Biochemical Genetics
Mostrando 1-12 de 96 artigos, teses e dissertações.
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1. The clinical genetics of phaeochromocytoma and paraganglioma
ABSTRACT Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours.
Arch. Endocrinol. Metab.. Publicado em: 2017-09
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2. Genetic structure of Argentinean hexaploid wheat germplasm
The identification of genetically homogeneous groups of individuals is an ancient issue in population genetics and in the case of crops like wheat, it can be valuable information for breeding programs, genetic mapping and germplasm resources. In this work we determined the genetic structure of a set of 102 Argentinean bread wheat (Triticum aestivum L.) elite
Genet. Mol. Biol.. Publicado em: 2013
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3. Marcadores microssatélites aplicados ao estudo da estrutura sociogenética de Mischocyttarus cassununga von Ihering, 1903 (Hymenoptera, Vespidae, Mischocyttarini)
Mischocyttarus cassununga é uma espécie de vespa da subfamília Polistinae, endêmica do Brasil comumente encontrada em ambientes urbanos e que apresenta comportamento primitivamente eussocial, com fundação de ninho do tipo independente. Nestas vespas as colônias podem ser fundadas por uma única fêmea ou por um pequeno grupo de fêmeas; neste último
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 29/03/2012
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4. Prospecção de genes codificadores de enzimas lipolíticas em biblioteca metagenômica de consórcio microbiano degradador de óleo diesel. / Screening for lipolytic enzyme codification genes in a metagenomic library of consortia specialized in diesel oil degradation.
As enzimas lipolíticas vêm atraindo atenção no mercado global devido ao enorme potencial biotecnológico, como: na formulação de detergentes; na indústria de couro; produção de cosméticos, fármacos, aromas, biodiesel, etc. O objetivo deste trabalho foi prospectar genes codificadores de enzimas lipolíticas em biblioteca metagenômica de um consór
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 03/03/2011
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5. Efeito dos herbicidas ametrina e clomazone no sitema antioxidante bacteriano / Effect of herbicides ametrina and clomazone on bacterial antioxidant system
Os herbicidas ametrina e clomazone são amplamente utilizados na cultura de cana-deaçúcar, apresentam degradação essencialmente microbiana e são considerados contaminantes de solos e águas. A exposição dos microrganismos a estes xenobióticos pode resultar em dano oxidativo devido ao aumento na produção de espécies reativas de oxigênio (EROs). Es
Publicado em: 2011
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6. A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are res
Publicado em: 2010
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7. Biochemical diagnosis of creatine deficiency syndromes / Diagnóstico bioquímico das síndromes de deficiência de creatina
Recently, a new group of inborn errors of metabolism, collectively named as creatine deficiency syndrome, was identified. Three genetically determined presentations are currently known, affecting both creatine synthesis and transport. Clinical presentation spectrum is non-specific and includes developmental delay, hypotonia, involuntary movements as choreoat
Publicado em: 2010
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8. Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients. Scalco et al. Genetics and Molecular Biology (this issue)
Genetics and Molecular Biology. Publicado em: 2006
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9. Ethylene and fruit ripening: from illumination gas to the control of gene expression, more than a century of discoveries
The effects of ethylene on plants have been recognized since the Nineteenth Century and it is widely known as the phytohormone responsible for fruit ripening and for its involvement in a number of plant growth and development processes. Elucidating the mechanisms involved in the ripening of climacteric fruit and the role that ethylene plays in this process h
Genetics and Molecular Biology. Publicado em: 2006
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10. A hipertensão arterial refrataria : caracterização fenotipica, avalliação cardiovascular morfo-funcional e correlação com polimorfismos geneticos de sistema renina-angiotensina e da sintase endotelial do oxido nitrico / Refractory hypertension : phenotypic characterization, cardiovascular morpho-functional assesssment and correlation with the renin-angiotensin-aldosterene and endothelial nitric oxide synthase gene polymorphisms
Refractory hypertension (HAR) is defined, according to the Seventh Joint National Committee (JNC VII), when the systolic arterial pressure remains above 140 mmHg and the diastolic arterial pressure above 90 mmHg even when taking three or more classes of anti-hypertensive agents including full-dose of a diuretic and the other agents at sub maximum doses with
Publicado em: 2006
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11. Genetics of Somatic Mammalian Cells: Biochemical Genetics of Chinese Hamster Cell Mutants with Deviant Purine Metabolism
Studies are presented on the biochemical genetics of 30 adenine-requiring mutants of the Chinese hamster ovary cell which were induced by mutagenesis and selected by the BrdU-visible light technique. Representative experiments conducted with these mutants include: hybridization with each other; hybridization with normal human cells; nutritional analysis; bio
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12. Biochemical genetics