The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish Inquisition

The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.

PERFORMANCE OF CONVENTIONAL PCRs BASED ON PRIMERS DIRECTED TO NUCLEAR AND MITOCHONDRIAL GENES FOR THE DETECTION AND IDENTIFICATION OF Leishmania spp.

In visceral leishmaniasis, the detection of the agent is of paramount importance to identify reservoirs of infection. Here, we evaluated the diagnostic attributes of PCRs based on primers directed to cytochrome-B (cytB), cytochrome-oxidase-subunit II (coxII), cytochrome-C (cytC), and the minicircle-kDNA. Although PCRs directed to cytB, coxII, cytC were able to detect different species of Leishmania, and the nucleotide sequence of their amplicons allowed the unequivocal differentiation of species, the analytical and diagnostic sensitivity of these PCRs were much lower than the analytical and diagnostic sensitivity of the kDNA-PCR. Among the 73 seropositive animals, the asymptomatic dogs had spleen and bone marrow samples collected and tested; only two animals were positive by PCRs based on cytB, coxII, and cytC, whereas 18 were positive by the kDNA-PCR. Considering the kDNA-PCR results, six dogs had positive spleen and bone marrow samples, eight dogs had positive bone marrow results but negative results in spleen samples and, in four dogs, the reverse situation occurred. We concluded that PCRs based on cytB, coxII, and cytC can be useful tools to identify Leishmania species when used in combination with automated sequencing. The discordance between the results of the kDNA-PCR in bone marrow and spleen samples may indicate that conventional PCR lacks sensitivity for the detection of infected dogs. Thus, primers based on the kDNA should be preferred for the screening of infected dogs.

Electron transfer complex between nitrous oxide reductase and cytochrome c552 from Pseudomonas nautica: kinetic, nuclear magnetic resonance, and docking studies

Biochemistry. 2008 Oct 14;47(41):10852-62. doi: 10.1021/bi801375q

Identification of mechanisms controlling the transcriptional activity of nuclear factor kappa B (NF-κB) p65/RelA

Dissertação para a obtenção do grau de doutor em Biologia pelo Instituto de Tecnologia Química e Biológica. Universidade Nova de Lisboa.

Study of nuclear reactions relevant for astrophysics by Micro-AMS

Dissertação para obtenção do Grau de Doutor em Física

Data fusion with computational intelligence techniques: a case study of fuzzy inference for terrain assessment

Dissertação apresentada para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores, pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia

Ressonância magnética nuclear com recurso a um transreceptor rádio controlado por software

Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

Irão Nuclear

O Irão é desde 1979 uma potência a ter em consideração. A sua história reflecte a força da nação e a razão pela qual é fortemente reprimido pelos seus pares. A presente dissertação pretende abordar a capacidade nuclear e mais concretamente o seu desenvolvimento pela República Islâmica do Irão, assim como todas as medidas de controlo a esta capacidade, procurando despertar a questão de quem deve ou tem capacidade de determinar a detenção e desenvolvimento de energia nuclear. Vivemos hoje, num mundo multipolar com novos arranjos à estrutura internacional outrora conhecida, verificando-se necessárias novas incursões por estas matérias de forma que as mesmas possam evoluir tanto teórica como praticamente a similar ritmo.

Novel affinity pairs "tag-receptor" for the purification of fusion proteins

Fundação para a Ciência e Tecnologia - SFRH/BD/48804/2008 and the project PTDC/BI/65383/2006 assigned to Prof. Cecíla Roque and also to Associate Laboratory REQUIMTE (Pest-C/EQB/LA0006/2011)

A bayesian approach for NDT data fusion: The Saint Torcato Church case study

This paper presents a methodology based on the Bayesian data fusion techniques applied to non-destructive and destructive tests for the structural assessment of historical constructions. The aim of the methodology is to reduce the uncertainties of the parameter estimation. The Young's modulus of granite stones was chosen as an example for the present paper. The methodology considers several levels of uncertainty since the parameters of interest are considered random variables with random moments. A new concept of Trust Factor was introduced to affect the uncertainty related to each test results, translated by their standard deviation, depending on the higher or lower reliability of each test to predict a certain parameter.

Measurements of the nuclear modification factor for jets in Pb+Pb collisions at sNN =2.76TeV with the ATLAS detector

Measurements of inclusive jet production are performed in pp and Pb+Pb collisions at sNN−−−√=2.76 TeV with the ATLAS detector at the LHC, corresponding to integrated luminosities of 4.0 pb−1 and 0.14 nb−1 , respectively. The jets are identified with the anti-kt algorithm with R=0.4, and the spectra are measured over the kinematic range of jet transverse momentum 32nuclear modification factor, RAA, is evaluated and jets are found to be suppressed by approximately a factor of two in central collisions compared to pp collisions. The RAA shows a slight increase with pT and no significant variation with rapidity.

Search for a Charged Higgs Boson Produced in the Vector-boson Fusion Mode with Decay H±→W±Z using pp Collisions at s√=8 TeV with the ATLAS Experiment

A search for a charged Higgs boson, H±, decaying to a W± boson and a Z boson is presented. The search is based on 20.3 fb−1 of proton-proton collision data at a center-of-mass energy of 8 TeV recorded with the ATLAS detector at the LHC. The H± boson is assumed to be produced via vector-boson fusion and the decays W±→qq′¯ and Z→e+e−/μ+μ− are considered. The search is performed in a range of charged Higgs boson masses from 200 to 1000 GeV. No evidence for the production of an H± boson is observed. Upper limits of 31--1020 fb at 95% CL are placed on the cross section for vector-boson fusion production of an H± boson times its branching fraction to W±Z. The limits are compared with predictions from the Georgi-Machacek Higgs Triplet Model.