Results 71 to 80 of about 78,813 (265)

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

Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Molecular Therapy: Nucleic Acids, 2018
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 ...
Jason D. Tucker, Pei J. Lu, Xiao Xiao, Qi L. Lu   +3 more
doaj   +1 more source

Refining Shoulder Diagnostics: A Technical Note on Scapular Physical Examination

Arthroscopy Techniques, EarlyView.
Abstract Normal scapulothoracic function relies on a delicate balance among several periscapular muscles and is essential for shoulder motion. Disturbance in this balance can lead to abnormal motion, which can impair shoulder function, leading to pain and discomfort.
Farah Selman, Nicholas Peter James Perry, Diego J. Restrepo, David Coleman, Joaquin Sanchez‐Sotelo   +4 more
wiley   +1 more source

State-of-the-art Advances in Duchenne Muscular Dystrophy

European Medical Journal, 2017
Duchenne muscular dystrophy (DMD) is a severe and fatal muscle condition affecting young children. Without interventions, affected boys lose the ability to walk independently by the age of 10 and develop progressive cardiac and respiratory failure.
Henriette Van Ruiten, Katherine Bushby, Michela Guglieri   +2 more
doaj  

Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy

Cell Death and Disease
The degeneration of the muscle in muscle dystrophies involves complex interactions among the different cell types. Here, we have used datasets from single-nuclei RNA sequencing (snRNAseq) of Duchenne Muscular Dystrophy (DMD) muscle samples to study the ...
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón Azcón, Juan M. Fernández-Costa, Jordi Diaz-Manera   +9 more
doaj   +1 more source

Defining and Measuring Developmental Regression During Childhood: A Scoping Review

Autism Research, EarlyView.
ABSTRACT Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was applied to Medline, Embase, Cochrane, and PsycINFO databases.
Kirsten Furley, Jenny Fairthorne, Vishnu Priya Mohanakumar Sindhu, Katrina Williams, Amanda Brignell   +4 more
wiley   +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

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

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

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source