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Your search keyword '"Lazar, Monize"' showing total 17 results
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17 results on '"Lazar, Monize"'

2. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Author

Moreira, Eloisa S., Silva, Isabela M.W., Lourenço, Naila, Moreira, Danielle P., Ribeiro, Cintia M., Martins, Ana Luiza B., Griesi-Oliveira, Karina, Lazar, Monize, Costa, Silvia S., Naslavsky, Michel S., Rocha, Kátia M., Aguena, Meire, Fett-Conte, Agnes C., Zatz, Mayana, Rosenberg, Carla, Zachi, Elaine C., Bertola, Débora R., Vadasz, Estevão, and Passos-Bueno, Maria Rita

Published
2016
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3. Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

Author

Martins, Luciane, primary, Lessa, Luis Gustavo F., additional, Ali, Taccyanna M., additional, Lazar, Monize, additional, Kim, Chong A., additional, Kantovitz, Kamila R., additional, Santamaria, Mauro P., additional, Araújo, Cássia F., additional, Ramos, Carolina J., additional, Foster, Brian L., additional, Franco, José Francisco S., additional, Bertola, Débora, additional, and Nociti, Francisco H., additional

Published
2022
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4. Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

Author

Gurgel-Giannetti, Juliana, primary, Souza, Lucas Santos, additional, Yamamoto, Guilherme L., additional, Belisario, Marina, additional, Lazar, Monize, additional, Campos, Wilson, additional, Pavanello, Rita de Cassia M., additional, Zatz, Mayana, additional, Reed, Umbertina, additional, Zanoteli, Edmar, additional, Oliveira, Acary Bulle, additional, Lehtokari, Vilma-Lotta, additional, Casella, Erasmo B., additional, Machado-Costa, Marcela C., additional, Wallgren-Pettersson, Carina, additional, Laing, Nigel G., additional, Nigro, Vincenzo, additional, and Vainzof, Mariz, additional

Published
2022
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5. Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.

Author

Martins, Luciane, Lessa, Luis Gustavo F., Ali, Taccyanna M., Lazar, Monize, Kim, Chong A., Kantovitz, Kamila R., Santamaria, Mauro P., Araújo, Cássia F., Ramos, Carolina J., Foster, Brian L., Franco, José Francisco S., Bertola, Débora, and Nociti Jr., Francisco H.

Subjects
HYPOPHOSPHATASIA, MISSENSE mutation, HEREDITY
Abstract

The goal of this study was to perform a clinical and molecular investigation in an eight-year-old female child diagnosed with hypophosphatasia (HPP). The proband and her family were evaluated by medical and dental histories, biochemical analyses, radiographic imaging, and genetic analysis of the tissue-nonspecific alkaline phosphatase (ALPL) gene. A bioinformatic analysis was performed to predict the structural and functional impact of the point mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) molecule and to define their potential contribution to the phenotype. We identified a novel combination of heterozygous ALPL missense variants in the proband, p.Ala33Val and p.Asn47His, compatible with an autosomal recessive mode of inheritance and resulting in skeletal and dental phenotypes. Computational modeling showed that the affected Asn47 residue is located in the coil structure close to the N-terminal α-helix, whereas the affected Ala33 residue is localized in the N-terminal α-helix. Both affected residues are located close to the homodimer interface, suggesting they may impair TNSALP dimer formation and stability. Clinical and biochemical follow-up revealed improvements after six years of ERT. Reporting this novel combination of ALPL variants in childhood HPP provides new insights into genotype–phenotype associations for HPP and specific sites within the TNSALP molecule potentially related to a childhood-onset HPP and skeletal and dental manifestations. Beneficial effects of ERT are implicated in skeletal and dental tissues. [ABSTRACT FROM AUTHOR]

Published
2023
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8. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer

Author

Bandeira, Gabriel, primary, Rocha, Katia, additional, Lazar, Monize, additional, Ezquina, Suzana, additional, Yamamoto, Guilherme, additional, Varela, Monica, additional, Takahashi, Vanessa, additional, Aguena, Meire, additional, Gollop, Thomaz, additional, Zatz, Mayana, additional, Passos-Bueno, Maria Rita, additional, Krepischi, Ana, additional, and Okamoto, Oswaldo Keith, additional

