Gene Modifier
Mostrando 1-12 de 177 artigos, teses e dissertações.
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1. Contribution of non-target-site resistance in imidazolinone-resistant Imisun sunflower
ABSTRACT The first commercial herbicide-resistant trait in sunflower (Helianthus annuus L.) is known as ‘Imisun’. Imidazolinone resistance in Imisun cultivars has been reported to be genetically controlled by a major gene (known as Imr1 or Ahasl1-1) and modifier genes. Imr1 is an allelic variant of the Ahasl1 locus that codes for the acetohydroxyacid syn
Bragantia. Publicado em: 14/08/2017
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2. Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes re
Genet. Mol. Biol.. Publicado em: 2016-09
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3. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations
Clinics. Publicado em: 2012
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4. Análise de genes modificadores relacionados à gravidade clínica da fibrose cística / Analysis of modifier genes related to the clinical severity in cystic fibrosis
Introduction: Cystic fibrosis (CF) is clinically manifested in various forms of gravity, modulated by different genotypes and environment. While the classes of mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene are well defined as modulators of severity in CF, polymorphisms remain controversial. Objective: To determine whether p
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 25/08/2011
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5. Study of modulators genes associated to mutations in mitochondrial genes in individuals with non-syndromic deafness / Estudos de genes moduladores associados a mutações em genes mitocondriais em individuos com surdez não-sindromica
Hearing loss is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with aminoglycos
Publicado em: 2009
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6. Modificadores de penetrância de mutações germinativas no gene TP53 em famílias brasileiras com diagnóstico clínico da síndrome de Li-Fraumeni e Li-Fraumeni like: impacto dos polimorfismos intragênicos do TP53 e de genes / Genetic modifiers of germline TP53 mutation in Brazilian families with Li-Fraumeni and Li-Fraumeni Like syndromes: impact of TP53 intragenic polymorphisms and p53 regulatory genes
Li-Fraumeni syndrome (LFS) and its variant like (LFL) are associated with germline mutations in the TP53 gene and predispose to a variety of cancers at an earlier age. We analyzed 91 LFS/LFL families from southern Brazil for germline mutations in TP53 and polymorphisms in TP53 (PIN2, PIN3, PEX4) and MDM2 (309T-G). The germline TP53 mutation R337H was found i
Publicado em: 2008
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7. Estudo da etiologia da surdez neurossensorial em recem-nascidos de alto risco / Etiological study of the sensorioneural deafness in high risk newborns
The frequency of sensorioneural hearing loss in high-risk newborns is 20-40 in 1000 births. In many cases, the cause is environmental, due to prenatal, perinatal and postnatal factors, or caused by genetic factors. The main objectives of this project were to determine the etiology of the hearing loss in children admitted into Neonatal Intensive Care Unit (NI
Publicado em: 2008
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8. Investigação da associação entre os polimorfismos dos genes : MBL2, TGF-B1 e CD14 com a gravidade do quadro pulmonar na fibrose cistica / Investigation of the association between polymorphisms of MBL2, TGFB1 and CD4 genes with lung diseases severity in cystic fibrosis
Cystic fibrosis is a genetic alteration characterized mainly by pancreatic and pulmonary manifestations. The genotype-phenotype correlation in cystic fibrosis has been the subject of arduous studies. A correlation between cystic fibrosis and pancreatic insufficiency, as well as to the fact that the occurrence and severity of pulmonary manifestations are not
Publicado em: 2007
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9. Investigação da associação entre os polimorfismos dos genes : MBL2, TGF-B1 e CD14 com a gravidade do quadro pulmonar na fibrose cistica / Investigation of the association between polymorphisms of MBL2, TGFB1 and CD4 genes with lung diseases severity in cystic fibrosis
A Fibrose Cística é uma alteração genética que cursa principalmente com manifestações pulmonares e pancreáticas. A correlação genótipo-fenótipo da fibrose cística é motivo de árduos estudos. Somente a correlação com a insuficiência pancreática foi encontrada. Percebeu-se, também, que o curso e a gravidade da manifestação pulmonar não e
Publicado em: 2007
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10. Fatores geneticos moduladores da gravidade clinica nas Beta-talassemias : o exemplo da proteina AHSP (Alpha Hemoglobin Stabilizing Protein)
Alpha-hemoglobin stabilizing protein (AHSP) is an erythroid-specific molecular chaperone that binds the cx-chains of hemoglobin, preventing their precipitation and deleterious effects. Loss of AHSP exacerbates a-globin precipitation and anemia in a murine model for p-thalassemia. In vitro, recombinant AHSP inhibits the production of reactive oxygen species (
Publicado em: 2006
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11. Conversion of elite inbred lines into Quality Protein Maize (QPM). 2003. / ConversÃo de linhagens elites em milho de alta qualidade protÃica (QPM).
The current study was developed to evaluate the potential of the modified backcross procedure proposed by GuimarÃes et al. (2000), and the molecular markers to increase the efficiency in conversion projects of elite inbred lines into Quality Protein Maize. First, it was evaluated the association of the SSR markers umc1066, phi057 and phi112 with the opaque-
Publicado em: 2003
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12. Régénération Hépatique et Transfert de Gènes
Le transfert de gène dans le foie pourrait représenter une alternative à la transplantation hépatique pour traiter certaines maladies métaboliques. Plusieurs vecteurs ont été décrits pour réaliser un transfert de gène, notamment des vecteurs rétroviraux dont lintégration à lADN chromosomique permettrait une expression stable à long terme du tra
Publicado em: 1999