Results 41 to 50 of about 71,938 (313)

Prenatal genetic counselors' attitudes, beliefs, and practices with discussing postnatal Duchenne muscular dystrophy treatment options. [PDF]

J Genet Couns
Abstract Duchenne muscular dystrophy (DMD) is an X‐linked genetic condition characterized by progressive muscle degeneration. Recently, several genotype‐specific treatment options for DMD have become available. Prenatal genetic counselors may encounter at‐risk patients for DMD, through a variety of indications.
Jurlina SL, Gorman N, Palmer CGS, Araujo RL.   +3 more
europepmc   +2 more sources

Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy

Cells, 2018
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic, Martina Culenova, Maria Csobonyeiova   +2 more
doaj   +1 more source

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster   +4 more
doaj   +1 more source

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]

, 2016
Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene, Briganti, F, LEGNINI, IVANO, MARTONE, Julie, MORLANDO, MARIANGELA, Picillo, E, Politano, L, STHANDIER, Olga Elena   +7 more
core   +2 more sources

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Pharmaceuticals, 2015
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj   +1 more source

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

Dual‐Functional Polyphosphoesters for Gene Delivery: Synergistic Effects of Guanidinium and Hydrophobic Side Chains in Degradable Polymers

Advanced Healthcare Materials, EarlyView.
This study presents guanidinium‐ and indole‐functionalized polyphosphoesters as degradable, non‐viral gene delivery vectors. Through precise tuning of charge density and hydrophobicity, these polymers form stable polyplexes with low toxicity. Remarkably, minor structural changes yield up to 200‐fold differences in transfection efficiency, highlighting ...
Markus Kötzsche, Andreas Dzierza, Jan Egger, Timo Rheinberger, Christin Weilandt, Frederik R. Wurm, Ivo Nischang, Dagmar Fischer, Kalina Peneva   +8 more
wiley   +1 more source