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Poslední příspěvky
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Mechanistic modeling of recessive disease through allelic integration of variant effects
původní článek
open access
vydavatelská verze
2026
,Elsevier
,Cell Systems
,17
(6)
Interpreting variants in recessive diseases is difficult because clinical severity depends on the combined function of both alleles. Deep mutational scanning (DMS) experiments can provide functional measurements at scale, ...
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A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis
kazuistika
open access
vydavatelská verze
2026
,Elsevier
,Kidney International
,110
(1)
In summary, guided by the patient's clinical course and diagnostic challenges, we report, for the first time, a family with autosomal dominant hereditary AA amyloidosis caused by a heterozygous SAA1 missense mutation, ...
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Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
původní článek
open access
vydavatelská verze
2026
,BMJ Pub. Group
,Journal of Medical Genetics
,online AoP
(14 May 2026)
Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers' genetic literacy and an ambiguous lexicon for variant description may hinder proper delivery ...
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Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
původní článek
open access
vydavatelská verze
2026
,Elsevier
,Kidney International
,109
(4)
Introduction: Biallelic variants in Fanconi Anemia-associated Nuclease 1 (FAN1) cause karyomegalic tubulointerstitial nephropathy (KIN), a condition poorly characterized in terms of kidney survival, patient survival, and ...
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Feasibility and Preliminary Outcomes of Group–Based Cognitive Remediation and Emotion Skills Training (CREST) for Adult Women With Anorexia Nervosa and Bulimia Nervosa: A Pilot Pre–Post Study
původní článek
open access
vydavatelská verze
2026
,John Wiley & Sons
,European Eating Disorders Review
,34
(4)
Introduction: Cognitive and emotional deficits are common in eating disorders (EDs), especially anorexia nervosa (AN) and bulimia nervosa (BN), and can hinder engagement and recovery. This pilot single-group pre-post study ...
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CD64-Targeted Polymer-Drug Conjugates Exploit Cathepsin K-Dependent Payload Release for Selective Elimination of Immunosuppressive Macrophages
původní článek
open access
vydavatelská verze
2026
,American Chemical Society
,Molecular Pharmaceutics
,23
(5)
Selective depletion of immunosuppressive macrophages in the tumor microenvironment is a promising strategy in cancer therapy. CD64 is broadly expressed on myeloid cells, including both pro-inflammatory M1-like and ...
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One-year multicenter surveillance of Fosfomycin resistance Enterobacterales: the rise of FosA3-producing P. mirabilis
původní článek
open access
vydavatelská verze
2026
,Elsevier B.V.
,Current Research in Microbial Sciences
,10
(24 March)
The global rise of antimicrobial resistance has renewed interest in fosfomycin (FOS), an old antibiotic with activity against multidrug-resistant Enterobacterales . However, resistance to FOS is increasing, driven by ...
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Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics
původní článek
open access
vydavatelská verze
2026
,Wiley-Liss, Inc.
,Human Mutation
,2026
(1)
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by bi-allelic pathogenic variants in the ATPase copper transporting beta gene (ATP7B). Results of standard genetic diagnostics remain ...
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Unraveling the telomere-mitochondrial axis in colorectal cancer: Results from a prospectively followed cohort
původní článek
open access
vydavatelská verze
2026
,North Shore-Long Island Jewish Research Institute
,Molecular Medicine
,32
(1)
Background Telomere shortening and mitochondrial dysfunction are well-known independent contributors to many diseases, but emerging evidence suggests a reciprocal relationship between the two processes. The role of the ...
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Comparative effectiveness of anti-CD20 therapies and S1P receptor modulators in late-onset multiple sclerosis: real-world evidence from the MSBase registry
původní článek
open access
vydavatelská verze
2026
,Sage
,Therapeutic Advances in Neurological Disorders
,19
(April)
Background: Late-onset multiple sclerosis (LOMS), defined by symptom onset after age 50, is increasingly recognised as a distinct clinical entity. Evidence comparing disease-modifying therapies (DMTs) in this subgroup ...
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Does motherhood increase the risk of developing subsequent malignant neoplasms after childhood cancer treatment?
původní článek
open access
vydavatelská verze
2026
,Elsevier Ltd.
