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FRONTIERS IN GENETICS, ISSN 1664-8021, 09/2019, Volume 10
Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase alpha-galactosidase A, which... 
LYSO-GB | GLA gene | GENE | intron inclusion | GENETICS & HEREDITY | Fabry disease | alpha-galactosidase A | splice site mutation | ALPHA-GALACTOSIDASE | α-galactosidase A
Journal Article
Molecular Neurobiology, ISSN 0893-7648, 12/2017, Volume 54, Issue 10, pp. 7869 - 7882
This study investigated the role of kinins and their receptors in malignant brain tumors. As a first approach, GL-261 glioma cells were injected (2 × 105 cells... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Glioblastoma | Kinins | Cell Biology | B 1 R and B 2 R | R and B | Immunohistochemistry | Brain | Astrocytes | Neurons | Brain tumors | Brain cancer | Crosstalk | Cell division | Confocal microscopy | Antagonists | Confocal | Autoradiography | Receptors | Microscopy | Rodents | Glioma cells | Neostriatum | Mice | Combined treatment | Immunofluorescence | Tumors | Index Medicus
Journal Article
Molecular Vision, ISSN 1090-0535, 08/2018, Volume 24, pp. 546 - 559
Purpose: The aim of this study was to analyze and report pathogenic variants in the ABCA4 gene in Brazilian patients with a clinical diagnosis of Stargardt... 
DEEP-INTRONIC VARIANTS | CONE-ROD DYSTROPHY | MOLECULAR DIAGNOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | FUNDUS-FLAVIMACULATUS | OPHTHALMOLOGY | MACULAR DEGENERATION | ITALIAN PATIENTS | MUTATIONS | RETINAL DYSTROPHIES | RETINITIS-PIGMENTOSA | SYNONYMOUS VARIANTS
Journal Article
Journal of Leukocyte Biology, ISSN 0741-5400, 09/2019, Volume 106, Issue 3, pp. 581 - 594
Chronic lymphocytic leukemia (CLL) is a chronic form of leukemia that originates from an abnormal expansion of CD5+B‐1 cells. Deregulation in the BCR signaling... 
BCR signaling | Ikaros | B‐1 and CLL cells | COMPLEXES | DNA-BINDING PROTEINS | PERITONEAL | ISOFORM | IMMUNOLOGY | GENE ENCODES | B-1 and CLL cells | CELL BIOLOGY | REAL-TIME PCR | B-CELLS | REGULATOR | ACUTE LYMPHOBLASTIC-LEUKEMIA | HEMATOLOGY | TRANSCRIPTION FACTOR
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2018, Volume 141, Issue 2, pp. AB46 - AB46
Angiopoietin 1 antagonizes the action of VEGF on vascular permeability, suggesting that an alteration of this gene could lead to the increase permeability and... 
Permeability | Mutation | Genes | Angioedema
Journal Article
Supportive Care in Cancer, ISSN 0941-4355, 7/2019, Volume 27, Issue 7, pp. 2479 - 2486
Chemotherapy-induced fatigue (CIF) is a frequent symptom that impairs patient functioning and quality of life. We aimed to evaluate whether systemic... 
Pain Medicine | Chemotherapy | Nursing | Rehabilitation Medicine | Medicine & Public Health | Nursing Research | Transcriptome | Oncology | Fatigue | Gene expression
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S44 - S45
Journal Article
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 03/2019, Volume 122, Issue 3, pp. 340 - 341
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2018, Volume 24, p. 546
Purpose: The aim of this study was to analyze and report pathogenic variants in the ABCA4 gene in Brazilian patients with a clinical diagnosis of Stargardt... 
Pathogenicity | Genotype & phenotype | Phenotypes | Next-generation sequencing | Medical records | Diagnosis | Genotypes | Acuity
Journal Article
Journal of Allergy and Clinical Immunology. In Practice, ISSN 2213-2198, 02/2019, Volume 7, Issue 2, p. 754
Journal Article
Acta Neurologica Belgica, ISSN 0300-9009, 2019
Journal Article
Clinical Kidney Journal, ISSN 2048-8505, 10/2019, Volume 12, Issue 5, pp. 641 - 644
Abstract A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney... 
Journal Article
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 02/2019, Volume 7, Issue 2, pp. 754 - 755
Journal Article
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 02/2019, Volume 7, Issue 2, pp. 754 - 755
Journal Article
Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 02/2019, Volume 7, Issue 2, pp. 754 - 755
Journal Article
Revista Paulista de Pediatria, ISSN 0103-0582, 09/2019, Volume 37, Issue 3, pp. 312 - 317
ABSTRACT Objective: To report the stabilization of urinary glycosaminoglicans (GAG) excretion and clinical improvements in patients with mucopolysaccharidosis... 
Erros inatos do metabolismo | Mucopolissacaridose I | Glicosaminoglicanos | Terapia de reposição de enzimas
Journal Article
Medicine & Science in Sports & Exercise, ISSN 0195-9131, 05/2015, Volume 47, p. 424
Journal Article
Motriz: Revista de Educação Física, ISSN 1980-6574, 09/2018, Volume 24, Issue 2
Abstract AIMS The aims of this study were to investigate and characterize the anthropometric, nutritional, genetic, psychological and sleep variables of slalom... 
elite athletes | exercise performance | canoe slalom | simulated race | multifactorial analysis
Journal Article
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