Search Results - "Motta, Fabiana L."

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families by Zin, Olivia A, Neves, Luiza M, Cunha, Daniela P, Motta, Fabiana L, Agonigi, Bruna N S, Horovitz, Dafne D G, Almeida, Jr, Daltro C, Malacarne, Jocieli, Rodrigues, Ana Paula S, Carvalho, Adriana B, Rivello, Cinthia A, Espariz, Rita, Zin, Andrea A, Sallum, Juliana M F, Vasconcelos, Zilton F M

“…Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the gene. It causes…”
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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients by Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Motta, Fabiana L, Martin, Renan P, Turaça, Lauro T, Ferrer, Henrique L F, Gomes, Caio P, Nicolicht, Priscila, Mara Marins, Maryana, Pessoa, Juliana G, Braga, Marion C, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João B

“…Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene…”
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Chemically-induced RAT mesenchymal stem cells adopt molecular properties of neuronal-like cells but do not have basic neuronal functional properties by Barnabé, Gabriela F, Schwindt, Telma T, Calcagnotto, Maria E, Motta, Fabiana L, Martinez, Jr, Gilberto, de Oliveira, Allan C, Keim, Leda M N, D'Almeida, Vânia, Mendez-Otero, Rosália, Mello, Luiz E

“…Induction of adult rat bone marrow mesenchymal stem cells (MSC) by means of chemical compounds (beta-mercaptoethanol, dimethyl sulfoxide and butylated…”
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Co-ordinated expression of lymphoid and myeloid specific transcription factors during B-1b cell differentiation into mononuclear phagocytes in vitro by Popi, Ana F, Motta, Fabiana L.T, Mortara, Renato A, Schenkman, Sergio, Lopes, José D, Mariano, Mario

“…We previously demonstrated that B-1b cells can undergo differentiation to acquire a mononuclear phagocyte phenotype upon attachment to substrate in vitro. Here…”
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Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance by Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez‐Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

“…The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis…”
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Macular dystrophies associated with Stargardt-like phenotypes by Amaral, Rebeca A S, Zin, Olivia A, Salles, Mariana V, Motta, Fabiana L, Sallum, Juliana Maria Ferraz

“…Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal…”
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Expression of functional recombinant human factor IX in milk of mice by Lisauskas, Sharon F. C, Cunha, Nicolau B, Vianna, Giovanni R, Mendes, Érica A, Ramos, Gustavo L, Maranhão, Andréia Q, Brígido, Marcelo M, Almeida, Jussara O. S. C, Baptista, Heloisa A, Motta, Fabiana L. T, Pesquero, João B, Aragão, Francisco J. L, Rech, Elíbio L

“…Human factor IX is synthesized in the liver and secreted in the blood, where it participates in a group of reactions involving coagulation factors and proteins…”
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Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia by Amaral, Rebeca A S, Motta, Fabiana L, Zin, Olivia A, da Palma, Mariana M, Rodrigues, Gabriela D, Sallum, Juliana M F

“…Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color…”
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The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis by Neves, Luiza M., Pinto, Márcia, Zin, Olivia A., Cunha, Daniela P., Agonigi, Bruna N. S., Motta, Fabiana L., Gomes, Leonardo H. F., Horovitz, Dafne D. G., Almeida, Daltro C., Malacarne, Jocieli, Guida, Leticia, Braga, Andressa, Carvalho, Adriana Bastos, Pereira, Eduardo, Rodrigues, Ana Paula S., Sallum, Juliana M. F., Zin, Andrea A., Vasconcelos, Zilton F. M.

“…Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for…”
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Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy by Motta, Fabiana L, Martin, Renan P, Porto, Fernanda B O, Wohler, Elizabeth S, Resende, Rosane G, Gomes, Caio P, Pesquero, João B, Sallum, Juliana M F

“…A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of…”
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Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia by Zin, Olivia A, Neves, Luiza M, Motta, Fabiana L, Horovitz, Dafne D G, Guida, Leticia, Gomes, Leonardo H F, Cunha, Daniela P, Rodrigues, Ana Paula S, Zin, Andrea A, Sallum, Juliana M F, Vasconcelos, Zilton F M

“…Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 (…”
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Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy by Motta, Fabiana, Martin, Renan, Porto, Fernanda, Wohler, Elizabeth, Resende, Rosane, Gomes, Caio, Pesquero, João, Sallum, Juliana

