Search Results - "PENA, SÉRGIO D.J."

No association found between gr/gr deletions and infertility in Brazilian males by Carvalho, Cláudia M.B., Zuccherato, Luciana W., Bastos-Rodrigues, Luciana, Santos, Fabrício R., Pena, Sérgio D.J.

“…The Y chromosome carries several spermatogenesis genes distributed in three regions: AZFa, AZFb and AZFc. Microdeletions in these regions have been seen in 10%…”
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DNM1 encephalopathy: A new disease of vesicle fission by von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio D.J, Sisodiya, Sanjay M, Helbig, Ingo

“…OBJECTIVE:To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible…”
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Oxidative stress and DNA lesions: the role of 8-oxoguanine lesions in Trypanosoma cruzi cell viability by Aguiar, Pedro H N, Furtado, Carolina, Repolês, Bruno M, Ribeiro, Grazielle A, Mendes, Isabela C, Peloso, Eduardo F, Gadelha, Fernanda R, Macedo, Andrea M, Franco, Glória R, Pena, Sérgio D J, Teixeira, Santuza M R, Vieira, Leda Q, Guarneri, Alessandra A, Andrade, Luciana O, Machado, Carlos R

“…The main consequence of oxidative stress is the formation of DNA lesions, which can result in genomic instability and lead to cell death. Guanine is the base…”
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The Phylogeography of Brazilian Y-Chromosome Lineages by Carvalho-Silva, Denise R., Santos, Fabrício R., Rocha, Jorge, Pena, Sérgio D.J.

“…We examined DNA polymorphisms in the nonrecombining portion of the Y-chromosome to investigate the contribution of distinct patrilineages to the present-day…”
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Color and genomic ancestry in Brazilians: a study with forensic microsatellites by Pimenta, Juliana R, Zuccherato, Luciana W, Debes, Adriana A, Maselli, Luciana, Soares, Rosângela P, Moura-Neto, Rodrigo S, Rocha, Jorge, Bydlowski, Sergio P, Pena, Sérgio D J

“…The population of Brazil, formed by extensive admixture between Amerindians, Europeans and Africans, is one of the most variable in the world. We have recently…”
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Self-reported skin color, genomic ancestry and the distribution of GST polymorphisms by Suarez-Kurtz, Guilherme, Vargens, Daniela D, Struchiner, Claudio J, Bastos-Rodrigues, Luciana, Pena, Sergio D.J

“…BACKGROUND AND OBJECTIVESkin color and self-reported ethnicity have systematically been used in the pharmacogenetic/-genomic literature as phenotypic proxies…”
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Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome by Tarazona-Santos, Eduardo, Carvalho-Silva, Denise R., Pettener, Davide, Luiselli, Donata, De Stefano, Gian Franco, Labarga, Cristina Martinez, Rickards, Olga, Tyler-Smith, Chris, Pena, Sérgio D.J., Santos, Fabrício R.

“…The geographic structure of Y-chromosome variability has been analyzed in native populations of South America, through use of the high-frequency Native…”
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Colorectal Cancer "Methylator Phenotype": Fact or Artifact? by Anacleto, Charles, Leopoldino, Andréia M., Rossi, Benedito, Soares, Fernando A., Lopes, Ademar, Rocha, José Cláudio C., Caballero, Otávia, Camargo, Anamaria A., Simpson, Andrew J.G., Pena, Sérgio D.J.

“…It has been proposed that human colorectal tumors can be classified into two groups: one in which methylation is rare, and another with methylation of several…”
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Trypanosoma Cruzi : Ancestral Genomes and Population Structure by Pena, Sérgio D.J, Machado, Carlos Renato, Macedo, Andréa Mara

“…Although the genome of Trypanosoma cruzi has been completely sequenced, little is known about its population structure and evolution. Since 1999, two major…”
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A worldwide phylogeography for the human X chromosome by Santos-Lopes, Simone S, Pereira, Rinaldo W, Wilson, Ian J, Pena, Sérgio D J

