Search Results - "Jenko Bizjan, Barbara"
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Focused peptide library screening as a route to a superior affinity ligand for antibody purification
Published in Scientific reports (02-06-2021)“…Affinity chromatography is the linchpin of antibody downstream processing and typically relies on bacterial immunoglobulin (Ig)-binding proteins, epitomized by…”
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Pathogenesis of Type 1 Diabetes: Established Facts and New Insights
Published in Genes (16-04-2022)“…Type 1 diabetes (T1D) is an autoimmune disease characterized by the T-cell-mediated destruction of insulin-producing β-cells in pancreatic islets. It generally…”
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Prevalence of Endocrine and Metabolic Comorbidities in a National Cohort of Patients with Craniopharyngioma
Published in Hormone research in paediatrics (01-07-2020)“…The major part of craniopharyngioma (CP) morbidity is the tumor and/or treatment-related damage, which results in impaired function of the…”
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Contribution of Retrotransposons to the Pathogenesis of Type 1 Diabetes and Challenges in Analysis Methods
Published in International journal of molecular sciences (01-02-2023)“…Type 1 diabetes (T1D) is one of the most common chronic diseases of the endocrine system, associated with several life-threatening comorbidities. While the…”
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Clinical-Pharmacogenetic Predictive Models for Time to Occurrence of Levodopa Related Motor Complications in Parkinson's Disease
Published in Frontiers in genetics (16-05-2019)“…The response to dopaminergic treatment in Parkinson's disease depends on many clinical and genetic factors. The very common motor fluctuations (MF) and…”
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Exploring early DNA methylation alterations in type 1 diabetes: implications of glycemic control
Published in Frontiers in endocrinology (Lausanne) (05-06-2024)“…Prolonged hyperglycemia causes diabetes-related micro- and macrovascular complications, which combined represent a significant burden for individuals living…”
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PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol
Published in Cancers (15-03-2024)“…In this study, we aimed to identify patients within our B-ALL cohort with altered . Our objective was to use a comprehensive analysis approach to characterize…”
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The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes
Published in Genes (15-04-2022)“…Type 1 diabetes is a chronic autoimmune disease in which the destruction of pancreatic β cells leads to hyperglycemia. The prevention of hyperglycemia is very…”
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Heterozygous NPR2 Variants in Idiopathic Short Stature
Published in Genes (15-06-2022)“…Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6%…”
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Faster Compared With Standard Insulin Aspart During Day-and-Night Fully Closed-Loop Insulin Therapy in Type 1 Diabetes: A Double-Blind Randomized Crossover Trial
Published in Diabetes care (01-01-2020)“…We evaluated the safety and efficacy of day-and-night fully closed-loop insulin therapy using faster (Faster-CL) compared with standard insulin aspart…”
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Challenges in identifying large germline structural variants for clinical use by long read sequencing
Published in Computational and structural biotechnology journal (01-01-2020)“…Genomic structural variations, previously considered rare events, are widely recognized as a major source of inter-individual variability and hence, a major…”
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The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing
Published in Scientific reports (05-11-2024)“…This study evaluates long-read and short-read sequencing for mitochondrial DNA (mtDNA) heteroplasmy detection. 592,315 bootstrapped datasets generated from two…”
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Universal screening for familial hypercholesterolemia in 2 populations
Published in Genetics in medicine (01-10-2022)“…In Europe, >2 million individuals with familial hypercholesterolemia (FH) are currently undiagnosed. Effective screening strategies for FH diagnosis in…”
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Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson’s Disease
Published in The international journal of neuropsychopharmacology (01-08-2020)“…Abstract Background The most common psychiatric complications due to dopaminergic treatment in Parkinson’s disease are visual hallucinations and impulse…”
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A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review
Published in Frontiers in genetics (16-08-2022)“…Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe…”
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Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity
Published in Frontiers in endocrinology (Lausanne) (29-04-2022)“…Monogenic obesity is a severe, genetically determined disorder that affects up to 1/1000 newborns. Recent reports on potential new therapeutics and innovative…”
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Integrative Transcriptomic Profiling of the Wilms Tumor
Published in Cancers (28-07-2023)“…Our study aimed to identify relevant transcriptomic biomarkers for the Wilms tumor, the most common pediatric kidney cancer, independent of the histological…”
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SARS-CoV-2 molecular epidemiology in Slovenia, January to September 2021
Published in Euro surveillance : bulletin européen sur les maladies transmissibles (23-02-2023)“…BackgroundSequencing of SARS-CoV-2 PCR-positive samples was introduced in Slovenia in January 2021. Our surveillance programme comprised three complementary…”
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Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review
Published in Frontiers in endocrinology (Lausanne) (07-06-2024)“…Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene…”
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