Search Results - "Pena, S D"

A human immunodeficiency syndrome caused by mutations in CARMIL2 by Schober, T., Magg, T., Laschinger, M., Rohlfs, M., Linhares, N. D., Puchalka, J., Weisser, T., Fehlner, K., Mautner, J., Walz, C., Hussein, K., Jaeger, G., Kammer, B., Schmid, I., Bahia, M., Pena, S. D., Behrends, U., Belohradsky, B. H., Klein, C., Hauck, F.

“…Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling…”
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Global pharmacogenomics: Impact of population diversity on the distribution of polymorphisms in the CYP2C cluster among Brazilians by Suarez-Kurtz, G, Genro, J P, de Moraes, M O, Ojopi, E B, Pena, S D J, Perini, J A, Ribeiro-dos-Santos, A, Romano-Silva, M A, Santana, I, Struchiner, C J

“…The impact of biogeographical ancestry, self-reported ‘race/color’ and geographical origin on the frequency distribution of 10 CYP2C functional polymorphisms (…”
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DNA polymerase kappa from Trypanosoma cruzi localizes to the mitochondria, bypasses 8-oxoguanine lesions and performs DNA synthesis in a recombination intermediate by Rajão, M.A, Passos-Silva, D.G, DaRocha, W.D, Franco, G.R, Macedo, A.M, Pena, S.D.J, Teixeira, S.M, Machado, C.R

“…DNA polymerase kappa (Polκ) is a low-fidelity polymerase that has the ability to bypass several types of lesions. The biological role of this enzyme, a member…”
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Efficient human paternity testing with a panel of 40 short insertion-deletion polymorphisms by Pimenta, J R, Pena, S D J

“…We developed a panel of 40 multiplexed short insertion-deletion (indel) polymorphic loci with widespread chromosomal locations and allele frequencies close to…”
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Characterization of promoter regulatory elements involved in downexpression of the DNA polymerase κ in colorectal cancer by LEMEE, F, BAVOUX, C, PILLAIRE, M. J, BIETH, A, MACHADO, C. R, PENA, S. D, GUIMBAUD, R, SELVES, J, HOFFMANN, J. S, CAZAUX, C

“…The low-fidelity DNA polymerases thought to be specialized in DNA damage processing are frequently misregulated in cancers. We show here that DNA polymerase…”
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Pharmacogenomics in the Americas: the impact of genetic admixture by Suarez-Kurtz, G, Pena, S D J

“…In this review we focus on the impact of genetic admixture on pharmacogenomics in the American continent, where five centuries of intermarriage between…”
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Huntington disease-like 2: the first patient with apparent European ancestry by Santos, C, Wanderley, H, Vedolin, L, Pena, SDJ, Jardim, L, Sequeiros, J

“…Huntington disease‐like 2 (HDL2) is a rare autosomal dominant disorder of the nervous system, apparently indistinguishable from Huntington disease (HD). HDL2…”
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Cell culture and animal infection with distinct Trypanosoma cruzi strains expressing red and green fluorescent proteins by Pires, S.F., DaRocha, W.D., Freitas, J.M., Oliveira, L.A., Kitten, G.T., Machado, C.R., Pena, S.D.J., Chiari, E., Macedo, A.M., Teixeira, S.M.R.

“…Different strains of Trypanosoma cruzi were transfected with an expression vector that allows the integration of green fluorescent protein (GFP) and red…”
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Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy by Pena, S.D.J., Coimbra, R.L.M.

“…We have recently performed exome analysis in a 7 year boy who presented in infancy with an encephalopathy characterized by ataxia and myoclonic epilepsy…”
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MULTINDELS-BOV: Zebu traceback method based on DNA insertion-deletion polymorphisms by Groenner-Penna, M, Croce, E F D, Pimenta, C G, Bicalho, H M S, Pena, S D J

“…Brazil is a major producer and exporter of beef, with a herd of approximately 210 million animals. For the meat industry, a reliable animal traceback from its…”
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Worldwide diversity of the Y-chromosome tetra-local microsatellite DYS464 by Kehdy, F S G, Pena, S D J

“…Of all DNA markers on the human Y-chromosome, the tetra-local Y-linked microsatellite DYS464 is the most polymorphic. We genotyped DYS464 in 677 male samples…”
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DNA tests probe the genomic ancestry of Brazilians by Pena, S D J, Bastos-Rodrigues, L, Pimenta, J R, Bydlowski, S P

“…We review studies from our laboratories using different molecular tools to characterize the ancestry of Brazilians in reference to their Amerindian, European…”
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Relationship between Trypanosoma cruzi and human chagasic megaesophagus: blood and tissue parasitism by Lages-Silva, E, Crema, E, Ramirez, L E, Macedo, A M, Pena, S D, Chiari, E

“…The persistence of Trypanosoma cruzi in tissue and blood of 52 patients in the digestive form of chronic Chagas disease was studied. These patients had…”
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Chagas' disease diagnosis: comparative analysis of parasitologic, molecular, and serologic methods by Gomes, M L, Galvao, L M, Macedo, A M, Pena, S D, Chiari, E

“…During the course of chronic chagasic infection, low parasitemia levels prevent parasite detection by current techniques such as hemoculture and xenodiagnosis…”
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A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations by Munford, V., Castro, L.P., Souto, R., Lerner, L.K., Vilar, J. B., Quayle, C., Asif, H., Schuch, A.P., Souza, T.A., Ienne, S., Alves, F.I.A., Moura, L.M.S., Galante, P.A.F., Camargo, A.A., Liboredo, R., Pena, S.D.J., Sarasin, A., Chaibub, S.C., Menck, C.F.M.

“…Summary Background Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumours at an…”
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Kinetoplast DNA signatures of Trypanosoma cruzi strains obtained directly from infected tissues by Vago, AR, Macedo, AM, Oliveira, RP, Andrade, LO, Chiari, E, Galvao, LM, Reis, D, Pereira, ME, Simpson, AJ, Tostes, S, Pena, SD

“…We report here a polymerase chain reaction (PCR)-based DNA profiling technique that permits Trypanosoma cruzi strain characterization by direct study of…”
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The Ancestry of Brazilian mtDNA Lineages by Alves-Silva, Juliana, da Silva Santos, Magda, Guimarães, Pedro E.M., Ferreira, Alessandro C.S., Bandelt, Hans-Jürgen, Pena, Sérgio D.J., Prado, Vania Ferreira

“…We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)–I and selected restriction fragment-length–polymorphism sites, to assess their ancestry…”
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Pharmacogenomics: accessing important alleles by imputation from commercial genome-wide SNP arrays by Liboredo, R, Pena, S D J

“…Personalized medicine is becoming a medical reality, as important genotype-phenotype relationships are being unraveled. The availability of pharmacogenomic…”
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Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? by Linhares, N D, Freire, M C M, Cardenas, R G C C L, Bahia, M, Puzenat, E, Aubin, F, Pena, S D J

“…Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular…”
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The fallacy of racial pharmacogenomics by Pena, S D J

“…Personalized pharmacogenomics aims to use individual genotypes to direct medical treatment. Unfortunately, the loci relevant for the pharmacokinetics and…”
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