Results 101 to 110 of about 36,538 (290)
AbstractWe present a framework to quantify the prior probability of observing known disease-causing variants across all genes and inheritance modes. First, we computed genome-wide occurrence probabilities by integrating population allele frequencies, variant classifications, and Hardy-Weinberg expectations under autosomal dominant, recessive, and X ...
Quant Group +9 more
openaire +1 more source
Peptide Hormone‐Mediated Regulation of Plant Development and Environmental Adaptability
Advanced Science, EarlyView.In this review, recent advances in understanding the roles of plant peptide hormones in regulating growth, reproduction, and environmental adaptability are systematically summarized. It further elucidates the challenges in studying these peptides, such as their low abundance, functional redundancy, and complex signaling mechanisms, and highlights their
Xin Li +8 more
wiley +1 more source
Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
core
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
core +2 more sources
Advanced Science, EarlyView.Senescent mesenchymal stromal cells (MSCs) drive age‐related osteoporosis (A‐OP) via adipogenic bias. Resveratrol, selected from transcriptome‐identified core genes, is delivered locally using GelMA‐chitosan hydrogel‐functionalised titanium implants. In A‐OP microenvironments, the hydrogel enables the sustained release of resveratrol, which reverses ...
Wuzhe Fan +12 more
wiley +1 more source
A perilous path: the inborn errors of sphingolipid metabolism
Journal of Lipid Research, 2019 The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn +2 more
doaj
Advanced Science, EarlyView.Magnetically guided bioceramic nanoparticles (“CalBots”) achieve deep dentinal tubule occlusion via directed self‐assembly under externally applied magnetic field. Various visualization techniques and a novel mouse behavioral assay indicate that CalBot‐induced plugs may reduce dentinal sensitivity, offering a promising strategy for future dentin ...
Shanmukh Peddi +6 more
wiley +1 more source
Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]
The Pan African Medical Journal, 2011 BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali +3 more
doaj
Biodegradable Medical Implants: Reshaping Future Medical Practice
Advanced Science, EarlyView.Biodegradable medical implants are transforming future healthcare by providing sustainable, biocompatible solutions that eliminate secondary removal procedures, enhancing patients’ physical and psychological comfort, and reducing economic burdens.
Bo Xia +4 more
wiley +1 more source
Medicina, 2019 Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including ...
Laura Cristina Gironi +10 more
doaj +1 more source