A5004118824- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- dental development and anomalies
- Oral and Maxillofacial Pathology
- Hepatitis C virus research
- Folate and B Vitamins Research
- Hepatitis B Virus Studies
- Vitamin D Research Studies
- Liver Disease Diagnosis and Treatment
- Endometriosis Research and Treatment
- Paraoxonase enzyme and polymorphisms
- Congenital Ear and Nasal Anomalies
- Parathyroid Disorders and Treatments
- Apelin-related biomedical research
- Cancer-related gene regulation
- Diet and metabolism studies
- Dialysis and Renal Disease Management
- Epigenetics and DNA Methylation
- Pancreatitis Pathology and Treatment
- Genomic variations and chromosomal abnormalities
- Reproductive System and Pregnancy
- Hedgehog Signaling Pathway Studies
- Birth, Development, and Health
- Bone and Dental Protein Studies
- Hormonal Regulation and Hypertension
Poznan University of Medical Sciences
2014-2023
Heliodor Swiecicki Clinical Hospital
2006-2023
University of Iowa
2007-2009
The Declaration of Helsinki is a set ethical principles to be followed by scientists involved in medical research with humans or human cells and tissues. This defines how scientific should planned, carried out, documented, analysed, published.
 We summarise discuss some issues related publishing original articles, including clinical trials, review papers, case reports based on the seventh revision Helsinki.
 refer most strongly publication results, particular as articles. Such...
The aetiology of non-syndromic cleft lip with or without palate (CL/P) is very complex. It has been shown that polymorphic variants genes encoding key proteins folate and methionine metabolism might be important maternal risk factors having a child this craniofacial anomaly. Therefore, in our study, mothers CL/P children as well control were examined for prevalence polymorphisms encode methylenetetrahydrofolate reductase (MTHFR), synthase (MTR), 5,10-methylenetetrahydrofolate dehydrogenase,...
Cleft lip with or without cleft palate (CL/P) is one of the most common craniofacial malformations, a complex and multifactorial etiology. Because genetic heterogeneity facial clefts, aim this study was to investigate contribution previously reported candidate genes chromosomal loci risk CL/P in Polish population.We performed an analysis 18 polymorphisms FOXE1, IRF6, MSX1, PAX9, TBX10, FGF10, FGFR1, TGFalpha, TGFbeta3, SUMO1, region 8q24 group 175 patients properly matched control...
Tooth agenesis is one of the most common dental anomalies, with a complex and not yet fully elucidated aetiology. Given crucial role Wnt signalling pathway during tooth development, purpose this study was to determine whether nucleotide variants genes encoding components might be associated hypodontia oligodontia in Polish population. A set 34 single polymorphism ( SNPs ) 13 WNT WNT‐related were analyzed group 157 patients properly matched control n = 430). In addition, direct sequencing...
Recently, several studies have demonstrated the role of vitamin D receptor (VDR) polymorphisms in development systemic lupus erythematosus (SLE); however, these results are inconsistent between different cohorts. Therefore, we studied prevalence VDR FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236) genotypes alleles SLE patients (n = 258) healthy individuals 545) a Polish population. We did not observe significant differences for either FokI, BsmI, genotype allele...
Tooth development is regulated through a series of reciprocal interactions between the dental epithelium and mesenchyme requires protein products number genes. It has been reported that selective tooth agenesis associated with mutations in human MSX PAX9 Mutational analysis two genes was performed 25 individuals familial or sporadic form permanent agenesis. Single‐stranded conformational polymorphism revealed no entire coding sequence MSX1 gene. In , novel, heterozygous G151A transition...
<h3>Background</h3> Non-syndromic isolated cleft lip with or without palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which complex and associated both genetic environmental factors. It has been reported that maternal nutritional factors are likely to play major role development NCL/P embryo. <h3>Objective</h3> As mechanism by folic acid choline supplementation prevents poorly understood, relationship between 16 polymorphic variants 12 genes encoding enzymes involved...