Published
2020
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9. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy (XMEA)

Author

Fernandes, Stephanie A., primary, Almeida, Camila F., additional, Souza, Lucas S., additional, Lazar, Monize, additional, Onofre-Oliveira, Paula, additional, Yamamoto, Guilherme L., additional, Nogueira, Letícia, additional, Tasaki, Letícia Y., additional, Cardoso, Rafaela R., additional, Pavanello, Rita C. M., additional, Silva, Helga C. A., additional, Ferrari, Merari F. R., additional, Bigot, Anne, additional, Mouly, Vincent, additional, and Vainzof, Mariz, additional

Published
2019
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10. Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Author

Naslavsky, Michel Satya, primary, Yamamoto, Guilherme Lopes, additional, Almeida, Tatiana Ferreira, additional, Ezquina, Suzana A. M., additional, Sunaga, Daniele Yumi, additional, Pho, Nam, additional, Bozoklian, Daniel, additional, Sandberg, Tatiana Orli Milkewitz, additional, Brito, Luciano Abreu, additional, Lazar, Monize, additional, Bernardo, Danilo Vicensotto, additional, Amaro, Edson, additional, Duarte, Yeda A. O., additional, Lebrão, Maria Lúcia, additional, Passos‐Bueno, Maria Rita, additional, and Zatz, Mayana, additional

Published
2017
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11. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

Author

Toledo, Rodrigo A, primary, Hatakana, Roxanne, additional, Lourenço, Delmar M, additional, Lindsey, Susan C, additional, Camacho, Cleber P, additional, Almeida, Marcio, additional, Lima, José V, additional, Sekiya, Tomoko, additional, Garralda, Elena, additional, Naslavsky, Michel S, additional, Yamamoto, Guilherme L, additional, Lazar, Monize, additional, Meirelles, Osorio, additional, Sobreira, Tiago J P, additional, Lebrao, Maria Lucia, additional, Duarte, Yeda A O, additional, Blangero, John, additional, Zatz, Mayana, additional, Cerutti, Janete M, additional, Maciel, Rui M B, additional, and Toledo, Sergio P A, additional

Published
2014
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12. Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Author

Yamamoto, Guilherme L., primary, Baratela, Wagner A.R., additional, Almeida, Tatiana F., additional, Lazar, Monize, additional, Afonso, Clara L., additional, Oyamada, Maria K., additional, Suzuki, Lisa, additional, Oliveira, Luiz A.N., additional, Ramos, Ester S., additional, Kim, Chong A., additional, Passos-Bueno, Maria Rita, additional, and Bertola, Débora R., additional

Published
2014
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14. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Author

Toledo, Rodrigo A., Hatakana, Roxanne, Lourenço Jr., Delmar M., Lindsey, Susan C., Camacho, Cleber P., Almeida, Marcio, Lima Jr, Jose V., Sekiya, Tomoko, Garralda, Elena, Naslavsky, Michel S., Yamamoto, Guilherme L., Lazar, Monize, Meirelles, Osorio, Sobreira, Tiago J. P., Lebrao, Maria Lucia, Duarte, Yeda A. O., Blangero, John, Zatz, Mayana, Cerutti, Janete M., and Maciel, Rui M. B.

Subjects
PROTO-oncogenes, MEDULLARY thyroid carcinoma, NUCLEOTIDE sequencing, TUMORS, SOMATIC mutation
Abstract

