Mutation
Mostrando 13-24 de 21608 artigos, teses e dissertações.
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13. 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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14. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected
Archives of Endocrinology and Metabolism. Publicado em: 2022
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15. Art and science: impact of semioccluded vocal tract exercises and choral singing on quality of life in subjects with congenital GH deficiency
ABSTRACT Objectives: Currently, not much is known about the interactions between voice and growth hormone (GH). We have described large kindred with isolated GH deficiency (IGHD) due to a GHRH receptor mutation, resulting in severe short stature and high-pitched voice. These IGHD individuals have little interest in GH treatment, as they consider themselves
Archives of Endocrinology and Metabolism. Publicado em: 2022
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16. Characterization of BRAF mutation in patients older than 45 years with well-differentiated thyroid carcinoma
Resumo Introdução: O carcinoma papilífero de tireoide é a neoplasia endócrina mais frequente e sua incidência triplicou nos últimos 35 anos. Embora o carcinoma papilífero de tireoide tenha um bom prognóstico, 1% a 30% dos pacientes desenvolvem recorrência e metástase. Algumas características clínicas e genéticas estão associadas a um pior pro
Brazilian Journal of Otorhinolaryngology. Publicado em: 2022
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17. 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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18. 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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19. 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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20. A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma
SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodu
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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21. Apoplexy in sporadic pituitary adenomas: a single referral center experience and AIP mutation analysis
ABSTRACT Objective: To analyze the clinical, laboratory, and radiological findings and management of patients with clinical pituitary apoplexy and to screen for aryl hydrocarbon receptor-interacting protein (AIP) mutations. Subjects and methods: The clinical findings were collected from the medical records of consecutive sporadic pituitary adenoma patients
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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22. Structure of prodigiosin from Serratia marcescens NJZT-1 and its cytotoxicity on TSC2-null cells
Abstract Prodigiosin, a secondary metabolite extracted from Serratia marcescens (S. marcescens), could induce apoptosis in various cancer cells, with however low toxicity on normal cells. The red pigment was extracted from a strain S. marcescens NJZT-1 isolated from soil, which had antibacterial activity. Spectral analyses (LC-ESI-MS, UV-VIS spectrophotometr
Food Sci. Technol. Publicado em: 2021-06
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23. Generation of hematopoietic stem/progenitor cells with sickle cell mutation from induced pluripotent stem cell in serum-free system
ABSTRACT Introduction Sickle cell disease (SCD) is a monogenic disease and it is estimated that 300,000 infants are born annually with it. Most treatments available are only palliative, whereas the allogeneic hematopoietic stem cell transplantation offers the only potential cure for SCD. Objective Generation of human autologous cells, when coupled with ind
Hematol., Transfus. Cell Ther.. Publicado em: 2021-06
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24. PER UN LEXICON POLITOLOGICO LATINOAMERICANO DE-COLONIALE: O HOMEM CORDIAL, ALTER EGO DELL’HOMBRE CORDIAL
Abstract The 2016 critical edition of Raízes do Brasil, recomposing the corpus of the five editions published by Sérgio Buarque de Holanda between 1936 and 1969, makes it clear how the initial positive connotation of the metaphor o homem cordial has changed into a negative one. The first translations - into Italian (1954) and into Spanish-American (1955) -
Cad. Trad.. Publicado em: 2021-04