Archives of Medical Science

CLINICAL RESEARCH

SARS-CoV-2 infection activating a novel variant of the NOTCH3 gene and subsequently causing development of CADASIL

Zbigniew J. Król, Małgorzata Dorobek, Maciej Dąbrowski, Justyna Zielińska-Turek, Bartosz Mruk, Jerzy Walecki, Katarzyna Sklinda, Robert Gil, Agnieszka Pawlak, Marzena Wojtaszewska, Adrian Lejman, Paula Dobosz, Paweł Zawadzki, Aneta Pawłowska, Michał Szczepaniak, Dorota Król, Artur Zaczyński, Waldemar Wierzba

Arch Med Sci 2023;19(6):1781–1794

DOI: https://doi.org/10.5114/aoms/146978

Abstract

SARS-CoV-2 infection activating a novel variant of the NOTCH3 gene and subsequently causing development of CADASIL

Serum tRNA-derived fragments as potential biomarkers in children with acute intussusception

Identification of gene polymorphisms associated with fat mass by genome-wide association study in Chinese people

Cardiac microRNAs: diagnostic and therapeutic potential

The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency

Alternate-day fat diet and exenatide modulate the brain leptin JAK2/STAT3/SOCS3 pathway in a fat diet-induced obesity and insulin resistance mouse model

Variation in the gene encoding the co-inhibitory molecule BTLA is associated with survival in patients treated for clear cell renal carcinoma – results of a prospective cohort study

Association of BAFF and BAFF-R polymorphisms with sarcoidosis in a Greek patient cohort

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing

mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease

Association of PRDM16 rs12409277 and CtBP2 rs1561589 gene polymorphisms with lipid profile of adolescents

Clinical value of microRNA-19a-3p and microRNA-99a-5p in bladder cancer

Determining the current prevalence of β-thalassemia variants in Jordan

Prognostic value of midkine, syndecan-1, hyaluronan synthase-2, sestrin-1, laminin subunit alpha-4 and fibulin-3 for malignant pleural mesothelioma

Extended application of BACs-on-Beads technique in prenatal diagnosis

A systematic review and meta-analysis of the association between HOTAIR polymorphisms and susceptibility to breast cancer

Increased IL-1α expression is correlated with bladder cancer malignant progression

APOA1 (-75 G>A and 83 C>T) and APOB (2488 C>T) polymorphisms and their association with myocardial infarction, lipids and apolipoproteins in patients with type 2 diabetes mellitus

The toxicology properties of modified hydrothermal nanotitania extraction

Correlation between KRAS, NRAS and BRAF mutations and tumor localizations in patients with primary and metastatic colorectal cancer

The challenges of androgen insensitivity syndrome

Overall survival analysis of > 65-year-old patients with breast cancer based on their molecular, clinicopathological and laboratory factors

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

Serum microRNA profiles in patients with autosomal dominant polycystic kidney disease show systematic dysregulation partially reversible by hemodialysis

Genetic polymorphism of CYP3A4 is associated with poor response to ifosfamide treatment in children with solid embryonic tumors

Positive association and future perspectives of mitochondrial DNA copy number and telomere length – a pilot twin study

Downregulation of long non-coding RNA B-Raf proto-oncogene-activated non-coding RNA reverses cisplatin resistance in laryngeal squamous cell carcinoma

The association of FMR1 gene (CGG)n variation with idiopathic female infertility

MicroRNA profile and iron-related gene expression in hepatitis C-related hepatocellular carcinoma: a preliminary study

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

An investigation of the relation between catalase C262T gene polymorphism and catalase enzyme activity in leukemia patients

Quantification of long non-coding RNAs using qRT-PCR: comparison of different cDNA synthesis methods and RNA stability

Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers

Serum anti-inflammatory and inflammatory markers have no causal impact on telomere length: a Mendelian randomization study

