Search Results - "Bueno, M R"

Immune checkpoint expression on peripheral cytotoxic lymphocytes in cervical cancer patients: moving beyond the PD‐1/PD‐L1 axis by Solorzano‐Ibarra, F., Alejandre‐Gonzalez, A. G., Ortiz‐Lazareno, P. C., Bastidas‐Ramirez, B. E., Zepeda‐Moreno, A., Tellez‐Bañuelos, M. C, Banu, N., Carrillo‐Garibaldi, O. J., Chavira‐Alvarado, A., Bueno‐Topete, M. R., Toro‐Arreola, S., Haramati, J.

“…Summary Immune checkpoint therapy to reverse natural killer (NK) and T cell exhaustion has emerged as a promising treatment in various cancers. While…”
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A review of craniofacial disorders caused by spliceosomal defects by Lehalle, D., Wieczorek, D., Zechi-Ceide, R.M., Passos-Bueno, M.R., Lyonnet, S., Amiel, J., Gordon, C.T.

“…The spliceosome is a large ribonucleoprotein complex that removes introns from pre‐mRNA transcripts. Mutations in EFTUD2, encoding a component of the major…”
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Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth by Kague, E., Witten, P.E., Soenens, M., Campos, CL, Lubiana, T., Fisher, S., Hammond, C., Brown, K. Robson, Passos-Bueno, MR, Huysseune, A.

“…The capacity to fully replace teeth continuously makes zebrafish an attractive model to explore regeneration and tooth development. The requirement of…”
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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin by Reeves, Roger, Faulkner, Georgine, Wiltshire, Tim J, Vainzof, Mariz, Valle, Giorgio, Moreira, Eloisa S, Nilforoushan, Antje, Passos-Bueno, M. R, Suzuki, Oscar T, Jenne, Dieter E, Zatz, Mayana

“…Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature…”
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Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter by Maranduba, C M C, Friesema, E C H, Kok, F, Kester, M H A, Jansen, J, Sertié, A L, Passos-Bueno, M R, Visser, T J

“…We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with Allan-Herndon-Dudley syndrome (AHDS), an X linked condition…”
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Butyrate administration strengthens the intestinal epithelium and improves intestinal dysbiosis in a cholestasis fibrosis model by Peña‐Rodríguez, M., Vega‐Magaña, N., García‐Benavides, Leonel, Zepeda‐Nuño, J.S., Gutierrez‐Silerio, G.Y., González‐Hernández, L.A., Andrade‐Villanueva, J.F., Del Toro‐Arreola, S., Pereira‐Suárez, A.L., Bueno‐Topete, M.R.

“…Aim Intestinal dysfunction in cirrhosis patients is linked to death by bacterial infections. Currently, there is no effective therapy for this complication…”
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Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants by Savastano, C.P., Brito, L.A., Faria, Á.C., Setó‐Salvia, N., Peskett, E., Musso, C.M., Alvizi, L., Ezquina, S.A.M., James, C., GOSgene, Beales, P., Lees, M., Moore, G.E., Stanier, P., Passos‐Bueno, M.R.

“…Non‐syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome‐wide association studies (GWAS) on NSCL/P…”
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New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome by de Alencastro, G, McCloskey, D E, Kliemann, S E, Maranduba, C M C, Pegg, A E, Wang, X, Bertola, D R, Schwartz, C E, Passos-Bueno, M R, Sertié, A L

“…We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with…”
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Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum by Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

“…Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal…”
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Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome by Suzuki, O.T., Sertié, A.L., Der Kaloustian, V.M., Kok, F., Carpenter, M., Murray, J., Czeizel, A.E., Kliemann, S.E., Rosemberg, S., Monteiro, M., Olsen, B.R., Passos-Bueno, M.R.

“…Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment…”
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B by Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem, Mahjneh, Ibrahim, Marconi, Giampiero, Passos-Bueno, Maria Rita, Moreira, Eloisa de S, Zatz, Mayana, Beckmann, Jacques S

“…The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal…”
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Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome) by SERTIE, A. L, SOSSI, V, CAMARGO, A. A, ZATZ, M, BRAHE, C, PASSOS-BUENO, M. R

“…Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular…”
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Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle by Splendore, A, Jabs, E W, Passos-Bueno, M R

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HTR1B and HTR2C in autism spectrum disorders in Brazilian families by Orabona, G.M, Griesi-Oliveira, K, Vadasz, E, Bulcão, V.L.S, Takahashi, V.N.V.O, Moreira, E.S, Furia-Silva, M, Ros-Melo, A.M.S, Dourado, F, Matioli, R, Otto, P, Passos-Bueno, M.R

“…Abstract Autism spectrum disorders (ASD) is a group of behaviorally defined neurodevelopmental disabilities characterized by multiple genetic etiologies and a…”
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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation by Jehee, F S, Krepischi-Santos, A C V, Rocha, K M, Cavalcanti, D P, Kim, C A, Bertola, D R, Alonso, L G, D'Angelo, C S, Mazzeu, J F, Froyen, G, Lugtenberg, D, Vianna-Morgante, A M, Rosenberg, C, Passos-Bueno, M R

“…We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with…”
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Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder by Griesi-Oliveira, K., Fogo, M. S., Pinto, B. G. G., Alves, A. Y., Suzuki, A. M., Morales, A. G., Ezquina, S., Sosa, O. J., Sutton, G. J., Sunaga-Franze, D. Y., Bueno, A. P., Seabra, G., Sardinha, L., Costa, S. S., Rosenberg, C., Zachi, E. C., Sertie, A. L., Martins-de-Souza, D., Reis, E. M., Voineagu, I., Passos-Bueno, M. R.

“…Evaluation of expression profile in autism spectrum disorder (ASD) patients is an important approach to understand possible similar functional consequences…”
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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly by Jehee, FS, Johnson, D, Alonso, LG, Cavalcanti, DP, De Sá Moreira, E, Alberto, FL, Kok, F, Kim, C, Wall, SA, Jabs, EW, Boyadjiev, SA, Wilkie, AOM, Passos-Bueno, MR

“…Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the…”
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Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD) by Tonini, M.M.O, Passos-Bueno, M.R, Cerqueira, A, Matioli, S.R, Pavanello, R, Zatz, M

“…Facioscapulohumeral muscular dystrophy is an autosomal dominant muscle disorder, mapped to 4q35. It is characterized by remarkable inter- and intrafamilial…”
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Clinical spectrum of fibroblast growth factor receptor mutations by Passos-Bueno, M.R., Wilcox, W.R., Jabs, E.W., Sertié, A.L., Alonso, L.G., Kitoh, H.

“…During the last few years, it has been demonstrated that some syndromic craniosynostosis and short‐limb dwarfism syndromes, a heterogeneous group comprising of…”
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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies by Vainzof, M., Passos-Bueno, M. R., Canovas, M., Moreira, E. S., Pavanello, R. C. M., Marie, S. K., Anderson, L. V. B., Bonnemann, C. G., McNally, E. M., Nigro, V., Kunkel, L. M., Zatz, M.

“…To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F)…”
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