Mutation Biology
Mostrando 13-24 de 119 artigos, teses e dissertações.
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13. Triagem de mutação no éxon 3 do gene IRF6 em indivíduos com fissura labiopalatina e agenesia dentária: padronização de protocolo para seqüenciamento de DNA genômico a partir de saliva / Screening of mutation in IRF6 gene of subjects with cleft lip and palate and tooth agenesis: protocol standardization for sequencing of genomic DNA extracted from saliva
Cleft lip and palate and tooth agenesis are considered changes in embryonic development. These phenotypes occur as a result of the interaction of genetic and environmental factors, suggesting a multifactorial inheritance pattern. Among the candidate genes for these phenotypes IRF6 appears as one of the most important. Direct sequencing, among other technique
Publicado em: 2009
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14. Mutations and polymorphisms analysis in PAX6 gene of patients with Aniridia and Morning Glory Syndrome / Analise de mutações e polimorfismo no gene PAX6 em pacientes com aniridia e sindrome do Morning-Glory
O gene PAX6 é o principal gene para o controle da organização do sistema ocular durante a embriogênese. Este gene pertence a uma família de reguladores de transcrição denominada PAX, sendo que seus membros compartilham um domínio funcional de 128 aminoácidos chamado de paired domain. O PAX6 é o mais bem estudado dessa família. O gene PAX6 está lo
Publicado em: 2009
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15. Application of molecular information in sustainable animal breeding
Livestock genomics is aimed at dissecting the genetic control of variation in economically important trait, such as disease resistance and product yield/quality. Unraveling the genetic control of such complex traits remains very challenging but farm animals are now well placed to bridge the gap between human biology and traditional model species. Livestock s
Revista Brasileira de Zootecnia. Publicado em: 2008-07
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16. Caracterização molecular da fenilcetonuria em pacientes da região de Campinas / Molecular characterization of phenylketonuria in patients of Campinas region
Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by deficiency of the hepatic phenylalanine-4-hydroxylase (PAH), which catalyzes hydroxylation of phenylalanine to tyrosine. Deficiency of PAH is caused by mutations in the PAH gene, resulting in high serum levels of phenylalanine and mental retardation. Restriction of phenylalanine intak
Publicado em: 2008
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17. Bases moleculares do efeito do pH na atividas catalítica de duas lisozimas digestivas de Musca domestica (Diptera) / Molecular basis of the pH effect on the catalytic activity of two digestive lysozymes from Musca domestica (Diptera)
Lysozymes are enzymes that are part of the defence mechanism against bacteria, however lysozymes with digestive function are also found in the digestive tract of vertebrates and in the insect midgut. The digestive lysozymes from insects are c type, so they share similar structural and mechanistic characteristics with hen egg-white lysozyme (HEWL). However, t
Publicado em: 2008
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18. Epidemiologia molecular dos vírus dengue em Goiânia-GO, 1994 - 2006: vigilância laboratorial e caracterização dos sorotipos circulares / Molecular epidemiology of dengue virus in Goiânia, 1994-2006: laboratorial surveillance and characterization of circulate serotypes
Nowadays, dengue constitute the major public health problem, because is relevant cause of illness and death between thousands people that resident in the tropical and subtropical regions in world. The dengue virus is classified as four serotypes (DENV-1, 2, 3 and 4) according to antigenic differences and characterized intra-typical groups called genotypes. T
Publicado em: 2008
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19. Análise molecular do gene FOXL2 em mulher com síndrome blefarofimose ptose epicanto inverso com falência ovariana prematura
Premature ovarian failure (POF) is a disorder with very important repercussions for woman life, either regarding the end of reproductive lifespan or the consequent estrogenic hormonal deficiency. The number of POF causes is quite a lot, including infectious diseases as well as immunologyc, iatrogenic and genetic disorders. Since the advances in past decades
Publicado em: 2007
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20. Extinction of canid populations by inbreeding depression under stochastic environments in Southwestern Goiás State: a simulation study
A frequently addressed question in conservation biology is what is the chance of survival for a population for a given number of years under certain conditions of habitat loss and human activities. This can be estimated through an integrated analysis of genetic, demographic and landscape processes, which allows the prediction of more realistic and precise mo
Genetics and Molecular Biology. Publicado em: 2007
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21. Estudo das alterações moleculares do gene ABO em doadores de sangue fenotipados como A3 e A3B / ABO gene molecular alterations in blood bank donators phenotyped as A3 e A3B
ABO blood system is the most important blood group in transfusional medicine. Actualy, the blood group type in blood donors and receptors is determined by serological laboratorial tests, complemented by human DNA blood tests that assure the correct blood group determination for the blood donor and receptor, optimizing transfusional safety. Studies on blood s
Publicado em: 2007
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22. Study of 5alph-reductase 2 and 3beta-hydroxysteroid dehydrogenase 2enzymes on ambiguous genital and prostate cancer / Estudo das enzimas 5 alfa -redutase tipo 2 e 3 beta -hidroxi-esteroide desidrogenase tipo 2 na ambiguidade genital e no cancer de prostata
Not informed
Publicado em: 2006
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23. Paracoccidioidomicose experimental : infecção e doença em animais infectados por um isolado atipico da cepa Pb18 / Experimental Paracoccidioidomycoses infection and disease in animals infected by an atypical isolated of Pb18 strain
P. brasiliensis is a dimorphic fungus that grows in mycelial phase at room temperature and in yeast form at 35-37°C. Recently, in the Immunopathology Laboratory of the Department of Microbiology and Immunology (Biology Institute/Unicamp), it was observed that a sample of the virulent strain Pb18 grew in a different way from other ones. Preliminary analysis
Publicado em: 2006
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24. Estudo clinico-molecular e analise da textura epidermica de pacientes com sindrome de Sjogren-Larsson / Molecular genetic study and texture analysis of the epidermis in patients with Sjogren-Larsson Syndrome
Background: Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spasticity. Various mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH) are responsible for the disease but the genotype-phenotype relationships are undefined. Objectives: The purpose of this study
Publicado em: 2006