Results 41 to 50 of about 24,798 (312)
Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation
International Journal of Neonatal Screening, 2023 Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow ...
Rodrigo Alfredo Morales Painamil +7 more
doaj +1 more source
Natural Variation of NAR5 Determines Nitrogenase Activity and the Yield in Soybean
Advanced Science, EarlyView.This study identified NAR5, a gene encoding a subtilisin‐like protease, that regulates nitrogenase activity in soybean nodules. Overexpressing NAR5 delayed nodule senescence, enhancing nitrogenase activity, yield, and low‐nitrogen tolerance. The elite haplotype NAR5HapI‐1 linked to superior nitrogenase activity and greater seed weight has been ...
Chao Ma +11 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2016 The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood +11 more
doaj +1 more source
Case-control study about the acceptance of Pegvaliase in Phenylketonuria
Molecular Genetics and Metabolism Reports, 2020 Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj +1 more source
Scientific Reports, 2022 Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal +9 more
doaj +1 more source
Targeting Supramolecular Active Complexes of Nav1.7/Nav1.8 to Relieve Chronic Neuropathic Pain
Advanced Science, EarlyView.In mice and patients with severe chronic neuropathic pain (NP), Nav1.7, Nav1.8, TrkB, and five cytoskeletal proteins form supramolecular active complexes (SMACs) with polygonal lattice structures as noxious signal amplifiers in dorsal root ganglion (DRG) neurons.
Liting Sun +27 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2020 Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj +1 more source
Inborn errors of enzymes in glutamate metabolism [PDF]
, 2020 Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Verhoeven-Duif, Nanda +11 more
core +1 more source
Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options [PDF]
, 2023 A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available.
Janine Stucki +9 more
core +1 more source
NFYB Integrates Hormonal Signals into Tissue Allometry by Promoting Protein Biosynthesis
Advanced Science, EarlyView.In the American cockroach, NFYB acts as a spatiotemporin that translates distinct hormonal cues into tissue‐specific allometry. Juvenile hormone activates NFYB in the early fat body, while 20‐hydroxyecdysone induces it in late wing pads. NFYB then promotes protein biosynthesis via core translational machinery, driving differential growth across the ...
Fangfang Liu +11 more
wiley +1 more source