Results 91 to 100 of about 206,878 (242)

ZBED6 Knockout Promotes Skeletal Muscle Development in Bama Pigs by Relieving Transcriptional Repression of CDKN1A

Animal Research and One Health, EarlyView.
Integrated transcriptomic and functional analyses identify CDKN1A as a direct target of ZBED6 in Bama pigs. ZBED6 knockout relieves transcriptional repression of CDKN1A, thereby promoting myogenic differentiation and skeletal muscle development.
Yitian Ma, Xiu Lin, Pengtao Yuan, Yabin Pu, Yuehui Ma, Zixiao Jiang, Lin Jiang, Chongyang Li, Dandan Wang   +8 more
wiley   +1 more source

The congenital muscular dystrophies

Annals of the Child Neurology Society
Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life.
Haluk Topaloğlu, Bita Poorshiri
doaj   +1 more source

Special Issue—Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases

Molecules, 2015
Muscular dystrophies are a heterogeneous group of inherited diseases with different molecular basss, but sharing similar clinical features and dystrophic changes.
Leonidas A. Phylactou
doaj   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

Muscular dystrophies: key elements for everyday diagnosis and management

Cardiogenetics, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino, Gerardo Nigro, Luisa Politano   +2 more
doaj   +1 more source

Muscular dystrophies and Ayurveda [PDF]

Muscular dystrophies (MD) are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Becker Muscular Dystrophy (BMD) being a milder form of X-linked recessive dystrophy caused by a defect in the dystrophin gene.
Santosh N. Belavadi, Komal Gade
core   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Muscular dystrophies and other genetic myopathies

, 2018
Muscular dystrophies are a genetically and phenotypically heterogeneous group of progressive muscle diseases. Modern molecular genetic techniques have made it possible to clarify the genetic mutations responsible for most muscular dystrophies.
David Hilton-Jones, Stefen Brady
core   +1 more source

British National Formulary Guidance on prescribing in pregnancy: A descriptive cross‐sectional study

British Journal of Clinical Pharmacology, EarlyView.
Aim To assess how well pregnancy‐specific guidance within the British National Formulary supports healthcare professionals to facilitate safe and effective medication use. Methods We performed a manifest content analysis of the text of all pregnancy sections within British National Formulary drug monographs, with inductive and iterative coding.
Hannah Johnson, Cleodie Swire, Lakshiv Dhingra, Toqa El‐Nahhas, Michelle Essiam, Salma Muse, Maria Tonkova, Nazmin Begum, Joan Morris, Emma Baker   +9 more
wiley   +1 more source