“…We reasoned that by identifying genetic markers on human X chromosome regions where recombination is rare or absent, we should be able to construct X…”
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Trypanosoma cruzi: role of host genetic background in the differential tissue distribution of parasite clonal populations by Andrade, Luciana O, Machado, Conceição R.S, Chiari, Egler, Pena, Sérgio D.J, Macedo, Andréa M

“…Chagas' disease, caused by the protozoan parasite Trypanosoma cruzi, has quite a variable clinical presentation, ranging from asymptomatic to severe chronic…”
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Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1 by Linhares, Natália Duarte, Arantes, Rodrigo Rezende, Araujo, Stanley Almeida, Pena, Sergio D J

“…Abstract Little is known about the molecular pathogenesis of congenital nephrotic syndrome in association with primary adrenal insufficiency. Most recently,…”
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Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region by Alves-Silva, J, Guimarães, P E, Rocha, J, Pena, S D, Prado, V F

“…Although the deletion of one of the 9-bp repeats in region V of mitochondrial DNA is very common in Asians, Asian-derived populations and Africans, the…”
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Lack of association between Y chromosome haplogroups and male infertility in Japanese men by Carvalho, Cláudia M.B., Fujisawa, Masato, Shirakawa, Toshiro, Gotoh, Akinobu, Kamidono, Sadao, Freitas Paulo, Tatiana, Santos, Sidney E.B., Rocha, Juliane, Pena, Sérgio D.J., Santos, Fabrício R.

“…The Y chromosome carries several genes involved in spermatogenesis, which are distributed in three regions in the euchromatic part of the long arm, called AZFa…”
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Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors by Sandoval, Jose R, Salazar-Granara, Alberto, Acosta, Oscar, Castillo-Herrera, Wilder, Fujita, Ricardo, Pena, Sergio D J, Santos, Fabricio R

“…In order to investigate the underlying genetic structure and genomic ancestry proportions of Peruvian subpopulations, we analyzed 551 human samples of 25…”
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Research Article MQS-PCR: a simple and quick multiplex PCR molecular method for human chromosomal sex determination in DNA samples by Rocha, Juliane L.F., Pena, Heloísa B., Pena, Sérgio D.J.

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A major founder Y-chromosome haplotype in Amerindians by Santos, Fabrício R, Carnese, Francisco R, Oyunsuren, Tsendsuren, Bianchi, Néstor O, Rothhammer, Francisco, Gerelsaikhan, Tudevdagva, Pena, Sérgio D.J, Bravi, Claudio M, Munkhtuja, Bjamba

“…The original peopling of the Americas remains shrouded in mystery. Two facts appear settled: (i) migration occurred from Asia through a land bridge in…”
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Peeking into the mysterious world of Trypanosoma cruzi and Chagas disease by Macedo, Andréa M, Pena, Sérgio Dj

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Research Article Molecular karyotyping of 1,295 spontaneous consecutive abortions by sequential analysis with QF-PCR, HGQ-PCR and SNP-array by de Sousa, Cassiana S., Pena, Heloísa B., Rocha, Juliane L.F., Pena, Sérgio D.J.

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The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected by Pena, Sérgio D J, Di Pietro, Giuliano, Fuchshuber-Moraes, Mateus, Genro, Julia Pasqualini, Hutz, Mara H, Kehdy, Fernanda de Souza Gomes, Kohlrausch, Fabiana, Magno, Luiz Alexandre Viana, Montenegro, Raquel Carvalho, Moraes, Manoel Odorico, de Moraes, Maria Elisabete Amaral, de Moraes, Milene Raiol, Ojopi, Elida B, Perini, Jamila A, Racciopi, Clarice, Ribeiro-Dos-Santos, Andrea Kely Campos, Rios-Santos, Fabrício, Romano-Silva, Marco A, Sortica, Vinicius A, Suarez-Kurtz, Guilherme

“…Based on pre-DNA racial/color methodology, clinical and pharmacological trials have traditionally considered the different geographical regions of Brazil as…”
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