Results 221 to 230 of about 5,900,834 (385)

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

open access: yesMolecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka   +10 more
wiley   +1 more source

A case of Beauveria bassiana keratitis confirmed by internal transcribed spacer and LSU rDNA D1–D2 sequencing

open access: yesNew Microbes and New Infections, EarlyView., 2014
Abstract We describe a case of fungal keratitis due to Beauveria bassiana in a farmer with Fuchs' dystrophy, treated with amphotericin B. Surgery with penetrating keratoplasty was necessary to resolve the lesions. Susceptibility testing and molecular sequencing permitted the identification and treatment of this rare aetiological agent of invasive ...
M. Ligozzi   +8 more
wiley   +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

Q fever outbreak in the terraced vineyards of Lavaux, Switzerland

open access: yesNew Microbes and New Infections, EarlyView., 2014
Abstract Coxiella burnetii infection (Q fever) is a widespread zoonosis with low endemicity in Switzerland, therefore no mandatory public report was required. A cluster of initially ten human cases of acute Q fever infections characterized by prolonged fever, asthenia and mild hepatitis occurred in 2012 in the terraced vineyard of Lavaux ...
C. Bellini   +9 more
wiley   +1 more source

Phenotypic continuum of NFU1‐related disorders

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov   +45 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

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