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1.
A closely linked genetic marker for cystic fibrosis 总被引:8,自引:0,他引:8
R White S Woodward M Leppert P O'Connell M Hoff J Herbst J M Lalouel M Dean G Vande Woude 《Nature》1985,318(6044):382-384
Cystic fibrosis is a recessive genetic disorder, characterized clinically by chronic obstructive lung disease, pancreatic insufficiency and elevated sweat electrolytes; affected individuals rarely live past their early twenties. Cystic fibrosis is also one of the most common genetic diseases in the northern European population. The frequency of carriers of mutant alleles in some populations is estimated to be as high as 1 in 20, carrying a concomitant burden of about one affected child in 1,500 births. Because little is known of the essential biochemical defect caused by the mutant gene, a genetic linkage approach based on arbitrary genetic markers and family studies is indicated to determine the chromosomal location of the cystic fibrosis (CF) gene. We have now obtained evidence for tight linkage between the CF locus and a DNA sequence polymorphism at the met oncogene locus. This evidence, combined with the physical localization data for the met locus presented in the accompanying paper, places the CF locus in the middle third of the long arm of chromosome 7, probably between bands q21 and q31. 相似文献
2.
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis 总被引:2,自引:0,他引:2
Kabashi E Valdmanis PN Dion P Spiegelman D McConkey BJ Vande Velde C Bouchard JP Lacomblez L Pochigaeva K Salachas F Pradat PF Camu W Meininger V Dupre N Rouleau GA 《Nature genetics》2008,40(5):572-574
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis. 相似文献
3.
de Boer VC van Schothorst EM Dihal AA van der Woude H Arts IC Rietjens IM Hollman PC Keijer J 《Cellular and molecular life sciences : CMLS》2006,63(23):2847-2858
Dietary quercetin intake is suggested to be health promoting, but this assumption is mainly based on mechanistic studies performed
in vitro. Previously, we identified rat lung as a quercetin target tissue. To assess relevant in vivo health effects of quercetin, we analyzed mechanisms of effect in rat lungs of a chronic (41 weeks) 1% quercetin diet using
whole genome microarrays. We show here that fatty acid catabolism pathways, like beta-oxidation and ketogenesis, are up-regulated
by the long-term quercetin intervention. Up-regulation of genes (Hmgcs2, Ech1, Acox1, Pcca, Lpl and Acaa2) was verified and confirmed by quantitative real time PCR. In addition, free fatty acid levels were decreased in rats fed
the quercetin diet, confirming that quercetin affects fatty acid catabolism. This in vivo study demonstrates for the first time that fatty acid catabolism is a relevant process that is affected in rats by chronic
dietary quercetin.
Received 6 July 2006; received after revision 29 August 2006; accepted 28 September 2006 相似文献
4.
J. S. Vande Berg 《Cellular and molecular life sciences : CMLS》1972,28(6):660-662
Résumé Des études structurales fonctionelles suggèrent une function méchanoréceptive pour le S. trichoidea sur l'antenne de la phalèneManduca sexta. Les soies de ses antennes sont innervées par un seul neurone bipolaire, dans lequel la dentrite est couronnée par une cellule scolopale. Les pointes positives dont l'amptitude varient ont été enregistrées sur le nerf antennal avec déplacement transversal des soies antennales. 相似文献
5.
6.
J. S. Vande Berg 《Cellular and molecular life sciences : CMLS》1974,30(9):1025-1027
Résumé Le dibutyryle et l'AMP cyclique ont apparement un effet sur la conductibilité membraneuse. Cet effet se marque par une réduction d'amplitude et de vitesse de conductibilité aussi bien que par une augmentation du seuil à atteindre et du retard dans l'élaboration du processus. Ces effets ont été confirmés par la théophylline et la caféine. Les ions de calcium semblent accélérer les effets du AMP cyclique en augmentant la résistance membraneuse (réduction d'amplitude de l'impulsion nerveuse) de 30%. 相似文献
7.
The simian virus 40 (SV40) 72-base pair (bp) tandem-repeated sequences have a crucial role as an activator element in viral gene expression. We replaced the SV40 72-bp repeat with a 72-bp repeat derived from the long terminal repeat (LTR) of cloned Moloney murine sarcoma virus (MSV) DNA. Although there is no detectable sequence homology to SV40, the MSV repeats can substitute functionally for the SV40 repeats and generate a viable virus in monkey kidney cells. 相似文献
8.
Specific proteolysis of the c-mos proto-oncogene product by calpain on fertilization of Xenopus eggs 总被引:32,自引:0,他引:32
The Xenopus c-mos proto-oncogene product, pp39mos, accumulates in the unfertilized egg during maturation, is hyperphosphorylated and exhibits protein kinase activity. On fertilization, or soon after the completion of meiosis, the accumulated pp39mos undergoes selective proteolysis. Using an in vitro protease assay system, we show here that this specific proteolysis is caused by the calcium-dependent cysteine protease, calpain. 相似文献
9.
Non-canonical inflammasome activation targets caspase-11 总被引:1,自引:0,他引:1
Kayagaki N Warming S Lamkanfi M Vande Walle L Louie S Dong J Newton K Qu Y Liu J Heldens S Zhang J Lee WP Roose-Girma M Dixit VM 《Nature》2011,479(7371):117-121
Caspase-1 activation by inflammasome scaffolds comprised of intracellular nucleotide-binding oligomerization domain (NOD)-like receptors (NLRs) and the adaptor ASC is believed to be essential for production of the pro-inflammatory cytokines interleukin (IL)-1β and IL-18 during the innate immune response. Here we show, with C57BL/6 Casp11 gene-targeted mice, that caspase-11 (also known as caspase-4) is critical for caspase-1 activation and IL-1β production in macrophages infected with Escherichia coli, Citrobacter rodentium or Vibrio cholerae. Strain 129 mice, like Casp11(-/-) mice, exhibited defects in IL-1β production and harboured a mutation in the Casp11 locus that attenuated caspase-11 expression. This finding is important because published targeting of the Casp1 gene was done using strain 129 embryonic stem cells. Casp1 and Casp11 are too close in the genome to be segregated by recombination; consequently, the published Casp1(-/-) mice lack both caspase-11 and caspase-1. Interestingly, Casp11(-/-) macrophages secreted IL-1β normally in response to ATP and monosodium urate, indicating that caspase-11 is engaged by a non-canonical inflammasome. Casp1(-/-)Casp11(129mt/129mt) macrophages expressing caspase-11 from a C57BL/6 bacterial artificial chromosome transgene failed to secrete IL-1β regardless of stimulus, confirming an essential role for caspase-1 in IL-1β production. Caspase-11 rather than caspase-1, however, was required for non-canonical inflammasome-triggered macrophage cell death, indicating that caspase-11 orchestrates both caspase-1-dependent and -independent outputs. Caspase-1 activation by non-canonical stimuli required NLRP3 and ASC, but caspase-11 processing and cell death did not, implying that there is a distinct activator of caspase-11. Lastly, loss of caspase-11 rather than caspase-1 protected mice from a lethal dose of lipopolysaccharide. These data highlight a unique pro-inflammatory role for caspase-11 in the innate immune response to clinically significant bacterial infections. 相似文献
10.
Expression of c-mos proto-oncogene transcripts in mouse tissues 总被引:34,自引:0,他引:34