Search results for "Indel"
showing 10 items of 72 documents
A common extension of Arhangel'skii's Theorem and the Hajnal-Juhasz inequality
2019
AbstractWe present a result about $G_{\unicode[STIX]{x1D6FF}}$ covers of a Hausdorff space that implies various known cardinal inequalities, including the following two fundamental results in the theory of cardinal invariants in topology: $|X|\leqslant 2^{L(X)\unicode[STIX]{x1D712}(X)}$ (Arhangel’skiĭ) and $|X|\leqslant 2^{c(X)\unicode[STIX]{x1D712}(X)}$ (Hajnal–Juhász). This solves a question that goes back to Bell, Ginsburg and Woods’s 1978 paper (M. Bell, J.N. Ginsburg and R.G. Woods, Cardinal inequalities for topological spaces involving the weak Lindelöf number, Pacific J. Math. 79(1978), 37–45) and is mentioned in Hodel’s survey on Arhangel’skiĭ’s Theorem (R. Hodel, Arhangel’skii’s so…
Variations on Weyl's theorem
2006
AbstractIn this note we study the property (w), a variant of Weyl's theorem introduced by Rakočević, by means of the localized single-valued extension property (SVEP). We establish for a bounded linear operator defined on a Banach space several sufficient and necessary conditions for which property (w) holds. We also relate this property with Weyl's theorem and with another variant of it, a-Weyl's theorem. We show that Weyl's theorem, a-Weyl's theorem and property (w) for T (respectively T*) coincide whenever T* (respectively T) satisfies SVEP. As a consequence of these results, we obtain that several classes of commonly considered operators have property (w).
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
2019
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural ne…
The landscape of epilepsy-related GATOR1 variants
2019
Purpose:\ud \ud To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway.\ud \ud Methods:\ud \ud We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.\ud \ud Results:\ud \ud The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia…
Detection and clinical implications of a novel BCR-ABL1 E12A2 insertion/deletion in a CML patient expressing the E13A2 isoform
2019
Background/Aim: The Philadelphia chromosome is the most frequent cytogenetic abnormality in chronic myelogenous (CML). More than 95% of CML patients are diagnosed with the e13a2 or e14a2 BCR-ABL1 fusion transcripts while, in about 1% of these individuals, the break generates the e1a2 rearrangement. Furthermore, about 5% of CML patients are diagnosed with rare BCR-ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3 and e6a2. However, there is limited evidence concerning the clinical and prognostic implications of these infrequent oncogenic variants for CML patients receiving tyrosine kinase inhibitors (TKIs). Case Report: We describe a novel atypical e12a2 insertion/deletion (In…
Association between neonatal temperament,SLC6A4,DRD4and a functional polymorphism located inTFAP2B
2011
Genetic studies on human personality have provided little satisfactory results to date mainly because of the complexity of this trait. Neonatal temperament using observational measures is an alternative phenotype to approach genetics to human behavior. An association study was conducted on 117 Caucasian newborns. Their temperament was evaluated using the Neonatal Behavior Assessment Scale 48 h after birth. Thirteen polymorphisms in the SLC6A4, DRD4 and TFAP2B genes were genotyped. Linear regression was performed to analyze data, and Bonferroni correction was applied. To check the functional effect of the TFAP2B Indel Intron 2 polymorphism, reporter gene luciferase assays using a mouse corti…
Gain of MYCN region in a Wilms tumor-derived xenotransplanted cell line.
2010
Wilms tumor is one of the most common pediatric malignant tumors of the kidney. Although the WT1 gene, located at 11p13, has been proven to be implicated in the development of Wilms tumor, other genes such as MYCN are also involved. The purpose of this study is to genetically characterize a Wilms tumor metastasis xenotransplanted in nude mice. Immunogenotype evolution of the xenografts material was monitored for 29 months using molecular techniques, fluorescent in situ hybridization and multiplex ligation-dependent probe amplification, in addition to immunohistochemistry in tissue microarrays. Genetic alterations present in the original tumor and retained in the xenotransplanted tumor were …
P-spaces and the Whyburn property
2009
We investigate the Whyburn and weakly Whyburn property in the class of $P$-spaces, that is spaces where every countable intersection of open sets is open. We construct examples of non-weakly Whyburn $P$-spaces of size continuum, thus giving a negative answer under CH to a question of Pelant, Tkachenko, Tkachuk and Wilson. In addition, we show that the weak Kurepa Hypothesis (a set-theoretic assumption weaker than CH) implies the existence of a non-weakly Whyburn $P$-space of size $\aleph_2$. Finally, we consider the behavior of the above-mentioned properties under products; we show in particular that the product of a Lindel\"of weakly Whyburn P-space and a Lindel\"of Whyburn $P$-space is we…
Temporal and spatial diversification of the African disjunct genus Androcymbium (Colchicaceae)
2009
Abstract The genus Androcymbium (Colchicaceae) includes 57 species that are distributed in the extreme northern and southern portions of Africa, mainly in regions with a Mediterranean climate. We present the first phylogeographic analysis of the genus with species from all five of its distribution areas (North Africa, Horn of Africa, Namibia, western South Africa, and eastern South Africa). We used sequence data from six chloroplast regions and one nuclear region. Phylogeographic reconstructions were conducted using both parsimony and Bayesian inference methods. Molecular dating estimates using a Bayesian approach suggest a middle Miocene (13.4 ± 1.5 mya) origin of the genus; this approach …
Nuclear rDNA pseudogenes in Chagas disease vectors: Evolutionary implications of a new 5.8S+ITS-2 paralogous sequence marker in triatomines of North,…
2013
A pseudogene, paralogous to rDNA 5.8S and ITS-2, is described in Meccus dimidiata dimidiata, M. d. capitata, M. d. maculippenis, M. d. hegneri, M. sp. aff. dimidiata, M. p. phyllosoma, M. p. longipennis, M. p. pallidipennis, M. p. picturata, M. p. mazzottii, Triatoma mexicana, Triatoma nitida and Triatoma sanguisuga, covering North America, Central America and northern South America. Such a nuclear rDNA pseudogene is very rare. In the 5.8S gene, criteria for pseudogene identification included length variability, lower GC content, mutations regarding the functional uniform sequence, and relatively high base substitutions in evolutionary conserved sites. At ITS-2 level, criteria were the shor…