Results 111 to 120 of about 273,241 (304)

Designing an Algorithm to Preserve Privacy for Medical Record Linkage With Error-Prone Data

open access: yesJMIR Medical Informatics, 2014
BackgroundLinking medical records across different medical service providers is important to the enhancement of health care quality and public health surveillance. In records linkage, protecting the patients’ privacy is a primary requirement.
Pal, Doyel   +3 more
doaj   +1 more source

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

open access: yesMolecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu   +15 more
wiley   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

open access: yesMolecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han   +5 more
wiley   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

open access: yesMolecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair   +17 more
wiley   +1 more source

Brain magnetic resonance imaging predictors in anti‐N‐methyl‐D‐aspartate receptor encephalitis

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1974-1984, December 2022., 2022
Abstract Objective Brain magnetic resonance imaging (MRI) findings in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis are nonspecific and rarely have obvious associations with clinical characteristics and outcomes. This study aimed to comprehensively describe the MRI features of patients with NMDAR encephalitis, examine their associations with ...
Ying‐Ying Zhao   +8 more
wiley   +1 more source

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology

open access: yesEBioMedicine, 2022
Summary: Background: Essential tremor (ET), one of the most common neurological disorders, has a phenotypically heterogeneous presentation characterized by bilateral kinetic tremor of the arms and, in some patients, tremor involving other body regions ...
Lorraine N. Clark   +9 more
doaj  

Employing MCMC under the PPL framework to analyze sequence data in large pedigrees

open access: yesFrontiers in Genetics, 2013
The increased feasibility of whole genome (or whole exome) sequencing has led to renewed interest in using family data to find disease mutations. For clinical phenotypes that lend themselves to study in large families, this approach can be particularly ...
Yungui eHuang   +3 more
doaj   +1 more source

Cayley Analysis of Mechanism Configuration Spaces using CayMos: Software Functionalities and Architecture [PDF]

open access: yesarXiv, 2014
For a common class of 2D mechanisms called 1-dof tree decomposable linkages, we present a software CayMos which uses new theoretical results to implement efficient algorithmic solutions for: (a) meaningfully representing and visualizing the connected components in the Euclidean realization space; (b) finding a path of continuous motion between two ...
arxiv  

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