Results 121 to 130 of about 73,251 (284)
Introduction The goals of this paper are to present the complexity of Duchenne muscular dystrophy phenotype, genetic background, and substantial progress that has been made due to the development of genetic engineering techniques in diagnosing and ...
Anna Teresa Michalska +9 more
doaj +1 more source
We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation.
Lee D. Murphy +2 more
doaj +1 more source
Clinical molecular genetics in the UK c.1975-c.2000 [PDF]
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core
Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying +8 more
wiley +1 more source
Perindopril preserves left ventricular function in X-linked Duchenne muscular dystrophy [PDF]
Denis Duboc +8 more
openalex +1 more source
Fibronectin regulates the extracellular matrix (ECM)–myofibroblast cycle through three key steps: (1) its secretion and assembly by myofibroblasts (inhibited by pUR4); (2) collagen deposition along its scaffold (inhibited by R1R2); and (3) integrin α5β1‐mediated mechanotransduction (inhibited by ATN161).
Wenlong Ma +10 more
wiley +1 more source
Gene Therapies for Duchenne Muscular Dystrophy [PDF]
STEP Category: Undergraduate ResearchI spent the summer doing research in Dr. Paul Martin’s lab in the Center for Gene Therapy. While I worked on multiple projects, I spend most of my time on our canine gene therapy for Duchenne Muscular Dystrophy ...
Hamilton, Sonia
core
256. An Ideal Therapeutic Agent for Duchenne Muscular Dystrophy Involving a Gutted Adenovirus Expressing Full-Length Utrophin [PDF]
openalex +1 more source
ABSTRACT Three categories of explanations exist for why we age: mechanistic theories, which omit reference to evolutionary forces; weakening force of selection theories, which posit that barriers exist that prevent evolutionary forces from optimising fitness in ageing; and optimisation theories, which posit that evolutionary forces actually select for ...
Michael S. Ringel
wiley +1 more source
The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association ...
Xi-hua LI
doaj

