Results 101 to 110 of about 42,113 (251)
The Landscape of SPP1+ Macrophages Across Tissues and Diseases: A Comprehensive Review
SPP1+ macrophages represent a conserved, disease‐associated population present across cancerous and non‐cancerous conditions, involved in immunosuppression, fibrosis, lipid metabolism, phagocytosis, and other cellular processes. This review highlights their shared molecular programmes across tissues, their interactions with stromal and immune cells ...
Alessandro Palma
wiley +1 more source
Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan+4 more
doaj
Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. [PDF]
R H Lindenbaum+4 more
openalex +1 more source
Genomic Screening Consortium for Australian Newborns (GenSCAN)
ABSTRACT Background Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging ...
Natalie Taylor+18 more
wiley +1 more source
Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique [PDF]
A. Moosa, Brian Brown, Victor Dubowitz
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Alternative Splicing Regulation in Metabolic Disorders
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley +1 more source
Elevation of transaminases. What if not the liver?
Background. According to Russian studies, the average age of Duchenne muscular dystrophy diagnosis is 7-8 years. This is because, on one hand, Duchenne muscular dystrophy is a rare disease, and a doctor may never see it throughout their clinical practice.
I. V. Sharkova
doaj +1 more source
A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy [PDF]
Adel K. Afifi+2 more
openalex +1 more source
Abstract Duchenne muscular dystrophy (DMD) is characterized by respiratory muscle injury and weakness, ultimately leading to respiratory failure. Impaired respiratory muscle performance, fibrosis and inflammation in early disease are evident in the dystrophin‐deficient mdx mouse model of DMD.
Michael N. Maxwell+3 more
wiley +1 more source
Further motor unit studies in Duchenne muscular dystrophy. [PDF]
Alan J. McComas+2 more
openalex +1 more source