排序方式: 共有8条查询结果,搜索用时 15 毫秒
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Isolation of an RNA with the properties of haemoglobin messenger 总被引:24,自引:0,他引:24
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A candidate prostate cancer susceptibility gene at chromosome 17p 总被引:23,自引:0,他引:23
Tavtigian SV Simard J Teng DH Abtin V Baumgard M Beck A Camp NJ Carillo AR Chen Y Dayananth P Desrochers M Dumont M Farnham JM Frank D Frye C Ghaffari S Gupte JS Hu R Iliev D Janecki T Kort EN Laity KE Leavitt A Leblanc G McArthur-Morrison J Pederson A Penn B Peterson KT Reid JE Richards S Schroeder M Smith R Snyder SC Swedlund B Swensen J Thomas A Tranchant M Woodland AM Labrie F Skolnick MH Neuhausen S Rommens J Cannon-Albright LA 《Nature genetics》2001,27(2):172-180
It is difficult to identify genes that predispose to prostate cancer due to late age at diagnosis, presence of phenocopies within high-risk pedigrees and genetic complexity. A genome-wide scan of large, high-risk pedigrees from Utah has provided evidence for linkage to a locus on chromosome 17p. We carried out positional cloning and mutation screening within the refined interval, identifying a gene, ELAC2, harboring mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two pedigrees. In addition, two common missense variants in the gene are associated with the occurrence of prostate cancer. ELAC2 is a member of an uncharacterized gene family predicted to encode a metal-dependent hydrolase domain that is conserved among eukaryotes, archaebacteria and eubacteria. The gene product bears amino acid sequence similarity to two better understood protein families, namely the PSO2 (SNM1) DNA interstrand crosslink repair proteins and the 73-kD subunit of mRNA 3' end cleavage and polyadenylation specificity factor (CPSF73). 相似文献
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A Lemay F Labrie G Azadian-Boulanger J P Raynaud 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1978,286(7):527-529
Several subcutaneous administrations of 250 microgram of LHRH (4 or 5 adminstrations at 4-hourly intervals per day) between the 2nd and 7th day post-ovulation in 4 normal women led to early luteolysis as demonstrated by a fall in serum progesterone concentration and early onset (2 to 3 days earlier) of menstruation. 相似文献
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Szabo E Rampalli S Risueño RM Schnerch A Mitchell R Fiebig-Comyn A Levadoux-Martin M Bhatia M 《Nature》2010,468(7323):521-526
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C Auclair L Ferland L Cusan P A Kelly F Labrie G Azadian-Boulanger J P Raynaud 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1978,286(18):1305-1307
A single injection of LHRH to the adult male rat, as of its analog [D-Ala6, des-Gly-NH102] LHRH ethylamide, resulted in a marked decrease in LH receptors in the tests. Plasma testosterone level and the weight of the seminal vesicles and prostate were also decreased after treatment. These data demonstrate that LHRH can decrease the sensitivity of LH receptors and testicular function in the rat. 相似文献
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E Rhéaume J Simard Y Morel F Mebarki M Zachmann M G Forest M I New F Labrie 《Nature genetics》1992,1(4):239-245
Classical 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads. We describe the nucleotide sequence of the two highly homologous genes encoding 3 beta-HSD isoenzymes in three classic 3 beta-HSD deficient patients belonging to two apparently unrelated pedigrees. No mutation was detected in the type I 3 beta-HSD gene, which is mainly expressed in the placenta and peripheral tissues. Both nonsense and frameshift mutations, however, were found in the type II 3 beta-HSD gene, which is the predominant 3 beta-HSD gene expressed in the adrenals and gonads, thus providing the first elucidation of the molecular basis of this disorder. 相似文献
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Matrix metalloproteinase 9 (MMP-9) is one of the most studied enzymes in cancer. MMP-9 can cleave proteins of the extracellular matrix and a large number of receptors and growth factors. Accordingly, its expression must be tightly regulated to avoid excessive enzymatic activity, which is associated with disease progression. Although we know that epigenetic mechanisms play a central role in controlling mmp-9 gene expression, predicting how epigenetic drugs could be used to suppress mmp-9 gene expression is not trivial because epigenetic drugs also regulate the expression of key proteins that can tip the balance towards activation or suppression of MMP-9. Here, we review how our understanding of the biology and expression of MMP-9 could be exploited to augment clinical benefits, most notably in terms of the prevention and management of degenerative diseases and cancer. 相似文献
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L Ferland C Auclair F Labrie G Azadian-Boulanger J P Raynaud 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1978,286(14):1113-1116
The administration of LHRH or of its analog [D-Ala6, des-Gly-NH10(2)] LHRH ethylamide to the female rat on day 10 of gestation resulted in termination of pregnancy and in a marked decrease in ovarian LH receptors and plasma progesterone level. Asingle injection of either compound during diestrus I also led to a decrease in LH receptors. These data demonstrate the high sensitivity of the control of ovarian LH receptors by circulating gonadotrophins and suggest that the contraceptive action of pre- and postcoitally administered LHRH is mediated by negative control of LH receptors. 相似文献
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