Search results for "Variants"
showing 10 items of 227 documents
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
2011
Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…
Pancreatic undifferentiated carcinoma with osteoclast-like giant cells is genetically similar to, but clinically distinct from, conventional ductal a…
2017
Undifferentiated carcinoma of the pancreas with osteoclast-like giant cells (UCOGC) is currently considered a morphologically and clinically distinct variant of pancreatic ductal adenocarcinoma (PDAC). In this study, we report clinical and pathological features of a series of 22 UCOGCs, including the whole exome sequencing of eight UCOGCs. We observed that 60% of the UCOGCs contained a well-defined epithelial component and that patients with pure UCOGC had a significantly better prognosis than did those with an UCOGC with an associated epithelial neoplasm. The genetic alterations in UCOGC are strikingly similar to those known to drive conventional PDAC, including activating mutations in the…
ANATOMICAL VARIATIONS OF THE SPHENOID SINUS ASSESSED WITH MDCT
2009
Background The aim of this study was to assess the incidence of the anatomical variations of the sphenoid sinus in 293 patients studied by multidetector computed tomography (MDCT). Materials and Methods The MDCT (64 rows) studies of the paranasal sinuses of 293 patients, performed in 2006-2009, were reviewed to assess anatomical variations of the sphenoid sinus and related neurovascular structures. Anatomical variations were evaluated on 1 mm thick MPR reformations, displayed on a high resolution workstation screen. Pneumatization of the anterior clinoid process (ACP), pterygoid recess (PR), protrusion of the internal carotid artery (ICA), optic nerve (ON), maxillary and vidian nerve into t…
Topological Hamiltonian as an exact tool for topological invariants
2012
We propose the concept of `topological Hamiltonian' for topological insulators and superconductors in interacting systems. The eigenvalues of topological Hamiltonian are significantly different from the physical energy spectra, but we show that topological Hamiltonian contains the information of gapless surface states, therefore it is an exact tool for topological invariants.
A pipeline for variants discovery using next-generation DNA sequencing data
2017
Recent advances in next generation sequencing (NGS) technology provide a cost-effective approach to large-scale resequencing of livestock samples in order to study several biological phenomena. NGS produces millions of short DNA sequences that require an unbiased way to make possible comprehensive searches for variation to identify putative causative mutations for economically important traits. The aim of this work was to present a bioinformatics pipeline analysis for variants discovery in ovine genome. A total of 30 individuals belonging to Valle del Belice dairy ewes was used for whole genome sequencing of pooled libraries prepared using Illumina Nextera Kit. Paired-end sequencing was car…
Defining relations of the noncommutative trace algebra of two 3×3 matrices
2006
The noncommutative (or mixed) trace algebra $T_{nd}$ is generated by $d$ generic $n\times n$ matrices and by the algebra $C_{nd}$ generated by all traces of products of generic matrices, $n,d\geq 2$. It is known that over a field of characteristic 0 this algebra is a finitely generated free module over a polynomial subalgebra $S$ of the center $C_{nd}$. For $n=3$ and $d=2$ we have found explicitly such a subalgebra $S$ and a set of free generators of the $S$-module $T_{32}$. We give also a set of defining relations of $T_{32}$ as an algebra and a Groebner basis of the corresponding ideal. The proofs are based on easy computer calculations with standard functions of Maple, the explicit prese…
A new constructive method using the theory of invariants to obtain material behavior laws
2006
International audience; The aim of this paper is to present a constructive method to derive mechanical behavior laws using the Theory of Invariants and Continuum Thermodynamics. More precisely, we want to construct, in a general way, the state or dissipation potential in a polynomial form given a set of variables V and the material symmetry group S. For this purpose, we show how to obtain a set of generators for the S-invariant polynomials of V. Then, using the Grœbner basis concept, we write all the decompositions of a polynomial of a given degree.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
RNA-binding ability of PIPP in requires the entire protein
2003
Post-transcriptional fate of eukaryotic mRNAs depends on association with different classes of RNA-binding proteins (RBPs). Among these proteins, the cold-shock domain (CSD)-containing proteins, also called Y-box proteins, play a key role in controlling the recruitment of mRNA to the translational machinery, in response to environmental cues, both in development and in differentiated cells. We recently cloned a rat cDNA encoding a new CSD-protein that we called PIPPin. This protein also contains two putative double-stranded RNA-binding motifs (PIP(1) and PIP(2)) flanking the central CSD, and is able to bind mRNAs encoding H1 degrees and H3.3 histone variants. In order to clarify the role of…