Results 171 to 180 of about 10,628,077 (304)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

Therapy-induced remodeling of IgG and plasma N-glycans in breast cancer. [PDF]

open access: yesBMC Cancer
Maričić Vrban M   +9 more
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris   +4 more
wiley   +1 more source

α2,3‐Sialyltransferase (ST3Gal1) regulates endometrioid‐type epithelial ovarian cancer cell migration and invasion via VEGF‐R2/JAK2/STAT3 signaling cascades

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To investigate the role of ST3 β‐galactoside α‐2,3‐sialyltransferase 1 (ST3Gal1) and vascular endothelial growth factor receptor 2 (VEGF‐R2) in endometrioid‐type epithelial ovarian cancer (E‐OC) because aberrant α2,3‐sialylation mediated by ST3Gal1 and VEGF‐R2‐related angiogenesis is linked with tumor progression. Methods ST3Gal1 and
Wei‐Ting Chao   +5 more
wiley   +1 more source

Structural analysis of isomeric N-glycans by ion mobility and negative ion fragmentation: applications to glycans released from fungi

open access: yes, 2012
Little is known about the N-glycans present on the glycoproteins of basidiomycetes other than that they appear to consist mainly of the high-mannose glycans Man5-9GlcNAc2 with some other novel compounds present in a few species.
Scrivens, James H.   +3 more
core  

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