Results 81 to 90 of about 198,582 (348)
The Plant Genome, Volume 15, Issue 4, December 2022., 2022 Abstract The growing demand for food and feed crops in the world because of growing population and more extreme weather events requires high‐yielding and resilient crops. Many agriculturally important traits are polygenic, controlled by multiple regulatory layers, and with a strong interaction with the environment.
Marta Malinowska +12 more
wiley +1 more source
The Relationship between Moderate to Vigorous Physical Activity and Metabolic Syndrome: A Bayesian Measurement Error Approach [PDF]
arXiv, 2023 Metabolic Syndrome (MetS) is a serious condition that can be an early warning sign of heart disease and Type 2 diabetes. MetS is characterized by having elevated levels of blood pressure, cholesterol, waist circumference, and fasting glucose. There are many articles in the literature exploring the relationship between physical activity and MetS, but ...
arxiv
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
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
Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.
Annals of Translational Medicine, 2018 Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated ...
Marisha G Agana +4 more
semanticscholar +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
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
, 2013 For many physicians the inborn errors of metabolism represent a somewhat esoteric group, unlikely to be encountered in clinical practice. Many more diseases have been added to the list of “inborn errors” in the last few years and these diseases can no ...
Higgins, M.
core +2 more sources
Human Mutation, 2018 The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.
Diane B. Zastrow +22 more
semanticscholar +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