Abstract BACKGROUND: Genome‐wide association studies are now used routinely to identify genes implicated in complex traits. The panels for such analyses can detect single nucleotide polymorphisms and copy number variants, both of which may help small deleted regions the genome that contribute a particular disease. METHODS: We performed candidate gene analysis involving 1,221 SNPs 333 orofacial clefting, using 2,823 samples from 725 two‐ three‐generation families with proband having cleft lip...
Mostowska A, Hozyasz KK, Biedziak B, Wojcicka P, Lianeri M, Jagodzinski PP. Genotype and haplotype analysis of WNT genes in non‐syndromic cleft lip with or without palate. Eur J Oral Sci 2012; 120: 1–8. © 2012 The wingless‐type MMTV integration site family (Wnt) signalling pathway plays a crucial role craniofacial development. Recently, nucleotide variants have been shown to be associated oral congenital anomalies, including facial clefts. Therefore, the current study we decided assay...
Studies have demonstrated that changes in DNA methylation of cancer related genes can be an elementary process accounting for ovarian tumorigenesis. Therefore, we evaluated the possible association single nucleotide polymorphisms (SNPs) methyltransferases (DNMTs) genes, including DNMT1, DNMT3B, and DNMT3A, with development Polish population. Using PCR-RFLP HRM analyses, studied prevalence DNMT1 rs8101626, rs2228611 rs759920, DNMT3A rs2289195, 7590760, rs13401241, rs749131 rs1550117, DNMT3B...
Orofacial clefts are among the most common birth defects and result in an improper formation of mouth or roof mouth. Monosomy distal aspect human chromosome 6p has been recognized as causative congenital malformations affecting brain cranial skeleton including orofacial clefts. Among genes located this region is PAK1IP1, which encodes a nucleolar factor involved ribosomal stress response. Here, we report identification novel mouse line that carries point mutation Pak1ip1 gene. Homozygous...
The Wnt/β-catenin signaling pathway has been considered to be a factor in the development and progression of ovarian cancer.All patients with cancer controls were tested for BRCA1 mutations (5382incC, C61G, 4153delA) HybProbe assays BRCA2 mutation (5946delT) using high-resolution melting curve analysis (HRM). Mutation carriers excluded from association analysis. We studied nine single nucleotide polymorphisms (SNPs) located CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771,...
Non-syndromic cleft lip with or without palate (nsCL/P) is a common craniofacial anomaly complex and heterogeneous aetiology. Knowledge regarding specific genetic factors underlying this birth defect still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within DLG1 locus at chromosome 3q29, which was identified as novel cleft-susceptibility in our genome-wide association study (GWAS). Mega-analysis of pooled individual...
Two single nucleotide polymorphisms (SNPs) of the VEGF gene, rs699947 and rs2010963, are responsible for differentiated gene expression. A mutual dependence between leptin serum level has been observed. This study investigated associations rs2010963 SNPs VEGF-A, concentrations, cardiometabolic risk body mass excess. In this case-control study, 212 subjects with excess 145 normal-weight controls gave blood samples underwent anthropometric pulse wave analysis. Genotyping was carried out to...
Large differences in relation to dental size, number, and morphology among within modern human populations between humans other primate species have been observed. Molecular studies demonstrated that tooth development is under strict genetic control, but, the basis of variation remains unknown. The PAX9 gene, which codes for a paired domain-containing transcription factor plays an essential role mammal dentition, has associated with selective agenesis mice, mainly involves posterior teeth....
It has recently been reported that vitamin D blood plasma levels are associated with reduced risk of endometriosis. The present study aimed to investigate whether the binding protein (GC), receptor (VDR), and retinoid X (RXR) gene variants may be genetic factors for endometriosis‑associated infertility. subjects consisted 154 women infertility 347 controls. Using polymerase chain reaction restriction fragment length polymorphism high resolution melt techniques, GC rs1155563, rs2298849...
Paraoxonase 1 (PON1) is known for preventing atherosclerosis through lipid-modifying features, antioxidant activity, anti-inflammatory, anti-apoptosis, anti-thrombosis, and anti-adhesion properties. Uremic patients requiring haemodialysis (HD) are especially prone to its complications. We analysed the PON1 gene polymorphisms serum (paraoxonase) activity concerning dyslipidaemia related cardiovascular diseases mortality show how they associate under uremic conditions modified by maintenance...