen Gu, Ruoqing Xu, En Yang, Xin Huang, Hsin Liang, Shenying Luo, Haizhou Li, Yixuan Zhao, Tao Zan   +9 more
wiley   +1 more source

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

Orphanet Journal of Rare Diseases, 2012
Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several ...
Nicolas Aurélie, Lucchetti-Miganeh Céline, Yaou Rabah, Kaplan Jean-Claude, Chelly Jamel, Leturcq France, Barloy-Hubler Frédérique, Le Rumeur Elisabeth   +7 more
doaj   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, EarlyView.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy

Molecular Therapy: Nucleic Acids, 2022
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function.
Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan   +12 more
doaj  

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

Cell Reports, 2015
The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo, Christopher R. Heier, James S. Novak, Christopher B. Tully, Kristy J. Brown, Kitipong Uaesoontrachoon, Maria C. Vila, Peter P. Ngheim, Luca Bello, Joe N. Kornegay, Corrado Angelini, Terence A. Partridge, Kanneboyina Nagaraju, Eric P. Hoffman   +13 more
doaj   +1 more source

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic

ESC Heart Failure, EarlyView.
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan, Luke R. Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y.M. Chan, D. Ian Paterson, Finlay A. McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y. Oudit   +12 more
wiley   +1 more source

Dystrophins and dystrobrevins.

Genome biology, 2001
A unique arrangement of domains makes up the common region of two otherwise very different proteins - long, elegant dystrophin, and its rather dumpy distant cousin, dystrobrevin. The two work in concert, forming the core of a large membrane-bound complex in all metazoa.
openaire   +3 more sources

Advance and cogitation of gene therapy for Duchenne muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Duchenne muscular dystrophy (DMD) is the common hereditary muscular disease caused by the deficiency of cytoskeletal protein dystrophin on the sarcolemma.
Cheng ZHANG, Jin-fu LIN, Zi-yu LIAO
doaj