Janete Cerutti - Academia.edu (original) (raw)

Papers by Janete Cerutti

Research paper thumbnail of ABI3 ectopic expression reduces in vitro and in vivo cell growth properties while inducing senescence

BMC …, 2011

This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted P... more This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. ... ABI3 ectopic expression reduces in vitro and in vivo cell growth properties while inducing senescence

Research paper thumbnail of AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma

Cancer medicine, Jul 31, 2016

Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid ca... more Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in both adults and children. PTC genomic landscape has been extensively studied in adults, but information regarding sporadic pediatric patients is lacking. Although BRAF V600E mutation is highly prevalent in adults, this mutation is uncommon in pediatric cases. As adult and pediatric PTC is a mitogen-activated protein kinase-driven cancer, this altered pathway might be activated by different genetic events. The aim of this study was to investigate the occurrence of AGK-BRAF fusion gene, recently described in radiation-exposed pediatric PTC, in a cohort of exclusively sporadic pediatric PTC. The series consisted of 30 pediatric PTC younger than 18 years of age at the time of diagnosis and 15 matched lymph node metastases (LNM). Primary tumors and matched LNM were screened for the presence of the AGK-BRAF fusion transcript by RT-PCR....

Research paper thumbnail of The generation and utilization of a cancer-oriented representation of the human transcriptome by using expressed sequence tags

Proceedings of the National Academy of Sciences, 2003

... Simone Aparecida de Bessa n , David C. Bicknell q , Maria Eugenia Ribeiro de Camaro y , Dirce... more ... Simone Aparecida de Bessa n , David C. Bicknell q , Maria Eugenia Ribeiro de Camaro y , Dirce Maria Carraro p , Helaine Carrer hh ... bb , Ademar Lopes rr , Ana Mercedes SC Luna mm , Alan Mackay tt , Suely Kazue Nagahashi Mari n , Adriana Aparecida Marques w , Waleska ...

Research paper thumbnail of Paralisia periódica hipocalêmica tirotóxica, uma urgência endócrina: revisão do quadro clínico e genético de 25 pacientes; Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients

A paralisia periódica hipocalêmica tirotóxica (PPHT) é uma emergência médica caracterizada por at... more A paralisia periódica hipocalêmica tirotóxica (PPHT) é uma emergência médica caracterizada por ataques agudos de fraqueza muscular, hipocalemia e tirotoxicose, que desaparece com o tratamento do hipertiroidismo. As crises de paralisia são transitórias, auto-limitadas, associadas com hipocalemia e similares àquelas da paralisia periódica hipocalêmica familiar (PPHF), doença neurológica autossômica dominante. Este estudo descreve o quadro clínico e achados genéticos de 25 pacientes brasileiros com PPHT. A maioria dos pacientes apresentava perda de peso, taquicardia, bócio, tremores e oftalmopatia. Os ataques ocorreram, em sua maioria, durante a noite e tiveram recuperação espontânea, apesar de alguns pacientes evoluírem para quadriplegia e arritmias cardíacas. Todos apresentaram TSH suprimido e T 4 elevado, e a maioria anticorpos positivos, indicando etiologia auto-imune. O potássio estava baixo em todos durante a crise. A terapêutica profilática com potássio não preveniu os ataques, mas foi útil para diminuir a força da paralisia durante as crises. Identificamos a mutação R83H no gene KCNE3 num caso esporádico e a mutação M58V no gene KCNE4 numa família com PPHT. Além disso, identificamos polimorfismos nos genes CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11. Concluímos que a PPHT é a causa mais comum tratável de paralisia periódica adquirida e deve ser lembrada em casos de fraqueza muscular em pacientes jovens.

Research paper thumbnail of Investigation of BRAF mutation in a series of papillary thyroid carcinoma and matched-lymph node metastasis reveals a new mutation in metastasis

... Correspondence: Dr Janete M. Cerutti, Rua Pedro de Toledo 781, 12° andar, Federal University ... more ... Correspondence: Dr Janete M. Cerutti, Rua Pedro de Toledo 781, 12° andar, Federal University of São Paulo, 04039-032, São Paulo, SP, Brazil. Tel.: + 55 11 5081 5233; Fax: + 55 11 5084 5231; E-mail: cerutti-endo@pesquisa.epm.br. Publication History. ...

