Practical considerations in screening for genetic alterations in cholangiocarcinoma [PDF]
Cholangiocarcinoma (CCA) encompasses diverse epithelial tumors historically associated with poor outcomes due to an aggressive disease course, late diagnosis, and limited benefit of standard chemotherapy for advanced disease. Comprehensive molecular profiling has revealed a diverse landscape of genomic alterations as oncogenic drivers in CCA.
Bekaii-Saab, TS +2 more
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Serological screening for cysticercosis in mentally altered individuals [PDF]
The parasitic infection neurocysticercosis may give rise to a variety of psychiatric manifestations that resemble, but are different from, primary psychiatric disorders. The aim of this study was to determine if among individuals from a neurocysticercosis‐endemic area of Colombia who apparently had a psychiatric manifestation with associated ...
Fernando, Sanzón +10 more
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A genome‐wide screen for copy number alterations in Aicardi syndrome [PDF]
AbstractAicardi syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X‐linked gene or by defects in an autosomal gene with sex‐limited expression. Because all reported cases are sporadic with one exception, traditional
Xiaoling, Wang +6 more
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Screening for Barley Mutants With Altered Hormone Sensitivity in Their Aleurone Layers [PDF]
A method, based on the diffusion assay of alpha-amylase on agar plates, was developed to screen for barley (Himalaya) mutants with altered sensitivity to gibberellic acid (GA(3)) or abscisic acid (ABA) in their aleurone layers. The seeds produced by sodium azide-mutagenized barley were screened for their ability to synthesize and secrete alpha-amylase ...
Tuan-Hua David Ho +2 more
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Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance [PDF]
Blood collection for newborn genetic disease screening is preferably performed within 24–48 h after birth. We used population-level newborn screening (NBS) data to study early postnatal metabolic changes and whether timing of blood collection could impact screening performance. Newborns were grouped based on their reported age at blood collection (AaBC)
Gang Peng +6 more
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A Genome-wide RNAi Screen for Polypeptides that Alter rpS6 Phosphorylation [PDF]
Mammalian target of rapamycin (mTOR) is a giant protein kinase that controls cell proliferation, growth, and metabolism. mTOR is regulated by nutrient availability, by mitogens, and by stress, and operates through two independently regulated hetero-oligomeric complexes.
Angela, Papageorgiou, Joseph, Avruch
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Screening and merging algorithm for the detection of copy-number alterations
We call change-point problem (CPP) the identification of changes in the probabilistic behavior of a sequence of observations. Solving the CPP involves detecting the number and position of such changes. In genetics the study of how and what characteristics of a individual's genetic content might contribute to the occurrence and evolution of cancer has ...
Pinheiro, Murilo S. +2 more
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The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease
The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP.
D, Campion +9 more
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Alteration of perception of the screen image - actual trend analysis
The article is devoted to consideration of alteration of perception caused by influence of ways of reproduction of the screen images. The analysis of the factors influencing the process of perception is carried out. Special attention is given to inluence of TV and changes introduced by it.
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