Results 81 to 90 of about 13,537,879 (292)

Duchenne muscular dystrophy and brain function [PDF]

, 2012
Muscular dystrophies have historically been characterised according to clinical criteria, however in the genomic age the muscular dystrophies are now subdivided into groups according to the primary gene defect.
Morley, John W. (R12018), Anderson, Jennifer L., Head, Stewart I. (R14226)   +2 more
core   +2 more sources

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Neutralization of the PTX3/CD44 axis suppresses TGF‐β1 signaling in kidney fibrosis

FEBS Letters, EarlyView.
This study investigates how the PTX3/CD44 axis promotes kidney fibrosis by activating TGF‐β1 signaling. We demonstrate that the neutralizing antibody WHC‐001 effectively inhibits this pathway, suppressing myofibroblast activation and partial epithelial–mesenchymal transition (EMT).
Chao‐Chun Cheng, Shen‐Shin Chang, Feng‐Wei Chen, Ying‐Chieh Su, Thanh Phuong Nguyen, Yu‐Wei Hsiao, Jhih‐Ying Chi, Hsin‐Yin Liang, Ju‐Ming Wang   +8 more
wiley   +1 more source

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Orphanet Journal of Rare Diseases
Background Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability.
Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano   +2 more
doaj   +1 more source

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

Journal of Neuromuscular Diseases, 2018
Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
J. Glascock, J. Sampson, Amanda M. Haidet-Phillips, A. Connolly, B. Darras, J. Day, R. Finkel, R. Howell, Katherine W. Klinger, N. Kuntz, T. Prior, P. Shieh, Thomas O. Crawford, D. Kerr, J. Jarecki   +14 more
semanticscholar   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Neuro - Muscular Disease Treatment

, 2023
A review of neuro-muscular diseases that produce Neuro-ophthalmic symptoms and then a discussion of the treatment options along with an algorithm for treatment of ocular myasthenia gravis.IC-E10dii-myasthenia ...
Wayne T. Cornblath, MD
core   +2 more sources

A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression

Cell, 2017
Summary Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibro-muscular dysplasia, and hypertension.
Rajat M. Gupta, J. Hadaya, Aditi Trehan, S. Zekavat, C. Roselli, D. Klarin, C. Emdin, Catharina R. E. Hilvering, V. Bianchi, Christian Mueller, A. Khera, Russell J. H. Ryan, Jesse M. Engreitz, Robbyn Issner, N. Shoresh, C. Epstein, W. de Laat, Jonathan D. Brown, R. Schnabel, B. Bernstein, S. Kathiresan   +20 more
semanticscholar   +1 more source

Circulating microRNA signatures of cachexia and cancer in Canis familiaris as a comparative oncology model for human disease

Molecular Oncology, EarlyView.
Circulating microRNAs as biomarkers of cachexia and sex‐specific cancer in senior dogs. In 25 client‐owned dogs, four circulating miRNAs (miR‐15a, miR‐15b, miR‐16, miR‐140) were downregulated in cachexia, with miR‐16 the strongest individual biomarker (AUC = 0.899).
Soon‐Seok Park, Kyongman An, Gyeonghwa Kim, Soo‐Nyun Choi, Hong‐Ki Lee, Keun Hur, Kyu‐Shik Jeong   +6 more
wiley   +1 more source

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

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