A5009909770- Multiple Sclerosis Research Studies
- Prenatal Screening and Diagnostics
- Reproductive System and Pregnancy
- Cytokine Signaling Pathways and Interactions
- Nutrition, Genetics, and Disease
- Iron Metabolism and Disorders
- Pregnancy and preeclampsia studies
- Folate and B Vitamins Research
- Forensic and Genetic Research
- Forensic Anthropology and Bioarchaeology Studies
- Aquaculture Nutrition and Growth
- Celiac Disease Research and Management
- Genomic variations and chromosomal abnormalities
- Immunotherapy and Immune Responses
- Blood Coagulation and Thrombosis Mechanisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Protease and Inhibitor Mechanisms
- Congenital Anomalies and Fetal Surgery
- T-cell and B-cell Immunology
- Trace Elements in Health
- Molecular Biology Techniques and Applications
- Diabetes and associated disorders
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- Endometriosis Research and Treatment
University of Rijeka
2014-2024
Pediatrics and Genetics
2007-2008
Institute of Astronomy and Space Physics
1992
Physiologie de la Reproduction et des Comportements
1992
Inserm
1992
The genetic etiology and the contribution of rare variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms MS have described, no convincing penetrant variants reported to date. We aimed characterize sporadic identified a family with two sibs affected by concomitant malignant melanoma (MM). performed whole exome sequencing this primary 38 multiplex families 44 cases transcriptional immunologic assessment variants. potentially causative homozygous missense...
Prevalence of multiple sclerosis varies with geographic latitude. We hypothesized that this fact might be partially associated the influence latitude on circadian rhythm and consequently genetic variability key regulators, ARNTL CLOCK genes, contribute to risk for sclerosis. Our aim was analyse selected polymorphisms CLOCK, their association A total 900 Caucasian patients 1024 healthy controls were compared signature at 8 SNPs, 4 each both genes. found a statistically significant difference...
Craniometric variation in humans reflects different genetic and environmental influences. Long-term climatic adaptation is less likely to show an impact on size shape a small local area than at the global level.The aim of this work was assess contribution particular factors body height craniofacial variability geographic Croatia.A total 632 subjects, aged 18-21, participated survey. Body height, head length, breadth, circumference, cephalic index, morphological face facial index were...
Lung cancer is a complex disease, and many factors, including environmental occupational exposure, cigarette smoking, genetics, contribute to its progression. Angiotensin-converting enzyme (ACE) an important regulator of blood pressure cardiovascular homeostasis. Plasma levels ACE depend on insertion/deletion (I/D) polymorphism in gene. Current correlation data between lung the I/D are contradictory or insufficient. We investigated whether associated with risk for development Croatian...
Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. Numerous studies sustain a causal link between global DNA hypomethylation and genetic instability. It has been suggested that might affect the structure dynamics of chromatin regions are critical for chromosome stability segregation, thus favouring meiosis. Maternal not yet analyzed potential risk factor 21 nondisjunction. This study aimed to asses DS in association with maternal...
Abstract An investigation of body height and cephalic measurements was performed among five groups first‐year medical students the University Rijeka School Medicine (Rijeka, Croatia). Body different showed normal distribution, both in male female students. Differences between measured variables were statistically analyzed by ANOVA. No significant difference with regard to year birth found either males or females. The index no sexes height, while head breadth length correlated significantly...
Abstract A secular change of body height and neurocranial variables was registered in the Croatian population during last century. We investigated continuity this process, introduced facial measurements into study. The results cover a 13‐year period, from birth subjects 1974–1986, with gap period 1977–1981. were first‐year students University Rijeka School Medicine, aged 19–21 years. Secular changes evaluated by analysis variance multivariate regression analysis. statistically significant...
Problem Recurrent spontaneous abortion (RSA) is a common clinical problem with complex etiology of genetic and non‐genetic causes, which remains to be fully determined. IGF‐2 stimulates trophoblast invasion, proliferation maturation placenta, while H19 RNA suppresses growth. As genomic imprinting plays critical role in the development placenta embryo, our aim was evaluate possible variations imprinted genes as factors predisposition for RSA. Method study A case–control conducted determine...
Langer-Giedion syndrome (LGS) is a contiguous gene caused by hemizygous deletion on chromosome 8q23.3-q24.11 involving TRPS1 and EXT1 genes. We report girl with LGS phenotype 7.5 Mb interstitial at 8q23.3-q24.13. Array-comparative genomic hybridization (a-CGH) revealed encompassing only the not gene. Even though of genes responsible for craniofacial skeletal features LGS, there have been previous reports patients 8q24 deletions leaving intact. To our knowledge, this third such case. Our...
Interleukin (IL) IL-12/IL-18 are involved in uterine NK cells control of vascular development. Polymorphisms the genes could modify cytokine balance, which might result an increased susceptibility to recurrent spontaneous abortion (RSA).A case-control study was conducted determine association between IL12 (I/D) and IL18 (-607C>A, -137G>C) gene polymorphisms risk RSA 125 women with 136 controls.The frequencies DD, ID, II for IL-12 were, 25.6%, 52.8% 21.6% respectively, patients versus 21.3%,...
Objectives The research objective of this study is to enlarge and deepen the Y chromosome on Croatian population enable additional insights into diversity historic events that shaped current genetic landscape Croatia Southeastern Europe (SEE). Materials Methods A high‐resolution phylogenetic phylogeographic analysis 66 biallelic (SNPs) 17 microsatellite (STRs) markers was performed using 720 samples. obtained results were placed in a wider European context by comparison with ∼4450 samples...
PROBLEM: The objective of this study was to evaluate the contribution chromosomal anomalies decreased fertility in humans. METHOD OF STUDY: In order investigate aetiology infertility our population and assess karyotype a group infertile couples individuals with problems, 782 persons (259 couples, 158 male 106 female) different clinical diagnoses sterility were analysed cytogenetically. RESULTS: overall frequency major aberration 13.1% (103/783), which suggests that or problems are due...
Previous findings regarding the role of TNF-α-308 gene polymorphism in multiple sclerosis (MS) are contradictory. The aim this study was to investigate possible influence on MS susceptibility and disease process a Croatian Slovenian population. Genotyping performed 338 patients 460 healthy controls. TNF2 allele present 123 (26.8%) controls vs. 67 (19.9%) (p = 0.023, odds ratio 0.68, 95% confidence interval 0.48–0.95), suggesting that carriage might decrease risk. difference carrier frequency...
The aim of this study was to investigate the association functional MMP-1-1607 1G/2G and MMP-9-1562 C/T gene polymorphisms with spontaneous preterm birth (SPTB; intact membranes) in European Caucasian women, as well contribution these different clinical features women SPTB. A case-control conducted 113 SPTB 119 term delivery (control group). Genotyping performed using combination polymerase chain reaction restriction fragment length polymorphism methods. There were no statistically...