Dominant Negative
Mostrando 1-12 de 2297 artigos, teses e dissertações.
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1. 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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2. CARTA AO EDITOR SOBRE O MANUSCRITO: O FENÔMENO DE DOSE-RESPOSTA ASSOCIADO AO TREINAMENTO DE FORÇA É INDEPENDENTE DO VOLUME DE SÉRIES E REPETIÇÕES POR SESSÃO
Abstract The aim of this study was to evaluate the performance of Caspian Sea-style spontaneous milk fermentation to improve the quality of pasteurized milk containing high levels of Pseudomonas contamination, with a focus on microbiological safety and stability of the final product. Bacterial diversity of pasteurized milk, fermentation process, and after 60
Rev Bras Med Esporte. Publicado em: 2021-06
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3. Presence and persistence of Pseudomonas sp. during Caspian Sea-style spontaneous milk fermentation highlights the importance of safety and regulatory concerns for traditional and ethnic foods
Abstract The aim of this study was to evaluate the performance of Caspian Sea-style spontaneous milk fermentation to improve the quality of pasteurized milk containing high levels of Pseudomonas contamination, with a focus on microbiological safety and stability of the final product. Bacterial diversity of pasteurized milk, fermentation process, and after 60
Food Sci. Technol. Publicado em: 2021-06
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4. High rates of agricultural gypsum affect the arbuscular mycorrhiza fungal community and coffee yield
ABSTRACT High rates of agricultural gypsum, above the recommended levels, have been used on a regular basis to deepen plant roots and to alleviate recurrent water stress in Cerrado areas. However, very little is known about the consequences of this practice to arbuscular mycorrhizal fungi (AMF). Therefore, the objective of this study was to evaluate whether
Bragantia. Publicado em: 2020-12
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5. Study using a CFD approach of the efficiency of a roof ventilation closure system in a multi-tunnel greenhouse for nighttime microclimate optimization
ABSTRACT The thermal efficiency of naturally ventilated greenhouses is limited due to the permanent exchange of air through the vents, especially during the night hours. The objective of the work consisted in evaluating a system of inflatable air ducts that close the roof vents during the night as a strategy to reduce the energy loss during these hours. For
Rev. Ceres. Publicado em: 2020-10
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6. Multiple renal tumorectomy in a Von Hipple Lindau patient. Combined retro/transperitoneal approach with intracorporeal hypotermia
ABSTRACT Objective & Introduction: To show the feasibility of a combined transperitoneal (TP) and retroperitoneal (RP) laparoscopic approach in a Von Hipple-Lindau (VHL) patient with multiple kidney tumors. VHL is an autosomal dominant inherited syndrome characterized by a high incidence of benign and malignant tumors and cysts in many organs. Renal cell ca
Int. braz j urol.. Publicado em: 20/12/2019
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7. A categoria ideologia em Marx e a questão da falsa consciência
Resumo O presente artigo versa sobre a categoria ideologia em Marx e seu debate em torno da questão da falsa consciência. Para tanto, se baseia nas formulações de Marx sobre alienação e fetichismo da mercadoria, que possibilitam apreender esta categoria. Posteriormente, expõe uma aproximação ao debate corrente na tradição marxista, por meio de alg
Rev. katálysis. Publicado em: 14/11/2019
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8. Theory of mind impairment in Huntington's disease patients and their relatives
ABSTRACT Huntington disease (HD) is an autosomal dominant genetic disorder characterized by movement disorders, cognitive impairment, and psychiatric symptoms. Relatives of HD patients experience a great burden as the latter suffer from altered social conduct and deterioration of interpersonal relationships. Theory of mind (ToM) is the ability to attribute m
Arq. Neuro-Psiquiatr.. Publicado em: 05/09/2019
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9. The TNM 8th edition: Validation of the proposal for organ - confined (pT2) prostate cancer
ABSTRACT Purpose: The 8th edition of the TNM has been updated and improved in order to ensure a high degree of clinical relevance. A major change in prostate includes pathologically organ - confined disease to be considered pT2 and no longer subclassified by extent of involvement or laterality. The aim of this study was to validate this major change. Mater
Int. braz j urol.. Publicado em: 27/05/2019
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10. Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil
Resumo Justificativa e objetivo: Hipertermia maligna é uma síndrome farmacogenética hipermetabólica, autossômica dominante, com mortalidade entre 10%-20%, desencadeada por uso de anestésico inalatório halogenado ou relaxante muscular succinilcolina. O padrão-ouro para pesquisa de suscetibilidade à hipertermia maligna é o teste de contratura muscul
Rev. Bras. Anestesiol.. Publicado em: 25/04/2019
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11. A rare mutation in hypophosphatasia: a case report of adult form and review of the literature
SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-osseous and arthritic complications featuring tooth loss
Arch. Endocrinol. Metab.. Publicado em: 2019-01
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12. Effect of alcoholic beverages on progeny and reproduction of mice
ABSTRACT Alcohol is the most commonly consumed substance in the world. The objective of this study was to evaluate the influence of alcoholic beverages on male reproduction and possible alterations in their offspring. The mice were divided into 4 groups: beer, wine, cachaça (a type of sugarcane rum), with ethanol concentrations of 1.9 g/kg, and control grou
Braz. J. Pharm. Sci.. Publicado em: 05/03/2018