KIR2DL2/S2 and KIR2DS5 in alcoholic cirrhotic patients undergoing liver transplantation

Long noncoding RNA profiling and bioinformatics analysis in the human hepatocellular carcinoma cell line HepG2.2.15 treated with different sex hormones

NGS study of glucocorticoids response genes in inflammatory bowel disease patients

Effect of TOP2A and ERCC1 gene polymorphisms on the efficacy and toxicity of cisplatin and etoposide-based chemotherapy in small cell lung cancer patients

Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management

Role of the interleukin-17 pathway in the pathogenesis of atrial fibrillation associated with inflammation

PCSK9 genetic variants and cognitive abilities: a large-scale Mendelian randomization study

IFN-γ +874 A>T (rs2430561) gene polymorphism and risk of pulmonary tuberculosis: a meta-analysis

Assessment of EGFR gene mutations in circulating free DNA in monitoring of response to EGFR tyrosine kinase inhibitors in patients with lung adenocarcinoma

A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family

Association between myeloperoxidase rs2333227 polymorphism and susceptibility to coronary heart disease

Exposure to biomass smoke, cigarettes, and alcohol modifies the association between tumour necrosis factor (–308G/A, –238G/A) polymorphisms and tuberculosis in Mexican carriers

Mitogenome germline mutations and colorectal cancer risk in Polish population

Catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias

Expression of markers of neural stem and progenitor cells in glioblastoma multiforme in relation to tumor recurrence and overall survival

Genetic causes of hypopituitarism

Mechanism of microRNA-431-5p-EPB41L1 interaction in glioblastoma multiforme cells

Effects of vascular endothelial growth factor and epidermal growth factor on biological properties of gastric cancer cells

E-selectin gene haplotypes are associated with the risk of myocardial infarction

Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers

Association of polymorphisms of the TNFRSF11B and TNFSF11 genes with bone mineral density in postmenopausal women from western Mexico

Mitochondria in migraine pathophysiology – does epigenetics play a role?

Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy

Metabolic and genetic profiling of young adults with and without a family history of premature coronary heart disease (MAGNETIC). Study design and methodology

Polymorphisms in MTHFR, MTR, RFC1 and CßS genes involved in folate metabolism and thyroid cancer: a case-control study

Circulating microRNAs as biomarkers for myocardial fibrosis in patients with left ventricular non-compaction cardiomyopathy

Age at onset of obesity, transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism, adiponectin levels and the risk of type 2 diabetes in obese patients

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Association of common polymorphisms in the VEGFA and SIRT1 genes with type 2 diabetes-related traits in Mexicans

Evaluation of the effects of pregabalin on chondrocyte proliferation and CHAD, HIF-1α, and COL2A1 gene expression

Association of extrapituitary prolactin promoter polymorphism with disease susceptibility and anti-RNP antibodies in Mexican patients with systemic lupus erythematosus

Glycoprotein Ibα Kozak polymorphism in patients presenting with early-onset acute coronary syndrome

2D and 3D cell cultures – a comparison of different types of cancer cell cultures

Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Aerobic and concentration training and allele 7 in the dopamine receptor D4 (D4DR) gene increase chances of smoking cessation in young Polish women

Polymorphism of MSH2 Gly322Asp and MLH1 –93G>A in non-familial colon cancer – a case-controlled study

Predictive values of Notch signalling in renal carcinoma

SOX10-MITF pathway activity in melanoma cells

Updated analysis of vitamin D receptor gene FokI polymorphism and prostate cancer susceptibility

Investigation of platinum nanoparticle properties against U87 glioblastoma multiforme

Does genetic testing for ERα gene polymorphisms provide new possibilities of treatment for cognitive function disorders in postmenopausal women?

Postmenopausal cognitive changes and androgen levels in the context of apolipoprotein E polymorphism

Five gene variants in nonagenarians, centenarians and average individuals

MicroRNAs and metabolic disorders – where are we heading?