A5079972100- Phosphodiesterase function and regulation
- Peptidase Inhibition and Analysis
- Pituitary Gland Disorders and Treatments
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Growth Hormone and Insulin-like Growth Factors
- Adrenal and Paraganglionic Tumors
- Genomic variations and chromosomal abnormalities
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Sexual function and dysfunction studies
- BRCA gene mutations in cancer
- Thyroid Cancer Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Psychosomatic Disorders and Their Treatments
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Monoclonal and Polyclonal Antibodies Research
- Connective tissue disorders research
- Cholinesterase and Neurodegenerative Diseases
- Neuropeptides and Animal Physiology
- Cancer, Hypoxia, and Metabolism
- Pathogenesis and Treatment of Hiccups
- Ion Transport and Channel Regulation
- Obsessive-Compulsive Spectrum Disorders
- Congenital Ear and Nasal Anomalies
- Complement system in diseases
Hospital Israelita Albert Einstein
2021-2022
Pontifícia Universidade Católica do Paraná
2010-2017
Eunice Kennedy Shriver National Institute of Child Health and Human Development
2013-2015
National Institutes of Health
2011-2015
Pediatrics and Genetics
2015
National Institutes of Health Clinical Center
2014
Increased secretion of growth hormone leads to gigantism in children and acromegaly adults; the genetic causes are poorly understood.We performed clinical studies samples obtained from 43 patients with then sequenced an implicated gene 248 acromegaly.We observed microduplication on chromosome Xq26.3 13 gigantism; these samples, 4 were members two unrelated kindreds, 9 sporadic cases. All had disease onset during early childhood. Of who did not carry microduplication, none presented before...
Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Genomes Project is envisioned further the implementation of genomic medicine into public healthcare system. Here we report validation results a whole genome sequencing (WGS) procedure for clinical laboratories. In addition, data quality first 1,200 real-world patients sequenced. We sequenced well-characterized group 76 samples, including seven gold standard genomes, using PCR-free WGS protocol on Illumina Novaseq...
KCNJ5 mutations were recently described in primary hyperaldosteronism (PH or Conn's syndrome). The frequency of these PH and the way defects cause disease remain unknown. A total 53 patients with have been seen at National Institutes Health over last 12 years. Their peripheral tumor DNAs (the latter from 16 that operated) screened for mutations; functional studies on identified performed after transient transfection. Only two identified, both DNA only. There no germline sequencing any except...
Among the genomic loci harboring potential candidate genes for prostatic cancer (PCa) is 2q31-33 chromosomal region that harbors gene encoding phosphodiesterase 11A (PDE11A). In addition, combined genome expression metaanalysis datasets included PDE11A among top 1% down-regulated in PCa.
IGSF1 is a membrane glycoprotein highly expressed in the anterior pituitary. Pathogenic mutations gene (on Xq26.2) are associated with X-linked central hypothyroidism and testicular enlargement males. In this study, we tested hypothesis that involved development of pituitary tumors, especially those produce growth hormone (GH). was sequenced 21 patients gigantism or acromegaly 92 healthy individuals. Expression studies candidate pathogenic variant were carried out transfected cells...
Familial testicular germ cell tumors (FTGCTs) are hypothesized to result from the combined interaction of multiple low-penetrance genes. We reported inactivating germline mutations cAMP-binding phosphodiesterase 11A (PDE11A) as modifiers FTGCT risk. Recent genome-wide association studies have identified single-nucleotide polymorphisms in KITLG gene, ligand for cKIT tyrosine kinase receptor, strong susceptibility both familial and sporadic tumors.We studied 94 patients with FTGCTs 50 at-risk...
We hypothesized that mutations inactivate phosphodiesterase (PDE) activity and lead to increased cAMP cyclic guanosine monophosphate levels may be associated with prostate cancer (PCa). sequenced the entire PDE coding sequences in DNA of 16 biopsy samples from PCa patients. Novel were confirmed somatic or germline state by Sanger sequencing. Data then compared 1000 Genome Project. PDE, CREB pCREB protein expression was also studied all samples, both normal abnormal tissue,...
Thyroid cancer is the most common endocrine gland malignancy. Advances in understanding genetic basis for thyroid revealed potential involvement of several genes formation tumors. Mutations gene coding succinate dehydrogenase subtype B (SDHB) have been implicated papillary (PTC). Succinate (SDH) a heterotetrameric protein composed four subunits, SDHA, SDHB, SDHC, and SDHD, participates both electron transport chain tricarboxylic acid cycle. The aim study was to evaluate association between...
The overall structure of the superfamily 3´,5´-cyclic nucleotide phosphodiesterases (PDEs) proteins is highly conserved across species [1]. This because these enzymes play a very importan...
Abstract Context: Among the genomic loci harboring potential candidate genes for prostatic cancer (PCa) is 2q31-39 chromosomal region that harbors gene encoding phosphodiesterase 11A (PDE11A). In addition, combined genome expression metaanalysis datasets included PDE11A among top 1% down-regulated in PCa. Objective: present study, we screened 50 unrelated PCa patients of Brazilian descent coding defects. Design: The study consisted sequencing PDE11A, vitro functional assays, and...
Abstract Rare diseases affect 3.2 to 13.2 million individuals in Brazil. The Brazilian Genomes Project is envisioned further the implementation of genomic medicine into public healthcare system. Here we report results validation a whole genome sequencing (WGS) procedure for clinical laboratory. In addition, data quality first 1,200 real world patients sequenced. For validation, sequenced well characterized group 76 samples, including seven gold standard genomes, using PCR-free WGS protocol...
Autoinflammatory syndromes (AIS) are a group of rare monogenic diseases that have recently been described. The syndrome is characterized clinically by recurrent episodes fever and systemic inflammation affecting multiple organs systems. Mutations in IL1RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, TNFRSF1A, PSTPIP1 NOD2 genes cause the called AIS: Deficiency interleukin-1 receptor antagonist (DIRA), Majeed Syndrome, Familial Mediterranean Fever (FFM), Hyper IgD (HIDS), cryopyrinopathies...
Abstract Hereditary cancer risk syndromes are caused by germline variants. Most studies on hereditary have been conducted in white populations. We report the largest study Brazilian individuals with multiple ethnicities. genotyped 1682 from all regions of country Next-generation sequencing (NGS) panels. were women personal/family history cancer, mostly breast and ovarian. identified 321 pathogenic/likely pathogenic (P/LP) variants 305 people (18.1%) distributed among 32 genes. BRCA1 BRCA2...