Polymorphism Of Exon 31
Mostrando 1-12 de 13 artigos, teses e dissertações.
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1. The rs878081 polymorphism of AIRE gene increases the risk of rheumatoid arthritis in a Chinese Han population: a case-control study
The autoimmune regulator (AIRE), a transcriptional regulator expressed in medullary thymic epithelial cells, plays an important role in thymocyte education and negative selection. Several citations studying the association between the rs878081 exon polymorphism of the AIRE gene and the risk of rheumatoid arthritis (RA) in different populations have yielded c
Braz J Med Biol Res. Publicado em: 01/11/2018
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2. Polymerase chain reaction-based method for the identification of Leishmania (Viannia) braziliensis and Leishmania (Viannia) guyanensis in mucosal tissues conserved in paraffin
ABSTRACTINTRODUCTION: In the Americas, mucosal leishmaniasis is primarily associated with infection by Leishmania (Viannia) braziliensis. However, Leishmania (Viannia) guyanensis is another important cause of this disease in the Brazilian Amazon. In this study, we aimed at detecting Leishmaniadeoxyribonucleic acid (DNA) within paraffin-embedded fragments of
Rev. Soc. Bras. Med. Trop.. Publicado em: 2015-10
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3. Avaliação das características demográficas, clínicas e polimorfismo genético como fatores de risco para o prolapso pélvico em mulheres brasileiras / Collagen type 3 alpha 1 polymorphism as a risk factor for genital prolapse
Objective: To verify the possible association between the presence of the polymorphism in exon 31 of COL3A1 gene and the occurrence of genital prolapse in a sample of the population. Methods: case-control study involving 316 patients staged for pelvic organ prolapse, using the system for quantification of pelvic organ prolapse (POP-Q), standardized by the In
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/05/2010
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4. TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population
TP53, a tumor suppressor gene, has a critical role in cell cycle, apoptosis and cell senescence and participates in many crucial physiological and pathological processes. Identification of TP53 polymorphism in older people and age-related diseases may provide an understanding of its physiology and pathophysiological role as well as risk factors for complex d
Brazilian Journal of Medical and Biological Research. Publicado em: 22/10/2007
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5. Análise de polimorfismos do gene da fibrilina-1 em indivíduos portadores de hérnia inguinal através do seqüenciamento de DNA / Polymorphisms analysis of the fibrillin-1 gene in individuals with inguinal hernia by DNA sequencing
The inguinal hernia is a multifactorial disease that emerge from the Fruchaud orifice, closed only by the transversalis fascia. Lately it has been showed that disorders on the connective tissue elements, as the collagen and elastic fibers, are related to the inguinal hernia genesis. Previous studies have showed structural and quantitative changes of the elas
Publicado em: 2007
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6. The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma
CDKN2A has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutations in CDKN2A may produce an imbalance between functional p16ink4a and cyclin D causing abnormal cell growth. We searched for germline mutations in this gene in 22 patients with clinical criteria of hereditary cancer (early onset, presen
Brazilian Journal of Medical and Biological Research. Publicado em: 2006-02
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7. G to A polymorphism in exon 31 of the COL3A1 gene.
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8. p53 gene mutations in multiple myeloma.
AIM: To assess whether p53 gene mutation is important in the pathogenesis and progression of multiple myeloma. METHODS: Thirty eight DNA samples (derived predominantly from bone marrow) obtained from 31 patients with multiple myeloma were examined for mutations in p53 exons 5-9 by polymerase chain reaction single strand conformation polymorphism. Twenty thre
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9. Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
The major cause of congenital adrenal hyperplasia (CAH), a common recessive genetic disease, is the deficiency of steroid 21-hydroxylase (21OH), a microsomal enzyme encoded by the CYP21 gene. Although several CAH causing mutations have been identified in the CYP21 gene of patients with 21OH deficiency, genotyping of the 21OH locus is quite complex because of
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10. Genetic organization of alpha-bungarotoxins from Bungarus multicinctus (Taiwan banded krait): evidence showing that the production of alpha-bungarotoxin isotoxins is not derived from edited mRNAs.
Two genomic DNAs with a size of approximately 2.8 kb, isolated from the liver of Bungarus multicinctus (Taiwan banded krait), encode the precursors of the long neurotoxins, alpha-Bgt(A31) and alpha-Bgt(V31), respectively. Both genes share virtually identical overall organization with three exons separated by two introns, which were inserted in the same posit
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11. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained in muscle (type IIIb). The molecular basis for this enzymatic variability i
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12. Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.
We examined the molecular defect in two kindreds with "variant" X-linked chronic granulomatous disease (CGD). Western blots of neutrophil extracts showed decreased immunoreactive cytochrome b558 components gp91-phox and p22-phox. Analysis of mRNA demonstrated reduced gp91-phox transcripts, with relative preservation of an alternative mRNA species created by