Results 81 to 90 of about 306,932 (310)
FEBS Letters, EarlyView.We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee +3 more
wiley +1 more source
Mediterranean Journal of Hematology and Infectious DiseasesWe report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Paola Ranalli +3 more
doaj +1 more source
Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]
, 2019 This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S +10 more
core +2 more sources
Structural biology of ferritin nanocages
FEBS Letters, EarlyView.Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley +1 more source
Eye involvement in inherited metabolic disorders
Therapeutic Advances in Ophthalmology, 2020 Inherited metabolic disorders are a large group of rare disorders affecting normal biochemical pathways. Many metabolic disorders can present with symptoms affecting the eye, and eye disorders can evolve later in the natural history of an already ...
James E. Davison
doaj +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Upper limb peripheral neuropathy in sickle cell anemia: MR neurography appearances
Indian Journal of Radiology and Imaging, 2019 Sickle cell anemia is an inherited disorder with many systemic complications. Peripheral neuropathy related to this disorder has been sparsely reported.
Feng Poh, Rocco Hlis, Avneesh Chhabra
doaj +1 more source
Mechanisms of IgE‐mediated food allergy and the role of allergen‐specific B cells
FEBS Letters, EarlyView.Food allergy arises when allergen‐specific B cells preferentially produce immunoglobulin E (IgE) antibodies against harmless foods. This article explains the mechanisms driving IgE‐mediated reactions, highlights the central role of these B cells, and discusses how natural tolerance (NT) and oral immunotherapy (OIT) can reshape allergic immune responses.
Juan‐Felipe López +2 more
wiley +1 more source
Stem Cell ResearchCDC73-related disorders are inherited in an autosomal dominant manner. An individual with a CDC73-related disorder may have inherited the disorder from an affected parent or developed it as the result of a de novo pathogenic variant of CDC73.
Almaqdad Alsalloum +7 more
doaj +1 more source
Genetic Information and the Workplace - Full Report [PDF]
, 1998 Joint Agency ReportGeneticInfoWorkplace1998.pdf: 800 downloads, before Oct.
Department of Health and Human Services, U.S. +2 more
core +1 more source