Results 71 to 80 of about 3,216 (202)
Becker congenital myotonia in black African with molecular findings
Egyptian Journal of Medical Human Genetics, 2022 Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin +6 more
doaj +1 more source
Advancing Precision Nutrition Through Multimodal Data and Artificial Intelligence
Advanced Science, Volume 13, Issue 17, 23 March 2026.Individual responses to food vary dramatically, challenging traditional dietary advice. This review explores how the unique genetic makeup, gut microbiome, and brain activity shape host metabolic health. We examine how artificial intelligence integrates these multimodal data to predict individualized dietary needs, moving beyond one‐size‐fits‐all ...
Yuanqing Fu +5 more
wiley +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Molecular Oncology, Volume 20, Issue 2, Page 282-306, February 2026.This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan +9 more
wiley +1 more source
Chloride Channels in Amyotrophic Lateral Sclerosis
Acta Medica BulgaricaIn amyotrophic lateral sclerosis (ALS), human postmortem transcriptomics reveals a consistent shift, with downregulation of neuronal genes and upregulation of glial and inflammatory programs. This establishes a framework where inhibitory synapses and ion
Tourtourikov I., Mitev V., Todorova A.
doaj +1 more source
Genomic analysis reveals extensive gene duplication within the bovine TRB locus [PDF]
, 2009 Background Diverse TR and IG repertoires are generated by V(D)J somatic recombination. Genomic studies have been pivotal in cataloguing the V, D, J and C genes present in the various TR/IG loci and describing how duplication events have expanded the ...
Timothy Connelley +3 more
core +2 more sources
Human Mutation, 2015 Mutations in the gene coding for the skeletal muscle Cl(-) channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed with myotonic dystrophy type 1 but who were negative for DM1 mutations.
VindasSmith R +9 more
openaire +5 more sources
Functional Classification of Skeletal Muscle Networks. I. Normal Physiology [PDF]
, 2012 Extensive measurements of the parts list of human skeletal muscle through transcriptomics and other phenotypic assays offer the opportunity to reconstruct detailed functional models.
Subramaniam, Shankar +2 more
core +2 more sources
Inhibition of skeletal muscle CLC-1 chloride channels by low intracellular pH and ATP [PDF]
, 2007 Skeletal muscle acidosis during exercise has long been thought to be a cause of fatigue, but recent studies have shown that acidosis maintains muscle excitability and opposes fatigue by decreasing the sarcolemmal chloride conductance.
Bennetts, B, Cromer, B, Parker, M
core +1 more source
Physiological Reports, Volume 14, Issue 1, January 2026.Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri +8 more
wiley +1 more source