Results 121 to 130 of about 714,661 (305)
Cell Communication and SignalingTP53 mutation (TP53-mut) correlates with inferior survival in many cancers, whereas its prognostic role in diffuse large B-cell lymphoma (DLBCL) is still in controversy.
Kai-Xin Du +14 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2018 A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo +3 more
doaj +1 more source
Selenium Nanoparticles Selectively Target KRAS G13D to Inhibit Colorectal Cancer
Advanced Science, EarlyView.The mechanisms of SeNPs therapy in cancer treatment, encompass three parallel actions: (1) seleno‐amino acids, key metabolites, upregulate GPX2 expression, thereby inhibiting tumor metastasis via the GPX2‐HIF1α‐VEGF signaling pathway; (2) selenite (SeO32−), an inorganic metabolite, forms hydrogen bonds with amino acid residues 13–17 of the KRAS G13D ...
Xiaoting Liu +13 more
wiley +1 more source
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P +8 more
core
, 2012 Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to
M. Yavuz, Huseyin Avcilar
openaire +2 more sources
SiDT1 Defines Plant Architecture Reminiscent of Green Revolution in Foxtail Millet
Advanced Science, EarlyView.SiDT1 encodes a GA3‐oxidase that creates a semi‐dwarf, lodging‐resistant architecture reminiscent of the rice Green Revolution. The resulting ideotype performs well under dense planting and provides a valuable genetic resource for high‐yield, mechanized foxtail millet production. ABSTRACT Foxtail millet (Setaria italica) is a drought‐tolerant C4 cereal
Jianzhen Lv +13 more
wiley +1 more source
Leveraging Cancer Mutation Data to Predict the Pathogenicity of Germline Missense Variants [PDF]
, 2023 This thesis explores the potential of leveraging cancer mutation data as an additional line of evidence to enhance the interpretation of germline missense variants.
Haque, Bushra
core
Advanced Science, EarlyView.Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li +23 more
wiley +1 more source
Bioinformatics Profiling Of Missense Mutations
, 2009 The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire +1 more source
Advanced Science, EarlyView.The study establishes an immune‐cure (ICu) mouse model based on a TMEMed G422TN‐GBM system that faithfully recapitulates human TMEMed GBM. scRNA‐seq analysis reveals a Csmd3+ microglial subset with innate immune memory (IIM) potential that potently suppresses GBM growth, drives a TME cold‐to‐hot transition, and induces 100% ICu in long‐term survival ...
Hai‐Feng Jiang +12 more
wiley +1 more source