Research paper thumbnail of Upregulation of vascular endothelial growth factor receptors Flt-1 and Flk-1 in rat hippocampus after transient forebrain ischemia

Research paper thumbnail of A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid Carcinoma

Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainl... more Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly in cysteine codon 10 or 11, whereas noncysteine mutations in codons 13-15 are rare. We now report a new missense point mutation in exon 8 of the RET gene (1597G3 T) corresponding to a Gly 533 Cys substitution in the cystein-rich domain of RET protein in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain. It is likely that the mutation causes familial medullary thyroid carcinoma (FMTC), because no other mutation was found in RET, the mutation cosegregates with medullary thyroid carcinoma (MTC) or C cell hyperplasia (CCH) in patients subjected to surgery, and family members without the mutation are clinically unaffected. The histological analysis of 35 cases submitted to thyroidectomy revealed that 21 patients had MTC after the age of 40 yr and 8 before the age of 40 yr, 4 presented MTC or CCH before the age of 18 yr, 2 died due to MTC at the age of 53 and 60 yr, and CCH was found in a 5-yr-old child, suggesting a clinical heterogeneity. To improve the diagnosis of FMTC, analysis of exon 8 of RET should be considered in families with no identified classical RET mutations.

Research paper thumbnail of A Preoperative Diagnostic Test That Distinguishes Benign From Malignant Thyroid Carcinoma Based on Gene Expression

Journal of Clinical …, 2004

Accurate diagnosis of thyroid tumors is challenging. A particular problem is distinguishing betwe... more Accurate diagnosis of thyroid tumors is challenging. A particular problem is distinguishing between follicular thyroid carcinoma (FTC) and benign follicular thyroid adenoma (FTA), where histology of fine-needle aspirates is not conclusive. It is often necessary to remove healthy thyroid ...

Research paper thumbnail of Diagnosis of Suspicious Thyroid Nodules Using Four Protein Biomarkers

Clinical Cancer …, 2006

Purpose: Fine-needle aspiration (FNA) cytology, a standard method for thyroid nodule diagnosis, c... more Purpose: Fine-needle aspiration (FNA) cytology, a standard method for thyroid nodule diagnosis, cannot distinguish between benign follicular thyroid adenoma (FTA) and malignant follicular thyroid carcinoma (FTC). Previously, using expression profiling, we found that a ...

Research paper thumbnail of ABI3 ectopic expression reduces in vitro and in vivo cell growth properties while inducing senescence

BMC …, 2011

This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted P... more This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. ... ABI3 ectopic expression reduces in vitro and in vivo cell growth properties while inducing senescence

Research paper thumbnail of AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma

Cancer medicine, Jul 31, 2016

Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid ca... more Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in both adults and children. PTC genomic landscape has been extensively studied in adults, but information regarding sporadic pediatric patients is lacking. Although BRAF V600E mutation is highly prevalent in adults, this mutation is uncommon in pediatric cases. As adult and pediatric PTC is a mitogen-activated protein kinase-driven cancer, this altered pathway might be activated by different genetic events. The aim of this study was to investigate the occurrence of AGK-BRAF fusion gene, recently described in radiation-exposed pediatric PTC, in a cohort of exclusively sporadic pediatric PTC. The series consisted of 30 pediatric PTC younger than 18 years of age at the time of diagnosis and 15 matched lymph node metastases (LNM). Primary tumors and matched LNM were screened for the presence of the AGK-BRAF fusion transcript by RT-PCR....

Research paper thumbnail of The generation and utilization of a cancer-oriented representation of the human transcriptome by using expressed sequence tags

Proceedings of the National Academy of Sciences, 2003

... Simone Aparecida de Bessa n , David C. Bicknell q , Maria Eugenia Ribeiro de Camaro y , Dirce... more ... Simone Aparecida de Bessa n , David C. Bicknell q , Maria Eugenia Ribeiro de Camaro y , Dirce Maria Carraro p , Helaine Carrer hh ... bb , Ademar Lopes rr , Ana Mercedes SC Luna mm , Alan Mackay tt , Suely Kazue Nagahashi Mari n , Adriana Aparecida Marques w , Waleska ...

