A5020652637- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic factors in colorectal cancer
- Sperm and Testicular Function
- Pancreatic and Hepatic Oncology Research
- TGF-β signaling in diseases
- Sexual Differentiation and Disorders
- Digestive system and related health
- Cancer Genomics and Diagnostics
- Birth, Development, and Health
- Epigenetics and DNA Methylation
- Renal and related cancers
- Circadian rhythm and melatonin
- Animal Genetics and Reproduction
- Cancer Diagnosis and Treatment
- Colorectal Cancer Treatments and Studies
- Neurological diseases and metabolism
- Acute Myocardial Infarction Research
- Colorectal and Anal Carcinomas
- Ovarian cancer diagnosis and treatment
- Ubiquitin and proteasome pathways
- Telomeres, Telomerase, and Senescence
- Amino Acid Enzymes and Metabolism
- DNA Repair Mechanisms
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
University of Belgrade
2010-2024
Institut za Reumatologiju
2022
Institute of Human Genetics
2007-2014
The circadian system has a major role in maintaining homeostasis and proper body functions including reproductive capacity. aim of this study was to examine whether there is an association between genetic variability the primary clock genes CLOCK ARNTL male infertility humans.We performed case-control study, where we searched for polymorphisms 961 Slovenian Serbian Caucasian men. group consisted 517 patients with idiopathic control 444 fertile A statistically significant difference found...
Are de novo mutations in the human genome associated with male infertility?We identified five candidate genes: SEMA5A, NEURL4, BRD2, CD1D, and CD63.Epidemiological genetic studies have consistently indicated contribution of factors to etiology infertility, suggesting that more than 1500 genes are involved spermatogenesis.First, we searched for patients idiopathic azoospermia whole-exome sequencing (WES). To evaluate potential functional impact mutations, analyzed their expression differences...
Physiological studies in animals and human support an important role of circadian system reproduction. The aim this study was to investigate the potential association CLOCK gene polymorphisms with idiopathic recurrent spontaneous abortion (IRSA). We performed a case-control study. group consisted 268 women history three or more abortions 284 at least two live births no pathologic pregnancies all from Slovenia Serbia. Two SNPs were chosen genotyped. results showed statistically significant...
The aim of the study was to investigate association between GSTM1 and GSTT1 gene deletion MTHFR C677T mutation male infertility. has encompassed 52 infertile 56 fertile males. Genotype distributions deletions did not differ significantly among analyzed groups, however, a difference in distribution certain genotype combinations observed. obtained results indicate that carriers double GSTM1/GSTT1 677CC are at higher risk infertility than any other combination genotypes (OR 3.5, 95%CI 0.68-18.30). .
The aim of this study was to examine whether there is an association among genetic variability in leptin (LEP) and receptor (LEPR) genes male infertility. We performed a case-control were searching for between polymorphisms LEP LEPR group consisted 317 patients with idiopathic infertility control 241 fertile men from Slovenia. Four single nucleotide (SNPs) gene four chosen genotyped. Statistically significant SNP further validated additional 255 infertile 168 controls Serbia Macedonia. In...
Objective This study was aimed at analyzing alterations in K- ras gene and SMAD4 promoter endometrial carcinoma tissue Serbian patients. Methods/Materials The has encompassed 36 patients whose cancer samples peripheral blood were analyzed for the presence of promoter. detection K-ras codon 12 mutation performed by polymerase chain reaction restriction fragment length polymorphism technique. Analysis mononucleotide repeat variants -462T(15) -4T(12) capillary electrophoresis analysis DNA...
Background/Aim. Impaired fertility of a male partner is the main cause infertility in up to one half all infertile couples. At genetic level, can be caused by chromosome aberrations or gene mutations. The presence and types Y microdeletions cystic fybrosis transmembrane conductance regulator (CFTR) mutations as was tested Serbian men. aim this study analyze CFTR microdelations potential causes patients, well test hypothesis that men are predominantly located several last exons gene. Methods....
In recent years, many genes have been associated with male infertility; however, testing of monogenic forms has not yet clinically implemented in the diagnosis severe idiopathic infertility, as diagnostic utility established yet. The aim this study was therefore to answer if implementation genetic for infertility could contribute clinical men infertility. Based on ClinGene curation protocol, we defined a panel sufficient evidence involvement We tested 21-gene representative multicentric...
Introduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim study was to determine frequency in a group infertile men with an idiophatic infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection - ICSI) Serbia and correlate genotype-phenotype patients microdeletions. METHOD One hundred sixty low sperm count (less than 5x106 spermatozoa/ml) were enrolled study. Forty excluded...
The aim of this study was to analyze K-ras codon 12 mutation in the pancreatic tissue Serbian patients with cancer and assess whether given can be used as a molecular marker for disease. performed on samples obtained from 40 clinical diagnosis cancer. presence analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Our showed that is present high frequency (66%) pancretic
Background. Promoter hypermethylation of the SMAD4 gene has been registered in some cancer types, but general doesn?t appear to be a frequent event carcinogenesis. However, only few published studies deal with this topic and not many types have analyzed. The aim study was establish promoter methylation status pancreatic endometrial cancers. Methods. Patients included (62 subjects) were diagnosed surgically treated at University Belgrade, Clinical Center Serbia. carcinoma (17 underwent...
Myelodysplastic syndromes (MDS) are clonal hematologic stem cell disorders with an as yet unknown molecular pathology. Genetic instability has been proposed a cause of MDS. Mutations in the NBS1 gene, whose product nibrin (p95) is involved DNA damage repair and cell-cycle control, might be associated elevated predisposition to development The aim study was examine truncating 5 bp deletion (657del5), most frequent gene mutation Slavic populations, MDS patients. Among 71 patients, we found one...
Introduction: Thyroid gland cancer is a rare malignancy in the male population, accounting for up to 2% of all cancers, but it most common endocrine system, making 95% estimated new cases each year. Recent studies suggested an important role both environmental and genetic factors cancerogenesis. 3-Phosphoglycerate dehydrogenase (3-PHGDH) gene overexpression associated with pathogenesis human contributes cell proliferation. Aim: To asses association PHGDH polymorphism group patients thyroid...