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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma 总被引:1,自引:0,他引:1
Bertolotto C Lesueur F Giuliano S Strub T de Lichy M Bille K Dessen P d'Hayer B Mohamdi H Remenieras A Maubec E de la Fouchardière A Molinié V Vabres P Dalle S Poulalhon N Martin-Denavit T Thomas L Andry-Benzaquen P Dupin N Boitier F Rossi A Perrot JL Labeille B Robert C Escudier B Caron O Brugières L Saule S Gardie B Gad S Richard S Couturier J Teh BT Ghiorzo P Pastorino L Puig S Badenas C Olsson H Ingvar C Rouleau E Lidereau R Bahadoran P Vielh P Corda E Blanché H Zelenika D 《Nature》2011,480(7375):94-98
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Transition from haploidy to diploidy 总被引:14,自引:0,他引:14
As a direct consequence of sex, organisms undergo a haploid and a diploid stage during their life cycle. Although the relative duration of haploid and diploid phases varies greatly among taxa, the diploid phase is more conspicuous in all higher organisms. Therefore it is widely believed that diploidy offers more evolutionary possibilities and is thus nearly always selected for. We have now performed computer simulations to investigate one possible advantage of diploidy, that is, protection against the expression of deleterious mutations. Instead of comparing isolated haploid and diploid populations, we considered interbreeding haploids and diploids. Diploids invaded the population only when the dominance degree of a single deleterious mutation was smaller than about 1/2, and the condition allowing diploidy to invade depended on how harmful the mutation was. 相似文献
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Le Goff C Morice-Picard F Dagoneau N Wang LW Perrot C Crow YJ Bauer F Flori E Prost-Squarcioni C Krakow D Ge G Greenspan DS Bonnet D Le Merrer M Munnich A Apte SS Cormier-Daire V 《Nature genetics》2008,40(9):1119-1123
Geleophysic dysplasia is an autosomal recessive disorder characterized by short stature, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death. Studying six geleophysic dysplasia families, we first mapped the underlying gene to chromosome 9q34.2 and identified five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2), which encodes a secreted glycoprotein of unknown function. Functional studies in HEK293 cells showed that ADAMTSL2 mutations lead to reduced secretion of the mutated proteins, possibly owing to the misfolding of ADAMTSL2. A yeast two-hybrid screen showed that ADAMTSL2 interacts with latent TGF-beta-binding protein 1. In addition, we observed a significant increase in total and active TGF-beta in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia. These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia. 相似文献
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P Servant J Y Perrot J L Bourgain G Perrault C Pasquier 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1977,284(20):2031-2034
The temporary immunological depression previously demonstrated after high level head irradiation of adult rabbits seems to be due to decrease in lymphoblastic transformation capacity connected with encephalon injury. 相似文献
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Summary Erythrocyte protoporphyrin have been measured in 14 patients treated for fungal infections by griseofulvin. In 3 cases there was a rise that reached 298/ 100 ml red cells. In 1 case this returned to normal values without interruption of treatment. The red-cell protoporphyrin rise is perhaps secondary to griseofulvin hepatic toxicity. 相似文献
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P Binder L Perrot Y Beaudry C Bottex R Fontanges 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1975,281(20):1545-1547
We studied the effect of neuraminidase injection in rat's tumor at different doses: 5,10,50,100, 500 U and we concluded that: There was no difference between the rats treated with 5,10,50 U and the controls. The y died 3 weeks after the injection. But the rats treated by 100 at 500 U of NA died quickley, in the week, of long metastases. 相似文献
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Saison C Helias V Ballif BA Peyrard T Puy H Miyazaki T Perrot S Vayssier-Taussat M Waldner M Le Pennec PY Cartron JP Arnaud L 《Nature genetics》2012,44(2):174-177
The breast cancer resistance protein, also known as ABCG2, is one of the most highly studied ATP-binding cassette (ABC) transporters because of its ability to confer multidrug resistance. The lack of information on the physiological role of ABCG2 in humans severely limits cancer chemotherapeutic approaches targeting this transporter. We report here that ABCG2 comprises the molecular basis of a new blood group system (Junior, Jr) and that individuals of the Jr(a-) blood type have inherited two null alleles of ABCG2. We identified five frameshift and three nonsense mutations in ABCG2. We also show that the prevalence of the Jr(a-) blood type in the Japanese and European Gypsy populations is related to the p.Gln126* and p.Arg236* protein alterations, respectively. The identification of ABCG2(-/-) (Jr(a-)) individuals who appear phenotypically normal is an essential step toward targeting ABCG2 in cancer and also in understanding the physiological and pharmacological roles of this promiscuous transporter in humans. 相似文献
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