Genetic variants in DBC1, SIRT1, UCP2 and ADRB2 as potential biomarkers for severe obesity and metabolic complications

Autor: Ana Carolina Proença da Fonseca, Izadora Sthephanie da Silva Assis, Kaio Cezar Rodrigues Salum, Lohanna Palhinha, Gabriella de Medeiros Abreu, Verônica Marques Zembrzuski, Mario Campos Junior, José Firmino Nogueira-Neto, Amanda Cambraia, Mauro Lucio Ferreira Souza Junior, Clarissa Menezes Maya-Monteiro, Pedro Hernán Cabello, Patrícia Torres Bozza, João Regis Ivar Carneiro

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

IntroductionObesity is a multifactorial disease associated with the development of many comorbidities. This disease is associated with several metabolic alterations; however, it has been shown that some individuals with obesity do not exhibit metabol

Externí odkaz: https://doaj.org/article/ef0f3ba97c0946f49a666c8bbd0bfd90

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

Autor: Raisa da Silva Martins, Mario Campos Junior, Aline dosSantos Moreira, Verônica Marques Zembrzuski, Ana Carolina Proença daFonseca, Gabriella de Medeiros Abreu, Pedro Hernan Cabello, Giselda Maria Kalil deCabello

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)

Abstract Background Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non‐pathogenic variants described in association with a broad clini

Externí odkaz: https://doaj.org/article/fd5fc55e97ec4201a50be5c862f2c6c4

Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients

Autor: Patrícia T. Bozza, José Firmino Nogueira Neto, Gabriella de Medeiros Abreu, Eliane Lopes Rosado, Mario Campos Junior, João Regis Ivar Carneiro, Pedro Hernan Cabello, Fernanda Cristina Carvalho Mattos Magno, Giselda M. K. Cabello, Verônica Marques Zembrzuski, Ana Carolina Proença da Fonseca

Publikováno v: Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity. 26:1399-1408

Monogenic forms of obesity are caused by single-gene variants which affect the energy homeostasis by increasing food intake and decreasing energy expenditure. Most of these variants result from disruption of the leptin–melanocortin signaling, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83bab1e9d1e50e03a59710b189b114a2
https://doi.org/10.1007/s40519-020-00946-z

Genetic, sociodemographic and lifestyle factors associated with serum 25-hydroxyvitamin D concentrations in Brazilian adults: the Pró-Saúde Study

Autor: Flávia Fioruci Bezerra, Paula Normando, Ana Carolina P. Fonseca, Verônica Zembrzuski, Mario Campos-Junior, Pedro Hernan Cabello-Acero, Eduardo Faerstein

Publikováno v: Cadernos de Saúde Pública v.38 n.1 2022
Cadernos de Saúde Pública
Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
Cadernos de Saúde Pública, Volume: 38, Issue: 1, Article number: e00287820, Published: 12 JAN 2022
Cadernos de Saúde Pública, Vol 38, Iss 1 (2022)

This study aims to investigate factors associated with serum 25-hydroxyvitamin D [25(OH)D] concentration in Brazilian adults considering sociodemographic and lifestyle factors, as well as vitamin D-related single nucleotide polymorphisms (SNPs). This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2423e67fa2bc61f09aa2501257a3305
https://doi.org/10.1590/0102-311x00287820

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient

Autor: Pedro Hernan Cabello, Fernanda Cristina Carvalho Mattos Magno, Mario Campos Junior, Gabriella de Medeiros Abreu, João Regis Ivar Carneiro, Giselda M. K. Cabello, José Firmino Nogueira Neto, Eliane Lopes Rosado, Verônica Marques Zembrzuski, Ana Carolina Proença da Fonseca

Publikováno v: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy. 12:257-266

Background Melanocortin 4 receptor gene (MC4R) is an important regulator of food intake, body weight, and blood pressure. Mutations in MC4R are associated with the most common form of nonsyndromic monogenic obesity. MC4R variations have an autosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0da55480108a599502d38292acf6a871
https://doi.org/10.2147/dmso.s189455