Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Science ; 305(5692): 1966-8, 2004 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-15448271

RESUMO

We present the genomic sequence of Legionella pneumophila, the bacterial agent of Legionnaires' disease, a potentially fatal pneumonia acquired from aerosolized contaminated fresh water. The genome includes a 45-kilobase pair element that can exist in chromosomal and episomal forms, selective expansions of important gene families, genes for unexpected metabolic pathways, and previously unknown candidate virulence determinants. We highlight the genes that may account for Legionella's ability to survive in protozoa, mammalian macrophages, and inhospitable environmental niches and that may define new therapeutic targets.


Assuntos
Genoma Bacteriano , Legionella pneumophila/genética , DNA Bacteriano , Transferência Genética Horizontal , Legionella pneumophila/patogenicidade , Legionella pneumophila/fisiologia , Plasmídeos
2.
Nat Genet ; 30(3): 335-41, 2002 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11810107

RESUMO

The epilepsies are a common, clinically heterogeneous group of disorders defined by recurrent unprovoked seizures. Here we describe identification of the causative gene in autosomal-dominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. We constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes (Fig. 1) and resequenced all or part of 21 genes before identifying presumptive mutations in one copy of the leucine-rich, glioma-inactivated 1 gene (LGI1) in each of five families with ADPEAF. Previous studies have indicated that loss of both copies of LGI1 promotes glial tumor progression. We show that the expression pattern of mouse Lgi1 is predominantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Discovery of LGI1 as a cause of ADPEAF suggests new avenues for research on pathogenic mechanisms of idiopathic epilepsies.


Assuntos
Doenças Auditivas Centrais/genética , Epilepsia/genética , Genes Dominantes , Mutação , Proteínas/genética , Animais , Doenças Auditivas Centrais/complicações , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Humanos Par 10 , DNA , Epilepsia/complicações , Feminino , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Linhagem , Reação em Cadeia da Polimerase Via Transcriptase Reversa
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...