Results 91 to 100 of about 2,734,131 (399)
Targeting miRNA‐1a and miRNA‐15b: A Novel Combinatorial Strategy to Drive Adult Cardiac Regeneration
Advanced Science, EarlyView.The article explores a novel therapeutic strategy for cardiac regeneration by targeting miRNA‐1a and miRNA‐15b. Combinatorial inhibition of miR‐1a and miR‐15b enhances cardiomyocyte proliferation, improves heart function, and reduces fibrosis in myocardial infarction models.
Ting Yuan +16 more
wiley +1 more source
Inborn errors of metabolism [PDF]
Encyclopedia of Autism Spectrum Disorders, 2018 Jessica L. Roesser
semanticscholar +4 more sources
Dialogues in Clinical Neuroscience, 2018 Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of ...
J. Saudubray, A. Garcia-Cazorla
semanticscholar +1 more source
Volume XCIII, Number 15, February 22, 1974 [PDF]
, 1974 11th International Conference of Inborn Errors of Metabolism -- AUG 29-SEP 02, 2009 -- San Diego, CAWOS ...
Coker, M. +3 more
core +1 more source
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
wiley +1 more source
Fast Reconstruction of Compact Context-Specific Metabolic Network Models [PDF]
, 2013 Systemic approaches to the study of a biological cell or tissue rely increasingly on the use of context-specific metabolic network models. The reconstruction of such a model from high-throughput data can routinely involve large numbers of tests under different conditions and extensive parameter tuning, which calls for fast algorithms.
arxiv +1 more source
Circulation Research, 2017 The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function.
J. Towbin, J. Jefferies
semanticscholar +1 more source
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
doaj +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
doaj +1 more source
Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty +5 more
doaj