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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 ...
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 ...
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 ...
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 ...
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 ...
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. ...
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 ...
Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system 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), schizophrenia, and intellectual disability, represent important public health challenge in modern societies
with a prevalence of ...
Rare metabolic diseases in the genomics era
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: All inborn metabolic diseases are rare, having a prevalence less than 1:2000. Vast majority of them are monogenic and finding pathogenic genetic variantsis needed to setthe correct diagnosis, enable adequate ...
Identification of potentally causal variants for myasthenia gravis: a bioinformatics-driven fine-mapping approach combined with genetic association study
(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)
Introduction: Genome-wide association studies (GWAS) identify genomic loci that contain genetic determinants
of complex diseases. Subsequent functional genomic approaches, such as bioinformatic finemapping
and ...