“…A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of…”
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Effects of FGF-2 and EGF removal on the differentiationof mouse neural precursor cells by Schwindt, Telma T.(Universidade Federal de São Paulo Departamento de Fisiologia), Motta, Fabiana L.(Universidade Federal de São Paulo Departamento de Fisiologia), Gabriela F., Barnabé(Universidade Federal de São Paulo Departamento de Fisiologia), Cristina G., Massant(Universidade Federal de São Paulo Departamento de Fisiologia), Guimarães, Alessander O.(Universidade Federal de São Paulo Departamento de Biofísica), Calcagnotto, Maria Elisa(Universidade Federal de São Paulo Departamento de Fisiologia), Pesquero, João B.(Universidade Federal de São Paulo Departamento de Biofísica), Mello, Luiz E.(Universidade Federal de São Paulo Departamento de Fisiologia)

“…Cell therapy for neurological disorders has advanced, and neural precursor cells (NPC) may become the ideal candidates for neural transplantation in a wide…”
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Neuropathic Pain-Like Behavior after Brachial Plexus Avulsion in Mice: The Relevance of Kinin B1 and B2 Receptors by Quintao, Nara L. M, Passos, Giselle F, Medeiros, Rodrigo, Paszcuk, Ana F, Motta, Fabiana L, Pesquero, Joao B, Campos, Maria M, Calixto, Joao B

“…The relevance of kinin B(1) (B(1)R) and B(2) (B(2)R) receptors in the brachial plexus avulsion (BPA) model was evaluated in mice, by means of genetic and…”
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Administration of neural precursor cells ameliorates renal ischemia-reperfusion injury by Wang, Pamella Huey Mei, Schwindt, Telma T, Barnabé, Gabriela Filoso, Motta, Fabiana L T, Semedo, Patricia, Beraldo, Felipe Caetano, Mazzali, Marilda, Dos Reis, Marlene Antonia, Teixeira, Vicente de Paula Antunes, Pacheco-Silva, Alvaro, Mello, Luis Eugênio A de, Câmara, Niels Olsen Saraiva

“…In this study we evaluated whether administration of stem cells of neural origin (neural precursor cells, NPCs) could be protective against renal…”
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Kinin-B2 receptor expression and activity during differentiation of embryonic rat neurospheres by Martins, Antonio H, Alves, Janaína M, Trujillo, Cleber A, Schwindt, Telma T, Barnabé, Gabriela F, Motta, Fabiana L.T, Guimaraes, Alessander O, Casarini, Dulce E, Mello, Luiz E, Pesquero, João B, Ulrich, Henning

“…Neural progenitor cells were isolated from rat fetal telencephalon and proliferate as neurospheres in the presence of EGF, FGF-2, and heparin. In the absence…”
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Effects of FGF-2 and EGF removal on the differentiation of mouse neural precursor cells by Schwindt, Telma T, Motta, Fabiana L, Gabriela F, Barnabé, Cristina G, Massant, Guimarães, Alessander O, Calcagnotto, Maria Elisa, Pesquero, João B, Mello, Luiz E

“…Cell therapy for neurological disorders has advanced, and neural precursor cells (NPC) may become the ideal candidates for neural transplantation in a wide…”
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Multiple RNAs from the mouse carboxypeptidase M locus: functional RNAs or transcription noise? by Guimarães, Alessander O, Motta, Fabiana L, Alves, Viviane S, Castilho, Beatriz A, Pesquero, João B

“…A major effort of the scientific community has been to obtain complete pictures of the genomes of many organisms. This has been accomplished mainly by…”
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Macular dystrophies associated with Stargardt-like phenotypes by Amaral, Rebeca A. S., Zin, Olivia A., Salles, Mariana V., Motta, Fabiana L., Sallum, Juliana Maria Ferraz

“…ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four…”
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Molecular and Clinical Characterization of ICNGA3/I and ICNGB3/I Genes in Brazilian Patients Affected with Achromatopsia by Amaral, Rebeca A. S, Motta, Fabiana L, Zin, Olivia A, da Palma, Mariana M, Rodrigues, Gabriela D, Sallum, Juliana M. F

“…Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color…”
Get full text