A5059779738- Pancreatic function and diabetes
- Parkinson's Disease Mechanisms and Treatments
- Regulation of Appetite and Obesity
- Adipose Tissue and Metabolism
- Biochemical Analysis and Sensing Techniques
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- Genomic variations and chromosomal abnormalities
- Metabolism, Diabetes, and Cancer
- Adipokines, Inflammation, and Metabolic Diseases
- Congenital heart defects research
- Neuroendocrine Tumor Research Advances
- Digestive system and related health
- Nerve injury and regeneration
- Diabetes and associated disorders
- Nutritional Studies and Diet
- Sirtuins and Resveratrol in Medicine
- Obesity, Physical Activity, Diet
- Education and Digital Technologies
- Protein Kinase Regulation and GTPase Signaling
- Diet and metabolism studies
- Fetal and Pediatric Neurological Disorders
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
Fundação Oswaldo Cruz
2017-2025
Universidade Federal do Rio de Janeiro
2024-2025
Universidade do Estado do Rio de Janeiro
2015-2016
Genetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, majority are misdiagnosed polygenic Thus, this study aimed identify deleterious copy number variations (CNVs) linked and explore clinical phenotypes. The sample comprised 195 adults (BMI≥35kg/m2) who developed phenotype during childhood or adolescence. We investigated CNV using Multiplex Ligation-dependent Probe...
Obesity is a complex disease caused by combination of genetic, environmental, and epigenetic factors, associated with an increased risk chronic diseases. The leptin-melanocortin pathway integrates peripheral signals about the body's energy stores central neuronal circuit in hypothalamus. This has been extensively studied over years, as genetic variations genes related to it may play crucial role determining individual's susceptibility obesity. Therefore, we analyzed association between...
Obesity occurs due to the interaction between genetic background and environmental factors, including an increased food intake a sedentary lifestyle. Nowadays, it is clear that there specific circuit, called leptin-melanocortin pathway, which stimulates suppresses energy expenditure. Therefore, aim of this study was evaluate influence variants related appetite regulation expenditure on severe obesity susceptibility metabolic phenotypes in Brazilian cohort.
Brain-derived neurotrophic factor (BDNF) is a pro-survival in the brain that also regulates energy balance. BDNF loss-of-function point mutations are responsible for haploinsufficiency, causing severe early-onset obesity. Up to date, only few studies have sequenced this gene search rare related In study, we aimed investigate prevalence of variants cohort adults with obesity from Brazil.This study comprised 201 (BMI ≥ 35.0 kg/m2) onset during childhood- or adolescence/youth. As controls, 73...
Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due GCK or HNF1A mutations patients with suggestive clinical characteristics from Brazilian population, as well investigate if MODY probability calculator (MPC) could help their selection. Subjects and methods Inclusion criteria were DM diagnosed before 35 years; body mass index < 30 kg/m2; negative autoantibodies; family history two more generations. sequenced 27 seven...
Abstract Background MODY‐NEUROD1 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 ( NEUROD1 ). Until now, only few cases have been reported worldwide and the real contribution its clinical impact remain unclear. Methods Genomic DNA was isolated from peripheral blood lymphocytes 25 unrelated Brazilians patients with characteristics suggestive screening entire coding region performed Sanger sequencing. Results We identified one novel frameshift deletion...
Introduction Obesity is a multifactorial disease associated with the development of many comorbidities. This several metabolic alterations; however, it has been shown that some individuals obesity do not exhibit syndrome. Adipose tissue neutralizes detrimental effects circulating fatty acids, ectopic deposition, and inflammation, among others, through its esterification into neutral lipids are stored in adipocyte. However, when adipocyte overloaded, i.e., expansion capacity exceeded, this...
Background: Melanocortin 4 receptor gene ( MC4R ) is an important regulator of food intake, body weight, and blood pressure. Mutations in are associated with the most common form nonsyndromic monogenic obesity. variations have autosomal co-/dominant model inheritance. screening could reveal individuals previously unrecognized Mendelian obesity for further clinical management genetic counseling. However, there limited data regarding variants patients from Brazil. The aim this study was to...
Abstract Background Cystic fibrosis (CF) is caused by mutations in the cystic transmembrane conductance regulator gene ( CFTR ). There are over 2000 different pathogenic and non‐pathogenic variants described association with a broad clinical heterogeneity. The most common types of this single nucleotide substitutions or small deletions insertions. However, large rearrangements, such as duplications deletions, also possible cause CF; these variations rarely tested routine screenings, much...
Purpose: The aim of this study was to sequence the coding region PAX4 gene in a Brazilian cohort with clinical manifestations monogenic diabetes.Patients and Methods: This included 31 patients autosomal dominant history diabetes, age at diagnosis ≤40 years, BMI <30 kg/m 2 , no mutations GCK or HNF1A, HNF4A, HNF1B.Screening performed by Sanger sequencing.In silico algorithms were used assess potential impact amino acid substitutions on protein structure function.Additionally, PAX4-MODY family...
The melanocortinergic pathway orchestrates the energy homeostasis and impairments in this system often lead to an increase body weight. Rare variants melanocortin 4 receptor (MC4R) gene resulting partial or complete loss of function have been described with autosomal co-dominant inheritance. These mutations are most common cause non-syndromic monogenic obesity. In context, study aimed sequence MC4R a Brazilian cohort adults severe obesity.This included 163 unrelated probands Body Mass Index...
Monogenic forms of diabetes mellitus may affect a significant number patients this disease, and it is an important molecular cause to be investigated. However, studies the genetic causes monogenic diabetes, especially in populations with mixed ethnic backgrounds, such as one Brazil, are scarce. The aim study was screen several genes associated fifty-seven Brazilian recurrence disease their families thirty-four relatives. Inclusion criteria were: Age onset ≤ 40 years old, BMI &lt; 30...