Genetic Mutation
Mostrando 1-12 de 4116 artigos, teses e dissertações.
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1. Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Abstract Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal
Jornal de Pediatria. Publicado em: 2022
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2. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these
Archives of Endocrinology and Metabolism. Publicado em: 2022
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3. Bibliometric analysis of global sickle cell disease research from 1997 to 2017
Abstract Introduction Sickle cell disease is an autosomal recessive genetic disease caused by a single point mutation in the β-globin chain of the hemoglobin. It has been recognized by the World Health Organization as a public health priority since 2006. Methods The Scopus database was used in this study with the search descriptors: “sickle cell” and
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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4. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. A meta-analysis: association between Beta-2 adrenergic receptor Arg16Gly polymorphism and asthma in China
Abstract For different populations, the association studies between the beta-2 adrenergic receptor (ADRB2) Arg16Gly mutation and asthma are conflict. This study was designated to evaluate ADRB2 Arg16Gly polymorphism and asthma in Chinese population. Systemic assessment was performed based on the data from PubMed, Embase, Web of Science, the Cochrane Library,
Food Sci. Technol. Publicado em: 2021-09
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6. Genetics of COVID-19
Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of thera
J. Pediatr. (Rio J.). Publicado em: 2021-08
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7. What can we learn from measuring IgE to allergens and allergen components in tropical and subtropical settings in Brazil?
Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of thera
J. Pediatr. (Rio J.). Publicado em: 2021-08
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8. Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
ABSTRACT Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease. Materials and methods: We invited all endocrinologists (n = 205), nephrologists (n = 221), orthopedic surgeons (n = 1020), and pediatricians (n = 1000) in
Arch. Endocrinol. Metab.. Publicado em: 2020-12
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9. Multidisciplinary diagnostics of chronic lymphocytic leukemia: European Research Initiative on CLL - ERIC recommendations
ABSTRACT Recent advances in chronic lymphocytic leukemia (CLL) includes description of disease genomic landscape, inclusion of prognostic relevant genetic tests in CLL workflow and evaluation of minimal residual disease (MRD)1 in parallel with the increase availability of novel therapy agents.In this review, the theoretical and practical aspects of response
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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10. Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiag
Genet. Mol. Biol.. Publicado em: 20/01/2020
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11. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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12. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020