Search results for "Variant"

3D SINGLETONS AND THEIR BOUNDARY 2D CONFORMAL FIELD THEORY

1999

This paper is a continuation of recent work of Flato and Frønsdal on singletons in 1+2 anti De Sitter universe and their link with 2D conformal field theories on the boundary. More specifically we show that in this framework we can construct a 3D-singleton model in the bulk, the limit of which on the boundary of De Sitter space is a Gupta–Bleuler triplet for two commuting copies of the Witt algebra. We also generalize this result to the case of WZNW models.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.

2021

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…

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…

Prothrombotic variants in elderly

2009

Real-time detection of BRAF V600E mutation from archival hairy cell leukemia FFPE tissue by nanopore sequencing

2018

The MinION is a miniaturized high-throughput next generation sequencing platform of novel conception. The use of nucleic acids derived from formalin-fixed paraffin-embedded samples is highly desirable, but their adoption for molecular assays is hurdled by the high degree of fragmentation and by the chemical-induced mutations stemming from the fixation protocols. In order to investigate the suitability of MinION sequencing on formalin-fixed paraffin-embedded samples, the presence and frequency of BRAF c.1799T > A mutation was investigated in two archival tissue specimens of Hairy cell leukemia and Hairy cell leukemia Variant. Despite the poor quality of the starting DNA, BRAF mutation was su…

Antiproton over proton and K$^-$ over K$^+$ multiplicity ratios at high $z$ in DIS

2020

The $\bar{\rm p} $ over p multiplicity ratio is measured in deep-inelastic scattering for the first time using (anti-) protons carrying a large fraction of the virtual-photon energy, $z>0.5$. The data were obtained by the COMPASS Collaboration using a 160 GeV muon beam impinging on an isoscalar $^6$LiD target. The regime of deep-inelastic scattering is ensured by requiring $Q^2$ > 1 (GeV/$c$)$^2$ for the photon virtuality and $W > 5$ GeV/$c^2$ for the invariant mass of the produced hadronic system. The range in Bjorken-$x$ is restricted to $0.01 < x < 0.40$. Protons and antiprotons are identified in the momentum range $20 ��60$ GeV/$c$. In the whole studied $z$-region, the $\…

$$O_2(\mathbb {C})$$O2(C)-Vector Bundles and Equivariant Real Circle Actions

2020

The main goal of this article is to give an expository overview of some new results on real circle actions on affine four-space and their relation to previous results on \(O_2(\mathbb {C})\)-equivariant vector bundles. In Moser-Jauslin (Infinite families of inequivalent real circle actions on affine four-space, 2019, [13]), we described infinite families of equivariant real circle actions on affine four-space. In the present note, we will describe how these examples were constructed, and some consequences of these results.

A constructive approach of invariants of behavior laws with respect to an infinite symmetry group – Application to a biological anisotropic hyperelas…

2014

Abstract In this paper, six new invariants associated with an anisotropic material made of one fiber family are calculated by presenting a systematic constructive and original approach. This approach is based on the development of mathematical techniques from the theory of invariants: • Definition of the material symmetry group. • Definition of the generalized Reynolds Operator. • Calculation of an integrity basis for invariant polynomials. • Comparison between the new (constructed) invariants and the classical ones.

Singular quadratic Lie superalgebras

2012

In this paper, we give a generalization of results in \cite{PU07} and \cite{DPU10} by applying the tools of graded Lie algebras to quadratic Lie superalgebras. In this way, we obtain a numerical invariant of quadratic Lie superalgebras and a classification of singular quadratic Lie superalgebras, i.e. those with a nonzero invariant. Finally, we study a class of quadratic Lie superalgebras obtained by the method of generalized double extensions.