Results 11 to 20 of about 124,127 (166)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Educação patrimonial: contributos para a construção de uma consciência patrimonial [PDF]
, 2015 [Excerto] Esta obra em formato eletrónico [e-book] Educação Patrimonial: contributos para a construção de uma consciência patrimonial, pretende ser mais um contributo para a divulgação e aprofundamento da reflexão sobre investigação em Educação ...
core +2 more sources
Proposição do sipa - sistema de interação patrimonial auxiliar [PDF]
, 2013 TCC(graduação) - Universidade Federal de Santa Catarina. Centro Tecnológico. Engenharia Sanitária e Ambiental.Este trabalho aborda a proposta de criação de um sistema auxiliar para gestão dos bens móveis permanentes pertencentes ao patrimônio da ...
Rodrigues, Rodrigo
core
Epigenetic reprogramming of lineage switching in cancer
FEBS Letters, EarlyView.Cancer cells rarely commit to a single identity. Epigenetic mechanisms and tumor microenvironment cues push epithelial cells toward flexible, hybrid states that can shift into mesenchymal, neuroendocrine, or stem‐like fates, driving metastasis, drug resistance, and tumor heterogeneity. Targeting the epigenetic regulators behind these transitions, using
Ezgi Boyvatlı +4 more
wiley +1 more source
Smaller is better: nanobodies meet NMR
FEBS Letters, EarlyView.Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley +1 more source
Advanced Science, EarlyView.This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su +9 more
wiley +1 more source
As mudanças no controle interno contábil de uma autarquia federal para adequação ao enfoque patrimonial da contabilidade pública [PDF]
, 2014 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Sócio-Econômico, Programa de Pós-Graduação em Contabilidade, Florianópolis, 2014.O objetivo deste estudo foi evidenciar os mecanismos de controle interno contábil, adotados pelo ...
Bernardo, Fabiano Domingos
core
Advanced Science, EarlyView.This study integrates rice immune perception, signal transduction, and resistance output into a multi‐omics framework. By combining high‐throughput sequencing, phenomics, and AI‐assisted design with marker‐assisted selection, gene editing, and rapid domestication, we aim to accelerate the precise breeding of disease‐resistant rice varieties by ...
Xinyue Hou +4 more
wiley +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source