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Molecular basis of phenylketonuria in Serbia: an update
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Phenylketonuria (PKU) is the most frequent inborn disorder of amino acid metabolism
caused by variants in human phenylalanine hydroxylase gene (PAH).
Methods: In thisstudy (an update for the time period of ...
Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder characterized by fasting hypoglycemia and the accumulation of glycogen in the liver, kidneys and intestinal mucosa. Recent studies ...
Precision medicine and COVID-19: Importance of host genome profiling
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: The clinical picture and the course of the disease in COVID-19 patients, caused by coronavirus SARS-CoV-2, vary from asymptomatic to fatal outcome. As the same agent cause the disease, the
individual genomic ...
Prothrombin influences proliferation and migration of colon cancer in vitro
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Thrombin, crucial member of the coagulation cascade, can influence growth and development of different types of cancer. Prothrombin, thrombin precursor, although predominantly secreted
from the liver into ...
The role of MIR-34 family members on the mucociliary process in the cellular respiratory model system
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Primary ciliary dyskinesia is a rare and heterogeneous disorder primarily affecting the respiratory organs, with impaired mucociliary clearance being a common characteristic. Recently, the importance of the ...
Investigation of the role of the glucose-6-phosphate translocase in the activation of autophagy and glycogen-selective autophagy in glycogen storage disease type IB patients
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Glycogen storage disease type Ib (GSD-Ib) is characterized by a deficiency of glucose-6-
phosphate translocase (G6PT) encoded by the SLC37A4 gene, affecting glucose homeostasis and disrupting autophagy. ...
Can pharmacogenetic variants in TPMT, MTHFR and SLCO1B1 genes be used as potential markers of outcome prediction in systemic sclerosis patients?
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Systemic sclerosis(SSc) is a rare autoimmune disorder that affects connective tissues and
hasthe highest morbidity and mortality among rheumatologic diseases. Clinical presentations as well as
disease ...
Reconstitution of non-carrier, heterozygous and homozygous prothrombin belgrade mutation carrier plasma using recombinant proteins
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: The prothrombin Belgrade variant (c.1787G>A, p.Arg596Gln) is a rare mutation found in
Serbia, Japan, China, America, India and leads to antithrombin resistance. Prothrombin Belgrade mutation influencesthro ...
The role of the gut bacteria during host aging
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Microbial community established in the gut has been recognized as an important factor
which influence host aging. Bacteria from the gut co-evolved with the host resulting in mutually beneficial interactions ...
Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They ...