Results 71 to 80 of about 840,189 (237)

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity Kate, Boardman, Felicity K.   +2 more
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

Splicing therapeutics in SMN2 and APOB [PDF]

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

Pyramidal signs in a Caucasian patient with spinal muscular atrophy: a case report [PDF]

, 2016
Spinal muscular atrophy (SMA), an autosomal recessive disease, is characterized by the selective loss of spinal motor neurons due to reduced levels of the survival motor neuron (SMN) protein.
Jun Zhang, Wan, Yu, Zhang, Jun, Yu Wan
core   +1 more source

Neurovascular coupling in bone regeneration: Mechanisms, advanced biomaterials and challenges

BMEMat, EarlyView.
This figure illustrates various material strategies for neurovascularized bone regeneration, including electroactive scaffolds, ion‐loaded materials, drug delivery systems, surface modifications, cells/cell products, growth factors, and peptides. These approaches aim to synergistically promote the regeneration of neural, vascular, and bone tissues ...
Yixin Ma, Nan Jiang, Liyuan Chen, He Zhang, Xinjia Cai, Karan Gulati, Danqing He, Zhigang Cai, Yan Liu   +8 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

Clinical research advance of therapeutic strategies for spinal muscular atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy caused by degeneration of brain stem and spinal cord motor neurons. SMA is common genetic neuromuscular disorder that
Jing LI, Cheng ZHANG
doaj  

Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion

Chemistry – A European Journal, EarlyView.
An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang, Nemanja Djokovic, Alexander Herr, Anna Wacker, Emily Swanson Hay, Daniel Santana, Amanda E. Hargrove, Harald Schwalbe, Katarina Nikolic, Frank Abendroth, Olalla Vázquez   +10 more
wiley   +1 more source

Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]

, 2006
We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
core  

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source