Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Cheaters in mutualism networks

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Chromosomal location of heterochromatin and 45S rDNA sites in four South American triatomines (Heteroptera: Reduviidae)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Intersubband plasmon-phonon modes in quantum wires at high temperatures

Coupled intersubband plasmon-phonon modes are studied in a multisubband parabolic quantum wire at room temperatures. These modes are found by calculating the spectral weight function which is related to the inelastic Raman spectra. We use a 13 subband model. The plasmon-phonon coupling strongly modifies the dispersion relation of the intersubband modes in the vicinity of the optical phonon frequency omega(LO). Extra modes show up as a result of the electron-phonon interaction. We carefully study the density and temperature dependence of these extra modes. We also show that coupled intersubband plasmon-phonon modes should be observed for temperatures as high as 300 K.

Comment on Effect of spin-orbit interaction on the plasma excitations in a quantum wire

We comment on the recent results [Phys. Rev. B 70, 235314 (2004)] showing the dispersion relations of single-particle and collective excitations in quantum wires in the presence of the Rashba spin-orbit interaction (SOI). We claim that those calculations performed in the absence of SOI, and used as a strong reference to the interacting case, are unlikely to be correct. We show the correct omega-q plane of the system in the absence of Rashba SOI.

Solitary waves on a free surface of a heated Maxwell fluid

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for heavy long-lived charged particles in pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Cubic interactions and quantum criticality in dimerized antiferromagnets

In certain Mott-insulating dimerized antiferromagnets, triplet excitations of the paramagnetic phase display both three-particle and four-particle interactions. When such a magnet undergoes a quantum phase transition into a magnetically ordered state, the three-particle interaction becomes part of the critical theory provided that the lattice ordering wave vector is zero. One microscopic example is the staggered-dimer antiferromagnet on the square lattice, for which deviations from O(3) universality have been reported in numerical studies. Using both symmetry arguments and microscopic calculations, we show that a nontrivial cubic term arises in the relevant order-parameter quantum field theory, and we assess its consequences using a combination of analytical and numerical methods. We also present finite-temperature quantum Monte Carlo data for the staggered-dimer antiferromagnet which complement recently published results. The data can be consistently interpreted in terms of critical exponents identical to that of the standard O(3) universality class, but with anomalously large corrections to scaling. We argue that the cubic interaction of critical triplons, although irrelevant in two spatial dimensions, is responsible for the leading corrections to scaling due to its small scaling dimension.

Triangular-lattice anisotropic dimerized Heisenberg antiferromagnet: Stability and excitations of the quantum paramagnetic phase

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Finite-momentum condensate of magnetic excitons in a bilayer quantum Hall system

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Universal zero-bias conductance through a quantum wire side-coupled to a quantum dot

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Simultaneous observation of the magnetic and electric behavior in a correlated system near a metal-semiconductor transition: ESR in pellets of conducting polymers

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Universal zero-bias conductance for the single-electron transistor

The thermal dependence of the zero-bias conductance for the single electron transistor is the target of two independent renormalization-group approaches, both based on the spin-degenerate Anderson impurity model. The first approach, an analytical derivation, maps the Kondo-regime conductance onto the universal conductance function for the particle-hole symmetric model. Linear, the mapping is parametrized by the Kondo temperature and the charge in the Kondo cloud. The second approach, a numerical renormalization-group computation of the conductance as a function the temperature and applied gate voltages offers a comprehensive view of zero-bias charge transport through the device. The first approach is exact in the Kondo regime; the second, essentially exact throughout the parametric space of the model. For illustrative purposes, conductance curves resulting from the two approaches are compared.

Magnetic field induced lattice effects in a quasi-two-dimensional organic conductor close to the Mott metal-insulator transition

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)