Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

L Bello, EP Hoffman, E Pegoraro - Nature Reviews Neurology, 2023 - nature.com
… reviews genetic modifier studies in DMD to date and discusses the effect of genetic modifiers
on … (inclusion of genotype-stratified subgroup analyses) and therapeutic approaches. The …

[HTML][HTML] Genetic modifiers and phenotype of Duchenne muscular dystrophy: a systematic review and meta-analysis

C Pascual-Morena, I Cavero-Redondo, A Saz-Lara… - Pharmaceuticals, 2021 - mdpi.com
muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association
of genetic … ) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of …

[HTML][HTML] Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies

EP Hoffman - Acta Myologica, 2020 - ncbi.nlm.nih.gov
genetic modifiers in DMD suggests that the ‘effect size’ of the … Effect size of genetic modifiers
can be quantitated in DMD by … Genetic modifiers to date all show about 1-2 years change in …

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

L Bello, G D'Angelo, M Villa, A Fusto… - Annals of clinical …, 2020 - Wiley Online Library
genes different from DMD, that may influence the pathological consequences of dystrophin
… Here we aimed at describing the natural history of, and effect of GC treatment on respiratory …

[HTML][HTML] Genetic modifiers of Duchenne muscular dystrophy in Chinese patients

M Chen, L Wang, Y Li, Y Chen, H Zhang, Y Zhu… - Frontiers in …, 2020 - frontiersin.org
… of GCs treatment, which is worth further discussing considering GCs has … genetic modifier
of the long-term effect of GCs treatment in Chinese patients with Duchenne muscular dystrophy

[HTML][HTML] Mutation-based therapeutic strategies for Duchenne muscular dystrophy: from genetic diagnosis to therapy

A Nakamura - Journal of personalized medicine, 2019 - mdpi.com
… In this paper, I present the significance of molecular diagnosis and the development of
mutation-based therapeutic strategies to complement or restore dystrophin expression. …

A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene

DU Kemaladewi, PS Bassi, S Erwood, D Al-Basha… - Nature, 2019 - nature.com
… , structurally complex genes. Targeting compensatory modifier genes could be beneficial
to … a disease-modifying gene associated with congenital muscular dystrophy type 1A (MDC1A) …

[HTML][HTML] Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future

A Łoboda, J Dulak - Pharmacological Reports, 2020 - Springer
muscles lack dystrophin, efficient gene therapy should allow the expression of a new dystrophin
gene not only in limb muscles but … The estimation of how much dystrophin is required to …

[HTML][HTML] Innovative therapeutic approaches for Duchenne muscular dystrophy

F Fortunato, R Rossi, MS Falzarano… - Journal of Clinical …, 2021 - mdpi.com
… reported that dystrophin is a tumor suppressor gene and likely … that therapeutic approaches
developed for muscular dystrophiesmodifiers, as well as setting up in vitro protocols of gene

[HTML][HTML] The “usual suspects”: genes for inflammation, fibrosis, regeneration, and muscle strength modify Duchenne muscular dystrophy

L Bello, E Pegoraro - Journal of Clinical Medicine, 2019 - mdpi.com
genetic loci that are associated with a modifier effect on the phenotype of human Duchenne
muscular dystrophy (… These “trans-active” genetic modifiers are the main focus of the present …