Accurate interpretation of germline mutations of the rearranged during transfection (RET) proto-oncogene is vital for the proper recommendation of preventive thyroidectomy in medullary thyroid carcinoma (MTC)-prone carriers. To gain information regarding the most disputed variant of RET, ATA-AY791F, we sequenced blood DNA samples from a cohort of 2904 cancer-free elderly individuals (1261 via Sanger sequencing and 1643 via whole-exome/genome sequencing). We also accessed the exome sequences of an additional 8069 individuals from non-cancer-related laboratories and public databanks as well as genetic results from the Catalogue of Somatic Mutations in Cancer (COSMIC) project. The mean allelic frequency observed in the controls was 0.0031, with higher occurrences in Central European populations (0.006/0.008). The prevalence of RETY791F in the control databases was extremely high compared with the 40 known RET pathogenic mutations (P=0.00003), while no somatic occurrence has been reported in tumours. In this study, we report new, unrelated Brazilian individuals with germline RET Y791F-only: two tumour-free elderly controls; two individuals with sporadic MTC whose Y791F-carrying relatives did not show any evidence of tumours; and a 74-year-old phaeochromocytoma patient without MTC. Furthermore, we showed that the co-occurrence of Y791F with the strong RET C634Y mutation explains the aggressive MTC phenotypes observed in a large affected family that was initially reported as Y791F-only. Our literature review revealed that limited analyses have led to the misclassification of RET Y791F as a probable pathogenic variant and, consequently, to the occurrence of unnecessary thyroidectomies. The current study will have a substantial clinical influence, as it reveals, in a comprehensive manner, that RETY791F only shows no association with MTC susceptibility. [ABSTRACT FROM AUTHOR]

Published
2015
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15. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Author

Fernandes, Stephanie A., Almeida, Camila F., Souza, Lucas S., Lazar, Monize, Onofre-Oliveira, Paula, Yamamoto, Guilherme L., Nogueira, Letícia, Tasaki, Letícia Y., Cardoso, Rafaela R., Pavanello, Rita C. M., Silva, Helga C. A., Ferrari, Merari F. R., Bigot, Anne, Mouly, Vincent, and Vainzof, Mariz

Abstract

X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mutations associated with lower content of assembled v-ATPases lead to an increase in lysosomal pH, culminating in partial blockage of macroautophagy, with accumulation of vacuoles of undigested content. Here, we studied a 5-year-old boy affected by XMEA, caused by a small indel in the VMA21 gene. Detection of sarcoplasmic Lc3 (also known as MAP1LC3B)-positive vacuoles in his muscle biopsy confirmed an autophagy defect. To understand how autophagy is regulated in XMEA myogenesis, we used patient-derived muscle cells to evaluate autophagy during in vitro muscle differentiation. An increase in lysosomal pH was observed in the patient's cells, compatible with predicted functional defect of his mutation. Additionally, there was an increase in autophagic flux in XMEA myotubes. Interestingly, we observed that differentiation of XMEA myoblasts was altered, with increased myotube formation observed through a higher fusion index, which was not dependent on lysosomal acidification. Moreover, no variation in the expression of myogenic factors nor the presence of regenerating fibers in the patient's muscle were observed. Myoblast fusion is a tightly regulated process; therefore, the uncontrolled fusion of XMEA myoblasts might generate cells that are not as functional as normal muscle cells. Our data provide new evidence on the reason for predominant muscle involvement in the context of the XMEA phenotype. This article has an associated First Person interview with the first author of the paper.

Published
2020
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16. Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

Author

Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof, Gurgel-Giannetti, Juliana, Souza, Lucas Santo, Yamamoto, Guilherme L, Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M, Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B, Machado-Costa, Marcela C, Wallgren-Pettersson, Carina, Laing, Nigel G, Nigro, Vincenzo, and Vainzof, Mariz

Subjects
Myotonia Congenita, Organic Chemistry, Muscle Proteins, acta1, nebulin, General Medicine, Myopathies, Nemaline, Catalysis, Computer Science Applications, Inorganic Chemistry, congenital myopathy, Mutation, Humans, nemaline myopathy, Physical and Theoretical Chemistry, Muscle, Skeletal, Molecular Biology, Brazil, Spectroscopy
Abstract

Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor. Clinically, the “typical” form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed among patients with mutations in the same gene. Respiratory involvement was very common and often out of proportion with limb weakness. Muscle MRI patterns showed variability within the forms and genes, which was related to the severity of the weakness. Considering the high frequency of NEB mutations and the complexity of this gene, NGS tools should be combined with CNV identification, especially in patients with a likely non-identified second mutation.

Published
2022
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