1. Faculty of Medicine: Poslední příspěvky
Zobrazují se záznamy 41-60 z 105
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Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction
původní článek
open access
vydavatelská verze
2024
,Cancer
,130
(17)
Background: The polygenic risk score (PRS) allows the quantification of the polygenic effect of many low-penetrance alleles on the risk of breast cancer (BC). This study aimed to evaluate the performance of two sets ...
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Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition
původní článek
open access
vydavatelská verze
2024
,Folia Biologica
,70
(1)
Germline DNA testing using the next-gene-ration sequencing (NGS) technology has become the analytical standard for the diagnostics of hereditary diseases, including cancer. Its increasing use places high demands on correct ...
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High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas
původní článek
open access
vydavatelská verze
2023
,Frontiers in Endocrinology
,14
(December)
INTRODUCTION: Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial ...
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Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
kazuistika
open access
vydavatelská verze
2023
,Kidney International Reports
,8
(5)
Renin is a component of the renin-angiotensin system and plays an important role in the regulation of embryonic kidney development, blood pressure, kidney perfusion, and potassium and acid-base balance. Identification and ...
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Aspartate-β-hydroxylase and hypoxia marker expression in head and neck carcinomas: implications for HPV-associated tumors
původní článek
open access
vydavatelská verze
2024
,Infectious Agents and Cancer
,19
(1)
BACKGROUND: A proportion of head and neck carcinomas (HNSCCs) are induced by high-risk human papillomaviruses (HPVs) and are associated with better patient outcomes compared to patients with HNSCCs related to tobacco and ...
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Virological characteristics of the SARS-CoV-2 Omicron EG.5.1 variant
původní článek
open access
vydavatelská verze
2024
,Microbiology and immunology
,68
(9)
In middle to late 2023, a sublineage of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron XBB, EG.5.1 (a progeny of XBB.1.9.2), is spreading rapidly around the world. We performed multiscale investigations, ...
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Detection of prions in matching post-mortem skin and cerebrospinal fluid samples using second-generation real-time quaking-induced conversion assay
původní článek
open access
vydavatelská verze
2024
,Scientific Reports
,14
(March)
Real-time quaking-induced conversion assay (RT-QuIC) exploits templating activity of pathogenic prion protein for ultrasensitive detection of prions. We have utilized second generation RT-QuIC assay to analyze matching ...
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The role of adipogenic capacity and dysfunctional subcutaneous adipose tissue in the inheritance of type 2 diabetes mellitus: cross-sectional study
původní článek
open access
vydavatelská verze
2024
,Obesity
,32
(3)
OBJECTIVE: This study tested the hypothesis that limited subcutaneous adipose tissue (SAT) expansion represents a primary predisposition to the development of type 2 diabetes mellitus (T2DM), independent of obesity, and ...
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The Czech Home Parenteral Nutrition Registry REDNUP: Comprehensive Analysis of Adult Patients' Data
původní článek
open access
vydavatelská verze
2024
,Annals of Nutrition & Metabolism
,80
(3)
INTRODUCTION: Home parenteral nutrition (HPN) is the primary treatment modality for patients with chronic intestinal failure, one of the least common organ failures. This article provides a retrospective analysis of the ...
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Fibrillar extracellular matrix produced by pericyte-like cells facilitates glioma cell dissemination
původní článek
open access
vydavatelská verze
2024
,Brain Pathology
,34
(6)
Gliomagenesis induces profound changes in the composition of the extracellular matrix (ECM) of the brain. In this study, we identified a cellular population responsible for the increased deposition of collagen I and ...
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How to wiki: Metodická příručka Wikiskript
How to wiki: Methodical guide to Wikiskripta
necertifikovaná metodika
open access
draft
2024
,Praha
,Univerzita Karlova
Metodická příručka WikiSkript je souborem návodů pro práci s otevřeným vzdělávacím prostředím WikiSkripta.eu. První část popisuje využití tzv. redakční šablony k řízení postupů při zpracování článků. Zabývá se i komunikací ...
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Learning Support Systems: A Practical Guide to E-learning at CU
necertifikovaná metodika
open access
draft
2024
,Praha
,Univerzita Karlova, Nakladatelství Karolinum
This guide introduces the e-learning support tools that are used most frequently at Charles University and that you may encounter during your studies. It will also help you to avoid the most common obstacles associated ...
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Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses
původní článek
open access
vydavatelská verze
2024
,BMC Genomics
,25
(1)
Background: Whole exome sequencing (WES) and whole genome sequencing (WGS) have become standard methods in human clinical diagnostics as well as in population genomics (POPGEN). Blood-derived genomic DNA (gDNA) is routinely ...
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Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder
původní článek
open access
vydavatelská verze
2024
,Genes, Brain and Behavior
,23
(1)
The genetic correlates of extreme impulsive violence are poorly understood, and there have been few studies that have characterized a large group of affected individuals both clinically and genetically. We performed whole ...
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Characterization of the evolutionary and virological aspects of mutations in the receptor binding motif of the SARS-CoV-2 spike protein
původní článek
open access
vydavatelská verze
2023
,Frontiers in Virology
,3
(December)
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has substantially diversified during the pandemic, resulting in the successive emergence of variants characterized by various mutations. It has been observed ...
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Characterization of the input material quality for the production of tisagenlecleucel by multiparameter flow cytometry and its relation to the clinical outcome
původní článek
open access
vydavatelská verze
2023
,Pathology & Oncology Research
,29
(April)
Tisagenlecleucel (tisa-cel) is a CD19(-)specific CAR-T cell product approved for the treatment of relapsed/refractory (r/r) DLBCL or B-ALL. We have followed a group of patients diagnosed with childhood B-ALL (n = 5), adult ...
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Fibrosis and expression of extracellular matrix proteins in human interventricular septum in aortic valve stenosis and regurgitation
původní článek
open access
vydavatelská verze
2024
,Histochemistry and Cell Biology
,161
(5)
Valvular heart disease leads to ventricular pressure and/or volume overload. Pressure overload leads to fibrosis, which might regress with its resolution, but the limits and details of this reverse remodeling are not known. ...
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Reprogramming of the developing heart by Hif1a-deficient sympathetic system and maternal diabetes exposure
původní článek
open access
vydavatelská verze
2024
,Frontiers in Endocrinology
,15
(March)
Introduction: Maternal diabetes is a recognized risk factor for both short-term and long-term complications in offspring. Beyond the direct teratogenicity of maternal diabetes, the intrauterine environment can influence ...
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Renal denervation improves cardiac function independently of afterload and restores myocardial norepinephrine levels in a rodent heart failure model
původní článek
open access
vydavatelská verze
2024
,Hypertension Research
,47
(10)
Renal nerves play a critical role in cardiorenal interactions. Renal denervation (RDN) improved survival in some experimental heart failure (HF) models. It is not known whether these favorable effects are indirect, explainable ...
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Díla Jana Marka Marci z Kronlandu ve fondu 1. lékařské fakulty Univerzity Karlovy
The Work of Johannes Marcus Marci of Cronland in the Book Collection of the First Faculty of Medicine at Charles University
původní článek
open access
vydavatelská verze
2020
,Knihy a dějiny
,27
(1-2)
Soubor šesti svazků (deseti děl) Jana Marka Marci z Kronlandu na 1. lékařské fakultě Univerzity Karlovy lze plným právem označit za průřezovou sbírku jeho děl. Vyznačují se vysokou uměleckou úrovní a dobrou typografií. ...
