R337h Mutation
Mostrando 1-10 de 10 artigos, teses e dissertações.
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1. Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53
Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Se
Genet. Mol. Biol.. Publicado em: 03/06/2016
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2. Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Abstract Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer bu
Genet. Mol. Biol.. Publicado em: 24/05/2016
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3. DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic an
Braz J Med Biol Res. Publicado em: 28/04/2015
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4. Espectro tumoral e alterações moleculares associadas à tumorigênese em portadores da mutação TP53 R337H / Tumor spectrum and molecular changes associated to tumorigenesis in carriers of TP53 R337H mutation
O gene supressor de tumor TP53 é um dos mais bem caracterizados genes cujo papel na etiologia é conhecido tanto em tumores hereditários como esporádicos. Mutações germinativas neste gene normalmente estão associadas à Síndrome de Li-Fraumeni, uma síndrome de predisposição ao câncer cujos portadores apresentam alto risco de desenvolvimento de uma
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 27/03/2012
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5. Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients
INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are t
Clinics. Publicado em: 2009-05
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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. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
The incidence of pediatric adrenal cortical carcinoma (ACC) in southern Brazil is 10–15 times higher than that of pediatric ACC worldwide. Because childhood ACC is associated with Li-Fraumeni syndrome, we examined the cancer history and p53 status of 36 Brazilian patients and their families. Remarkably, 35 of 36 patients had an identical germ-line point mu
The National Academy of Sciences.
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8. Mapping to molecular resolution in the T to H-2 region of the mouse genome with a nested set of meiotic recombinants.
We describe a meiotic fine-structure mapping strategy for achieving molecular access to developmental mutations in the mouse. The induction of lethal point mutations with the potent germ-line mutagen N-ethyl-N-nitrosourea has been reported. One lethal mutation of prime interest is an allele at the quaking locus on chromosome 17. To map this mutation, quaking
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9. Detection of Clarithromycin-Resistant Helicobacter pylori Strains by a Preferential Homoduplex Formation Assay
It has been shown that resistance to clarithromycin, a major cause of failure in Helicobacter pylori eradication therapy, is associated with point mutations in the 23S rRNA gene. We sought to apply the preferential homoduplex formation assay (PHFA), a novel technique for the efficient detection of point mutations, to detection of the mutations. PHFA was perf
American Society for Microbiology.
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10. The human clotting factor VIII cDNA contains an autonomously replicating sequence consensus- and matrix attachment region-like sequence that binds a nuclear factor, represses heterologous gene expression, and mediates the transcriptional effects of sodium butyrate.
Expression of the human blood-clotting factor VIII (FVIII) cDNA is hampered by the presence of sequences located in the coding region that repress transcription. We have previously identified a 305-bp fragment within the FVIII cDNA that is involved in the repression (R.C. Hoeben, F.J. Fallaux, S.J. Cramer, D.J.M. van den Wollenberg, H. van Ormondt, E. Briet,