Research paper thumbnail of Paralisia periódica hipocalêmica tirotóxica, uma urgência endócrina: revisão do quadro clínico e genético de 25 pacientes; Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients

A paralisia periódica hipocalêmica tirotóxica (PPHT) é uma emergência médica caracterizada por at... more A paralisia periódica hipocalêmica tirotóxica (PPHT) é uma emergência médica caracterizada por ataques agudos de fraqueza muscular, hipocalemia e tirotoxicose, que desaparece com o tratamento do hipertiroidismo. As crises de paralisia são transitórias, auto-limitadas, associadas com hipocalemia e similares àquelas da paralisia periódica hipocalêmica familiar (PPHF), doença neurológica autossômica dominante. Este estudo descreve o quadro clínico e achados genéticos de 25 pacientes brasileiros com PPHT. A maioria dos pacientes apresentava perda de peso, taquicardia, bócio, tremores e oftalmopatia. Os ataques ocorreram, em sua maioria, durante a noite e tiveram recuperação espontânea, apesar de alguns pacientes evoluírem para quadriplegia e arritmias cardíacas. Todos apresentaram TSH suprimido e T 4 elevado, e a maioria anticorpos positivos, indicando etiologia auto-imune. O potássio estava baixo em todos durante a crise. A terapêutica profilática com potássio não preveniu os ataques, mas foi útil para diminuir a força da paralisia durante as crises. Identificamos a mutação R83H no gene KCNE3 num caso esporádico e a mutação M58V no gene KCNE4 numa família com PPHT. Além disso, identificamos polimorfismos nos genes CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11. Concluímos que a PPHT é a causa mais comum tratável de paralisia periódica adquirida e deve ser lembrada em casos de fraqueza muscular em pacientes jovens.

Research paper thumbnail of Investigation of BRAF mutation in a series of papillary thyroid carcinoma and matched-lymph node metastasis reveals a new mutation in metastasis

... Correspondence: Dr Janete M. Cerutti, Rua Pedro de Toledo 781, 12° andar, Federal University ... more ... Correspondence: Dr Janete M. Cerutti, Rua Pedro de Toledo 781, 12° andar, Federal University of São Paulo, 04039-032, São Paulo, SP, Brazil. Tel.: + 55 11 5081 5233; Fax: + 55 11 5084 5231; E-mail: cerutti-endo@pesquisa.epm.br. Publication History. ...

Research paper thumbnail of Upregulation of vascular endothelial growth factor receptors Flt-1 and Flk-1 in rat hippocampus after transient forebrain ischemia

Research paper thumbnail of A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid Carcinoma

Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainl... more Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly in cysteine codon 10 or 11, whereas noncysteine mutations in codons 13-15 are rare. We now report a new missense point mutation in exon 8 of the RET gene (1597G3 T) corresponding to a Gly 533 Cys substitution in the cystein-rich domain of RET protein in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain. It is likely that the mutation causes familial medullary thyroid carcinoma (FMTC), because no other mutation was found in RET, the mutation cosegregates with medullary thyroid carcinoma (MTC) or C cell hyperplasia (CCH) in patients subjected to surgery, and family members without the mutation are clinically unaffected. The histological analysis of 35 cases submitted to thyroidectomy revealed that 21 patients had MTC after the age of 40 yr and 8 before the age of 40 yr, 4 presented MTC or CCH before the age of 18 yr, 2 died due to MTC at the age of 53 and 60 yr, and CCH was found in a 5-yr-old child, suggesting a clinical heterogeneity. To improve the diagnosis of FMTC, analysis of exon 8 of RET should be considered in families with no identified classical RET mutations.

Research paper thumbnail of A Preoperative Diagnostic Test That Distinguishes Benign From Malignant Thyroid Carcinoma Based on Gene Expression

Journal of Clinical …, 2004

Accurate diagnosis of thyroid tumors is challenging. A particular problem is distinguishing betwe... more Accurate diagnosis of thyroid tumors is challenging. A particular problem is distinguishing between follicular thyroid carcinoma (FTC) and benign follicular thyroid adenoma (FTA), where histology of fine-needle aspirates is not conclusive. It is often necessary to remove healthy thyroid ...

Research paper thumbnail of Diagnosis of Suspicious Thyroid Nodules Using Four Protein Biomarkers

Clinical Cancer …, 2006

Purpose: Fine-needle aspiration (FNA) cytology, a standard method for thyroid nodule diagnosis, c... more Purpose: Fine-needle aspiration (FNA) cytology, a standard method for thyroid nodule diagnosis, cannot distinguish between benign follicular thyroid adenoma (FTA) and malignant follicular thyroid carcinoma (FTC). Previously, using expression profiling, we found that a ...