Search Results - "Sergio D. J. Pena"

Distribution of CYP2D6 alleles and phenotypes in the Brazilian population by Friedrich, Deise C, Genro, Júlia P, Sortica, Vinicius A, Suarez-Kurtz, Guilherme, de Moraes, Maria Elizabete, Pena, Sergio D J, dos Santos, Andrea K Ribeiro, Romano-Silva, Marco A, Hutz, Mara H

“…The CYP2D6 enzyme is one of the most important members of the cytochrome P450 superfamily. This enzyme metabolizes approximately 25% of currently prescribed…”
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Ancestral genomes, sex, and the population structure of Trypanosoma cruzi by de Freitas, Jorge M, Augusto-Pinto, Luiz, Pimenta, Juliana R, Bastos-Rodrigues, Luciana, Gonçalves, Vanessa F, Teixeira, Santuza M R, Chiari, Egler, Junqueira, Angela C V, Fernandes, Octavio, Macedo, Andréa M, Machado, Carlos Renato, Pena, Sérgio D J

“…Acquisition of detailed knowledge of the structure and evolution of Trypanosoma cruzi populations is essential for control of Chagas disease. We profiled 75…”
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Advances of aneuploidy research in the maternal germline by Pena, Sergio D. J.

“…Sérgio Pena discusses a 2019 study by Gruhn et al., which showed that meiotic chromosome segregation errors originating in oocytes determine the curve of…”
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Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing by Linhares, Natália D, Wilk, Piotr, Wątor, Elżbieta, Tostes, Meire A, Weiss, Manfred S, Pena, Sergio D J

“…Prolidase Deficiency (PD) is an autosomal recessive rare disorder caused by loss or reduction of prolidase enzymatic activity due to variants in the PEPD gene…”
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Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion by Allen, Nicholas M., Conroy, Judith, Shahwan, Amre, Lynch, Bryan, Correa, Raony G., Pena, Sergio D. J., McCreary, Dara, Magalhães, Tiago R., Ennis, Sean, Lynch, Sally A., King, Mary D.

“…Summary Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an…”
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The Genetic Structure of Human Populations Studied Through Short Insertion‐Deletion Polymorphisms by Bastos‐Rodrigues, Luciana, Pimenta, Juliana R., Pena, Sergio D. J.

“…Summary In a landmark study Rosenberg et al. (2002) analyzed human genome diversity with 377 microsatellites in the HGDP‐CEPH Genome Diversity Panel and…”
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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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The MHC gene region of murine hosts influences the differential tissue tropism of infecting Trypanosoma cruzi strains by Freitas, Jorge M, Andrade, Luciana O, Pires, Simone F, Lima, Ricardo, Chiari, Egler, Santos, Ricardo R, Soares, Milena, Machado, Carlos R, Franco, Gloria R, Pena, Sergio D J, Macedo, Andrea M

“…We have previously demonstrated that both parasite genetic variability and host genetic background were important in determining the differential tissue…”
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De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females by Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth

“…Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and…”
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Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions by Watson, Christopher M., Crinnion, Laura A., Lindsay, Helen, Mitchell, Rowena, Camm, Nick, Robinson, Rachel, Joyce, Caroline, Tanteles, George A., Halloran, Domhnall J. O', Pena, Sergio D.J., Carr, Ian M., Bonthron, David T.

“…Short-read next generation sequencing (NGS) has become the predominant first-line technique used to diagnose patients with rare genetic conditions. Inherent…”
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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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Differential tissue tropism of Trypanosoma cruzi strains: an in vitro study by Andrade, Luciana O, Galvão, Lúcia M C, Meirelles, Maria de Nazareth S L, Chiari, Egler, Pena, Sergio D J, Macedo, Andrea M

“…We have previously demonstrated selection favoring the JG strain of Trypanosoma cruzi in hearts of BALB/c mice that were chronically infected with an equal…”
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Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant by Linhares, Natália Duarte, Fagundes, Eleonora Druve Tavares, Ferreira, Alexandre Rodrigues, Queiroz, Thaís Costa Nascentes, da Silva, Luiz Roberto, Pena, Sergio D J

“…The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in or . The classical…”
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Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype by Carr, Ian M, Diggle, Christine P, Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T, Markham, Alexander F, Anwar, Rashida, Dobbie, Angus, Pena, Sergio D J, Ali, Manir

“…Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (<1Kb), a significant…”
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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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Virus-host coevolution: common patterns of nucleotide motif usage in Flaviviridae and their hosts by Lobo, Francisco P, Mota, Bruno E F, Pena, Sérgio D J, Azevedo, Vasco, Macedo, Andréa M, Tauch, Andreas, Machado, Carlos R, Franco, Glória R

“…Virus-host biological interaction is a continuous coevolutionary process involving both host immune system and viral escape mechanisms. Flaviviridae family is…”
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VKORC1 polymorphisms in Brazilians: comparison with the Portuguese and Portuguese-speaking Africans and pharmacogenetic implications by Suarez-Kurtz, Guilherme, Amorim, António, Damasceno, Albertino, Hutz, Mara H, de Moraes, Manuel Odorico, Ojopi, Elida B, Pena, Sérgio D J, Perini, Jamila A, Prata, Maria João, Ribeiro-dos-Santos, Andrea, Romano-Silva, Marco A, Teixeira, Daniel, Struchiner, Claudio José

“…The heterogeneity of the Brazilian population renders the extrapolation of pharmacogenomic data derived from well-defined ethnic groups inappropriate. We…”
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Clinical genomics and precision medicine by Pena, Sérgio D. J., Tarazona-Santos, Eduardo

“…Precision Medicine emerges from the genomic paradigm of health and disease. For precise molecular diagnoses of genetic diseases, we must analyze the Whole…”
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Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data by Watson, Christopher M., Crinnion, Laura A., Gurgel-Gianetti, Juliana, Harrison, Sally M., Daly, Catherine, Antanavicuite, Agne, Lascelles, Carolina, Markham, Alexander F., Pena, Sergio D. J., Bonthron, David T., Carr, Ian M.

“…ABSTRACT Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease‐causing genes. The ease with which this…”
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Global pharmacogenomics: distribution of CYP3A5 polymorphisms and phenotypes in the Brazilian population by Suarez-Kurtz, Guilherme, Vargens, Daniela D, Santoro, Ana Beatriz, Hutz, Mara H, de Moraes, Maria Elisabete, Pena, Sérgio D J, Ribeiro-dos-Santos, Ândrea, Romano-Silva, Marco A, Struchiner, Claudio José

“…The influence of self-reported "race/color", geographical origin and genetic ancestry on the distribution of three functional CYP3A5 polymorphisms, their…”
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