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M Prats 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1980,291(12):941-944
H-flavocytochrome b2, a tetramer enzyme, is inactivated, at low ionic strength and can be reactivated, increasing the ionic strength of the medium. The inactivation-reactivation process was structurally manifested by a dissociation-association phenomenon between subunits. It was clearly shown that the inactivation-dissociation process appeared independent of enzyme concentration whereas the reactivation-association phenomenon was enzyme concentration dependent. However, proteins protect H-flavocytochrome b2 from inactivation-dissociation, only when electrostatic interactions are possible between the two proteins: Horse heart cytochrome c was a good protector whereas serum albumin had no protector effect. 相似文献
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy 总被引:7,自引:0,他引:7
Kuhlenbäumer G Hannibal MC Nelis E Schirmacher A Verpoorten N Meuleman J Watts GD De Vriendt E Young P Stögbauer F Halfter H Irobi J Goossens D Del-Favero J Betz BG Hor H Kurlemann G Bird TD Airaksinen E Mononen T Serradell AP Prats JM Van Broeckhoven C De Jonghe P Timmerman V Ringelstein EB Chance PF 《Nature genetics》2005,37(10):1044-1046
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis. 相似文献
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Lambrechts D Storkebaum E Morimoto M Del-Favero J Desmet F Marklund SL Wyns S Thijs V Andersson J van Marion I Al-Chalabi A Bornes S Musson R Hansen V Beckman L Adolfsson R Pall HS Prats H Vermeire S Rutgeerts P Katayama S Awata T Leigh N Lang-Lazdunski L Dewerchin M Shaw C Moons L Vlietinck R Morrison KE Robberecht W Van Broeckhoven C Collen D Andersen PM Carmeliet P 《Nature genetics》2003,34(4):383-394
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Gudmundsson J Sulem P Gudbjartsson DF Jonasson JG Masson G He H Jonasdottir A Sigurdsson A Stacey SN Johannsdottir H Helgadottir HT Li W Nagy R Ringel MD Kloos RT de Visser MC Plantinga TS den Heijer M Aguillo E Panadero A Prats E Garcia-Castaño A De Juan A Rivera F Walters GB Bjarnason H Tryggvadottir L Eyjolfsson GI Bjornsdottir US Holm H Olafsson I Kristjansson K Kristvinsson H Magnusson OT Thorleifsson G Gulcher JR Kong A Kiemeney LA Jonsson T Hjartarson H Mayordomo JI Netea-Maier RT 《Nature genetics》2012,44(3):319-322
To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic individuals with thyroid cancer (cases) and up to 40,013 controls. Variants suggestively associated with thyroid cancer (P < 0.05) were genotyped in an additional 595 non-Icelandic cases and 2,604 controls. After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; P(combined) = 1.3 × 10(-9)), rs2439302 on 8p12 (OR = 1.36; P(combined) = 2.0 × 10(-9)) and rs116909374 on 14q13.3 (OR = 2.09; P(combined) = 4.6 × 10(-11)), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. A strong association (P = 9.1 × 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood. 相似文献
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