Search results for "polymorph"
showing 10 items of 2115 documents
Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…
2008
Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
2001
BACKGROUNDHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR.METHODSWe examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of …
Mitochondrial and chromosomal DNA alterations in human chromophobe renal cell carcinomas
1992
Renal cell tumours are characterized by the loss of chromosome 3p and trisomy of 5q segments (common, non-papillary renal cell carcinoma), or by trisomy of chromosomes 7 and 17 and loss of the Y chromosome (papillary renal cell carcinoma), or by random karyotype changes and mitochondrial DNA alterations (renal oncocytoma). We have studied by means of RFLP analysis the genomic and mitochondrial DNA in 11 chromophobe renal cell carcinomas, which have a unique morphology among kidney cancers. We found a loss of the constitutional heterozygosity at chromosomal regions 3p, 5q, 17p, and 17q, a combination of allelic losses that has not been found in other types of renal cell tumours. Three of the…
Characterization of a Computerized Assay for Rapid and Easy Determination of Leukocyte Adhesion to Endothelial Cells
2005
We report on a facile and rapid computerized in-vitro assay for the quantification of leukocyte adhesion to endothelial cells under static conditions using bovine polymorphonuclear neutrophils (PMN) or human leukaemic Mono Mac 6 cells (MM6) and bovine aorta endothelial cells (BAEC). Images of leukocytes adherent to BAEC monolayers grown in microtiter plates were obtained by a digital camera attached to a conventional microscope and transferred to the public domain NIH ImageJ program for analysis. Using individually adapted program routines adherent leukocytes are easily discriminated and reproducibly quantified. The results obtained with our assay correspond to previous findings and demonst…
PHC-025 Single Nucleotide Polymorphisms Associated with Adverse Events in Taxane-Treated Breast Cancer Patients
2013
Background Inter-individual differences in drug efficacy and toxicity are linked, in many cases, to single nucleotide polymorphisms (SNPs) in genes coding for drug metabolising enzymes and transporters. Taxanes are active for several tumour types, including breast cancer. But this is limited by adverse events such as neurotoxicity and haematological toxicity. Purpose To evaluate the associations between a panel of 92 SNPs in 33 genes and adverse events developed by breast cancer patients treated with taxanes. Materials and Methods Between June 2011 and May 2012 breast cancer patients treated with taxanes who gave informed consent were genotyped for 92 SNPs in 33 genes. Genomic DNA was analy…
Abstracts of the 3rd Joint Meeting of Pathology and Laboratory Medicine
2016
Background: Degenerative forms of mitral valve diseases (MVDs) are complex pathologies. Thus, it is difficult to make generalizations about MVD pathways or genetic risk factors. However, a key role of metalloproteinases (MMPs) in their pathophysiology is emerging. Thus, we performed a study to assess eventual associations of some functional SNPs in MMP-2 and MMP-9 genes with MVD risk, symptom severity and short- and long-term (4.8 years) complications. Methods: For this purpose, 90 patients and two control groups were genotyped for MMP-2 and MMP-9 gene SNPs, and systemic levels of proatrial natriuretic peptide (ANP), and two enzymes were quantified and correlated to the MMP-2 and MMP-9 SNPs…
Studies on bucephalid digeneans parasitising molluscs and fishes in Finland I. Ecological data and experimental studies
1991
Two types of bucephalid cercariae are reported from the bivalve Anodonta anatina in two Finnish lakes. One, Type A, resembles in gross morphology the cercaria of Bucephalus polymorphus, and the other, Type B, resembles the cercaria of Rhipidocotyle campanula. Type A daughter-sporocysts develop more slowly, have a greater cercarial productivity and exhibit a differential diurnal rhythm to that of Type B. Cercariae of Type A have a shorter longevity than Type B and tend to encyst in the fins rather than the gill-arches of fish intermediate hosts. The main definitive host of Type A is pike Esox lucius and, in the case of Type B, perch Perca fluviatilis. Adults of Types A and B are morphologica…
An innovative way to highlight the power of each polymorphism on the elite athletes phenotype expression
2015
The purpose of this study was to determine the probability of soccer players having the best genetic background that could increase performance, evaluating the polymorphism that are considered Performance Enhancing Polymorphism (PEPs) distributed on five genes: PPARα, PPARGC1A, NRF2, ACE e CKMM. Particularly, we investigated how each polymorphism works directly or through another polymorphism to distinguish elite athletes from non-athletic population. Materials And Methods. Sixty professional soccer players (age 22.5 ± 2.2) and sixty healthy volunteers (age 21.2± 2.3) were enrolled. Samples of venous blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP pr…
An innovative way to highlight the power of each polymorphism on elite athletes phenotype expression
2017
The purpose of this study was to determine the probability of soccer players having the best genetic background that could increase performance, evaluating the polymorphism that are considered Performance Enhancing Polymorphism (PEPs) distributed on five genes: PPAR alpha, PPARGC1A, NRF2, ACE e CKMM. Particularly, we investigated how each polymorphism works directly or through another polymorphism to distinguish elite athletes from non-athletic population. Sixty professional soccer players (age 22.5 +/- 2.2) and sixty healthy volunteers (age 21.2 +/- 2.3) were enrolled. Samples of venous blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP protocols with …