,Cancer Epidemiology
,101
(April)
BACKGROUND: Most young women who have survived childhood cancer express a desire to have children. Many of them are concerned about the potential adverse impact of pregnancy on their health, which has been affected by prior ...
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Discovery of Novel Murine PML Isoforms
původní článek
open access
vydavatelská verze
2026
,Landes Bioscience
,Nucleus
,17
(1)
Promyelocytic leukemia protein (PML) orchestrates the formation of PML nuclear bodies (PML NBs), membraneless organelles with diverse regulatory roles. Despite their importance, the specific functions of individual PML ...
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Elucidation of new sulfamethoxazole catabolic pathways in whole-cell catalyst of bacterium Kocuria rhizophila SA117
původní článek
open access
vydavatelská verze
2025
,Bioresource Technology
,435
(November)
Sulfamethoxazole (SMX) and its residues exhibit high environmental persistence due to their resistance to conventional degradation processes. The bacterial strain Kocuria rhizophila SA117, isolated from polluted soils, was ...
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The Prognostic Role of Baseline and Early Dynamics of Peripheral Blood Cell Ratios in Metastatic Renal Cell Carcinoma Patients Treated With Nivolumab
původní článek
open access
vydavatelská verze
2026
,Iōannīs G. Delīnasios
,In Vivo
,40
(2)
BACKGROUND/AIM: Immune checkpoint inhibitors (ICI), including nivolumab, have become the cornerstone of systemic treatment in metastatic renal cell carcinoma (mRCC). Blood-derived biomarkers including neutrophil-to-lymphocyte ...
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Mitochondrial Transfer Rescues Respiration to Support De Novo Pyrimidine Biosynthesis and Tumor Progression
původní článek
open access
vydavatelská verze
2026
,American Association for Cancer Research
,Cancer Research
,86
(4)
Cancer cells with severe defects in mitochondrial DNA (mtDNA) can import mitochondria via horizontal mitochondrial transfer to restore respiration. Mitochondrial respiration is necessary for the activity of dihydroorotate ...
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Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers
původní článek
open access
vydavatelská verze
2026
,Springer
,Discover Oncology
,17
(1)
INTRODUCTION: Breast cancer is the most prevalent malignancy among women worldwide. A significant portion of patients possess homologous recombination deficiency (HRD), often caused by BRCA1/2 mutations, which may sensitize ...
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SHARED AND NON-SHARED MUTATIONS IN APC AND TP53 GENES IN PAIRED PRIMARY AND METASTATIC COLORECTAL CANCER FROM SYNCHRONOUS AND METACHRONOUS PATIENTS
původní článek
open access
preprint
2026
BackgroundMutational cascades in colorectal cancer (CRC) between the primary tumor (pCRC) and liver metasta-sis (LM) are poorly understood in individual patients. We focused on differences in specific APC and TP53 mutations ...
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Negative prognostic significance of primary cilia and cytoplasmic β-catenin expression in non-small cell lung cancer
původní článek
open access
vydavatelská verze
2024
,Cancer Research Institute of the Slovak Academy of Sciences
,Neoplasma
,71
(6)
The objective of this study was to investigate the prognostic significance of the frequency of primary cilia (PC) and β-catenin expression in 218 patients (pts) with non-small cell lung cancer (NSCLC), including 125 pts ...
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Assessing potentially inappropriate medication use among older adults in Central and Eastern Europe
původní článek
open access
vydavatelská verze
2025
,Published for the Finnish Medical Society Duodecim by the Royal Society of Medicine Press
,Annals of Medicine
,57
(1)
Objective The aim of this study was to examine the prevalence of potentially inappropriate medication (PIM) use and its associated risk factors in community-dwelling older adults from five Central and Eastern European (CEE) ...
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Anticholinergic and Sedative Medication Burden in Croatian Older Adults: EuroAgeism Cohort Findings
původní článek
open access
vydavatelská verze
2025
,MDPI AG
,Pharmacy
,13
(5)
Use of anticholinergic and sedative medications is potentially inappropriate in older adults due to associated adverse effects, including impaired cognitive and physical function. This study evaluated anticholinergic and ...



















