Search results for "Variants"
showing 10 items of 227 documents
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
2014
Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen re…
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
2013
Author version made available in accordance with the publisher's policy.
Development and validation of RP-HPLC method for the quantitative estimation of αs1-genetic variants in goat milk
2013
A high-performance liquid chromatographic (HPLC) method was developed and validated for separation and quantification of the most common genetic variants of as1-casein in goat’s milk, to evaluate the effect of as1-casein polymorphisms on casein content. Chromatography was carried out by binary gradient technique on a reversed-phase C8 Zorbax column and the detection was made at a wavelength of 214 nm. The procedure was developed using individual raw milk samples of Girgentana goats. For calibration experiments, pure genetic variants were extracted from individual milk samples of animals with known genotypes, considering that commercial standards for goat genetic variants were not available.…
Diagnostic algorithm for familial chylomicronemia syndrome
2016
International audience; Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. Methods: Aiming to def…
THE TOPOLOGY OF BASIN BOUNDARIES IN A CLASS OF THREE-DIMENSIONAL DYNAMICAL SYSTEMS
1996
We will develop new methods to determine the topology of the basin boundary in a class of three-dimensional dynamical systems. One approach is to approximate the basin boundary by backward integration. Unfortunately, there are dynamical systems where it is hard to approximate the basin boundary by a numerical backward integration algorithm. We will introduce topological methods which will provide new information about the structure of the basin boundary. The topological invariants which we will use can be numerically computed.
On closures of discrete sets
2018
The depth of a topological space $X$ ($g(X)$) is defined as the supremum of the cardinalities of closures of discrete subsets of $X$. Solving a problem of Mart\'inez-Ruiz, Ram\'irez-P\'aramo and Romero-Morales, we prove that the cardinal inequality $|X| \leq g(X)^{L(X) \cdot F(X)}$ holds for every Hausdorff space $X$, where $L(X)$ is the Lindel\"of number of $X$ and $F(X)$ is the supremum of the cardinalities of the free sequences in $X$.
Central polynomials and matrix invariants
1996
LetK be a field, charK=0 andM n (K) the algebra ofn×n matrices overK. If λ=(λ1,…,λ m ) andμ=(μ 1,…,μ m ) are partitions ofn 2 let $$\begin{gathered} F^{\lambda ,\mu } = \sum\limits_{\sigma ,\tau \in S_n 2} {\left( {\operatorname{sgn} \sigma \tau } \right)x_\sigma (1) \cdot \cdot \cdot x_\sigma (\lambda _1 )^{y_\tau } (1)^{ \cdot \cdot \cdot } y_\tau (\mu _1 )^{x\sigma } (\lambda _1 + 1)} \hfill \\ \cdot \cdot \cdot x_\sigma (\lambda _1 + \lambda _2 )^{y_\tau } (\mu _1 ^{ + 1} )^{ \cdot \cdot \cdot y_\tau } (\mu _1 + \mu _2 ) \hfill \\ \cdot \cdot \cdot x_\sigma (\lambda _1 + \cdot \cdot \cdot + \lambda _{\mu - 1} ^{ + 1} ) \hfill \\ \cdot \cdot \cdot x_\sigma (n^2 )^{y_\tau } (\mu _1 ^{ + \…
Boolean Networks: A Primer
2021
Abstract Autism Spectrum Disorders (ASDs) stand out as a relevant example where omics-data approaches have been extensively and successfully employed. For instance, an outstanding outcome of the Autism Genome Project relies in the identification of biomarkers and the mapping of biological processes potentially implicated in ASDs’ pathogenesis. Several of these mapped processes are related to molecular and cellular events (e.g., synaptogenesis and synapse function, axon growth and guidance, etc.) that are required for the development of a correct neuronal connectivity. Interestingly, these data are consistent with results of brain imaging studies of some patients. Despite these remarkable pr…
Prevalence of anatomical variants and coronary anomalies in 543 consecutive patients studied with 64-slice CT coronary angiography
2008
The aim of our study was to assess the prevalence of variants and anomalies of the coronary artery tree in patients who underwent 64-slice computed tomography coronary angiography (CT-CA) for suspected or known coronary artery disease. A total of 543 patients (389 male, mean age 60.5 +/- 10.9) were reviewed for coronary artery variants and anomalies including post-processing tools. The majority of segments were identified according to the American Heart Association scheme. The coronary dominance pattern results were: right, 86.6%; left, 9.2%; balanced, 4.2%. The left main coronary artery had a mean length of 112 +/- 55 mm. The intermediate branch was present in the 21.9%. A variable number …