A5003304421- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Parathyroid Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Thyroid and Parathyroid Surgery
- Genomics and Rare Diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Autophagy in Disease and Therapy
- Epigenetics and DNA Methylation
- Cardiovascular and exercise physiology
- Cancer-related gene regulation
- Liver physiology and pathology
- Prion Diseases and Protein Misfolding
- Mosquito-borne diseases and control
- Pluripotent Stem Cells Research
- Adenosine and Purinergic Signaling
- Autism Spectrum Disorder Research
- Chromatin Remodeling and Cancer
- Genetics and Physical Performance
- Congenital heart defects research
- MicroRNA in disease regulation
- Neurogenesis and neuroplasticity mechanisms
- Medical Imaging and Pathology Studies
- Genomics and Chromatin Dynamics
Universidade de São Paulo
2018-2024
Universidade Federal de Pernambuco
2010-2024
Irmandade da Santa Casa de Misericórdia de São Paulo
2024
Hospital das Clínicas da Universidade Federal de Pernambuco
2024
Centro Universitário da Cidade
2024
University of Aveiro
2023
National Council for Scientific and Technological Development
2020
Abstract Congenital Zika syndrome (CZS) causes early brain development impairment by affecting neural progenitor cells (NPCs). Here, we analyze NPCs from three pairs of dizygotic twins discordant for CZS. We compare RNA-Seq the derived CZS-affected and CZS-unaffected twins. Prior to virus (ZIKV) infection CZS babies show a significantly different gene expression signature mTOR Wnt pathway regulators, key neurodevelopmental program. Following ZIKV in vitro infection, affected individuals have...
The liver is responsible for many metabolic, endocrine and exocrine functions. Approximately 2 million deaths per year are associated with failure. Modern 3D bioprinting technologies allied autologous induced pluripotent stem cells (iPS)-derived grafts could represent a relevant tissue engineering approach to treat end stage disease patients. However, protocols that accurately recapitulates liver's epithelial parenchyma through still underdeveloped. Here we evaluated the impacts of using...
Liver organoid technology holds great promises to be used in large-scale population-based drug screening and future regenerative medicine strategies. Recently, some studies reported robust protocols for generating isogenic liver organoids using parenchymal non-parenchymal cells derived from induced pluripotent stem (iPS) or adult primary cells. However, the use of whole iPS-derived could represent challenges a translational perspective. Here, we evaluated influence versus heterogenic cells,...
Objective Astrocytes play a significant role in the pathology of multiple sclerosis (MS). Nevertheless, for ethical reasons, most studies these cells were performed using Experimental Autoimmune Encephalomyelitis model. As there are differences between human and mouse cells, we aimed here to better characterize astrocytes from patients with MS (PwMS), focusing mainly on mitochondrial function cell metabolism. Methods We obtained characterized induced pluripotent stem (iPSC)‐derived three...
Exaggerated blood pressure response (EBPR) during the exercise treadmill test (ETT) has been considered to be a risk factor for hypertension. The relationship of polymorphisms renin-angiotensin system gene with hypertension not established. Our objective was evaluate whether EBPR is clinical marker study concerned historical cohort normotensive individuals. exposed individuals were those who presented EBPR. At end observation period (41.7 months = 3.5 years), development analyzed within two...
Amyotrophic lateral sclerosis type 8 (ALS8) is an autosomal dominant form of ALS, which caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients, classified as 'severe' and 'mild' from a gigantic Brazilian kindred, carrying same mutation but displaying different clinical courses. Copy number variation whole exome sequencing analyses such individuals ruled out previously described genetic modifiers pathogenicity. After deriving induced pluripotent stem cells...
GENERAL COMMENTARY article Front. Hum. Neurosci., 05 August 2013Sec. Brain Health and Clinical Neuroscience https://doi.org/10.3389/fnhum.2013.00420
Abstract Amyotrophic lateral sclerosis type 6 (ALS6) is a familial subtype of ALS linked to Fused in Sarcoma (FUS) gene mutation. FUS mutations lead decreased global protein synthesis, but the mechanism that drives this has not been established. Here, we used ALS6 patient‐derived induced pluripotent stem cells (hIPSCs) study effect R521H mutation on translation machinery motor neurons (MNs). We find, agreement with findings others, synthesis MNs. Furthermore, MNs are more sensitive oxidative...
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes generate localized and complex chromosome rearrangements in both somatic germline genomes. Herein, we describe 5-year-old female presenting with constellation clinical features consistent diagnosis Coffin-Siris syndrome 1 (CSS1). Initial G-banded karyotyping detected 90-Mb pericentric 47-Mb paracentric inversion on single chromosome. Subsequent analysis short-read whole-genome sequencing data...
Background Hereditary primary microcephaly (MCPH) is mainly characterised by decreased occipitofrontal circumference and variable degree of intellectual disability. MCPH with a dominant pattern inheritance rare condition, so far causally linked to pathogenic variants in the ALFY , DPP6 KIF11 DYRK1A genes. Objective This study aimed at identifying causative variant autosomal form Brazilian family three affected members. Methods Following clinical evaluation two sibs their mother presenting...
Maraging steels have attracted the attention of injection molding industry, mainly due to their mechanical properties. However, use these for complex inserts is still a challenge, given limitations conventional subtractive technologies. In this context, additive manufacturing technologies, especially Laser powder bed fusion (LPBF), arise as solution manufacture maraging steel parts with innovative designs. study, 18Ni300 lattice structures different architectures were designed and...
Objective: In this paper, a residency program at Brazilian University Hospital shares its experience with genetic screening test during the investigation of an inpatient schizophrenia features. Method: A whole exome sequencing study clozapine-refractory patient served as facilitator for mastering skills in genetics. Results: During hospitalization 26-year-old schizophrenia, medical team noted syndromic features, such retrognathia, large ear pinnae, pectus excavatum, and longer wingspan...