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1.
Gout AM;ADPKD Gene Variant Consortium Ravine D Harris PC Rossetti S Peters D Breuning M Henske EP Koizumi A Inoue S Shimizu Y Thongnoppakhun W Yenchitsomanus PT Deltas C Sandford R Torra R Turco AE Jeffery S Fontes M Somlo S Furu LM Smulders YM Mercier B Ferec C Burtey S Pei Y Kalaydjieva L Bogdanova N McCluskey M Geon LJ Wouters CH Reiterova J Stekrová J San Millan JL Aguiari G Del Senno L 《Nature genetics》2007,39(4):427-428
2.
Davila S Furu L Gharavi AG Tian X Onoe T Qian Q Li A Cai Y Kamath PS King BF Azurmendi PJ Tahvanainen P Kääriäinen H Höckerstedt K Devuyst O Pirson Y Martin RS Lifton RP Tahvanainen E Torres VE Somlo S 《Nature genetics》2004,36(6):575-577
Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease. 相似文献
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Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma 总被引:3,自引:0,他引:3
Schwartzentruber J Korshunov A Liu XY Jones DT Pfaff E Jacob K Sturm D Fontebasso AM Quang DA Tönjes M Hovestadt V Albrecht S Kool M Nantel A Konermann C Lindroth A Jäger N Rausch T Ryzhova M Korbel JO Hielscher T Hauser P Garami M Klekner A Bognar L Ebinger M Schuhmann MU Scheurlen W Pekrun A Frühwald MC Roggendorf W Kramm C Dürken M Atkinson J Lepage P Montpetit A Zakrzewska M Zakrzewski K Liberski PP Dong Z Siegel P Kulozik AE Zapatka M Guha A Malkin D Felsberg J Reifenberger G 《Nature》2012,482(7384):226-231
Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However, DNA copy number and gene expression signatures indicate differences between adult and paediatric cases. To explore the genetic events underlying this distinction, we sequenced the exomes of 48 paediatric GBM samples. Somatic mutations in the H3.3-ATRX-DAXX chromatin remodelling pathway were identified in 44% of tumours (21/48). Recurrent mutations in H3F3A, which encodes the replication-independent histone 3 variant H3.3, were observed in 31% of tumours, and led to amino acid substitutions at two critical positions within the histone tail (K27M, G34R/G34V) involved in key regulatory post-translational modifications. Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. Somatic TP53 mutations were identified in 54% of all cases, and in 86% of samples with H3F3A and/or ATRX mutations. Screening of a large cohort of gliomas of various grades and histologies (n = 784) showed H3F3A mutations to be specific to GBM and highly prevalent in children and young adults. Furthermore, the presence of H3F3A/ATRX-DAXX/TP53 mutations was strongly associated with alternative lengthening of telomeres and specific gene expression profiles. This is, to our knowledge, the first report to highlight recurrent mutations in a regulatory histone in humans, and our data suggest that defects of the chromatin architecture underlie paediatric and young adult GBM pathogenesis. 相似文献
4.
D. J. McComb N. Ryan E. Horvath K. Kovacs I. Domokos F. A. Laszlo 《Cellular and molecular life sciences : CMLS》1979,35(10):1409-1410
Summary Following 2 weeks of administration of 2-bromo--ergocryptine, a marked decrease was observed in prolactin immunoreactivity of the grafted pituitaries, whereas no reduction was noted in the intrasellar pituitaries. No evidence of crinophagy was revealed by electron microscopy in prolactin cells of 2-bromo--ergocryptine-treated rats.Acknowledgments. This work was supported in part by the Medical Research Council of Canada (grant MA-6349). The excellent technical assistance of Mrs Cynthia Edwards and secretarial help of Mrs Wanda Wlodarski are gratefully acknowledged. 相似文献
5.
C Deteillier P Paris Laszlo 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1978,286(10):781-783
23Na and 39K nuclear magnetic resonance are used to follow the self-assocation of 5'-GMP in aqueous solutions. For a 0,1 M concentration in 5'-GMP, large aggregates are formed only in presence of the potassium ion, at greater than 0.2 M concentrations. They do not appear with the other alkali metal cations. A plausible explantation is inclusion of the cation in the central cavity of 5'-GMP tetramers, with a marked selectivity in favor of potassium. 相似文献
6.
Following 2 weeks of administration of 2-bromo-alpha-ergocryptine, a marked decrease was observed in prolactin immunoreactivity of the grafted pituitaries, whereas no reduction was noted in the intrasellar pituitaries. No evidence of crinophagy was revealed by electron microscopy in prolactin cells of 2-bromo-alpha-ergocryptine-treated rats. 相似文献
7.
Budde BS Namavar Y Barth PG Poll-The BT Nürnberg G Becker C van Ruissen F Weterman MA Fluiter K te Beek ET Aronica E van der Knaap MS Höhne W Toliat MR Crow YJ Steinling M Voit T Roelenso F Brussel W Brockmann K Kyllerman M Boltshauser E Hammersen G Willemsen M Basel-Vanagaite L Krägeloh-Mann I de Vries LS Sztriha L Muntoni F Ferrie CD Battini R Hennekam RC Grillo E Beemer FA Stoets LM Wollnik B Nürnberg P Baas F 《Nature genetics》2008,40(9):1113-1118
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders. 相似文献
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We report 27Al NMR and magnetic susceptibility measurements of Zr and ZrHf-based bulk metallic glasses (BMGs). 27Al NMR Knight shift shows that there exists a clear correlation between the local electronic properties at Al sites and mechanical properties. In addition,magnetic susceptibility measurements also provide clues on the influence of the electronic states,especially the strong influence of d-orbital characteristics on the mechanical properties of toughness and hardness. 相似文献
10.
Aniko Keller-Pinter Sandor Bottka Jozsef Timar Janina Kulka Robert Katona Laszlo Dux Ferenc Deak Laszlo Szilak 《Cellular and molecular life sciences : CMLS》2010,67(11):1881-1894
During mitosis, cells detach, and the cell–matrix interactions become restricted. At the completion of cytokinesis, the two
daughter cells are still connected transiently by an intercellular bridge (ICB), which is subjected to abscission, as the
terminal step of cytokinesis. Cell adhesion to the matrix is mediated by syndecan-4 (SDC4) transmembrane heparan sulfate proteoglycan.
Our present work demonstrated that SDC4 promotes cytokinesis in a phosphorylation-dependent manner in MCF-7 breast adenocarcinoma
cells. The serine179-phosphorylation and the ectodomain shedding of SDC4 changed periodically in a cell cycle-dependent way
reaching the maximum at G2/M phases. On the contrary, the phospho-resistant Ser179Ala mutant abrogated the shedding. The phosphorylated
full-length and shed remnants enriched along the mitotic spindles, and subsequently in the ICBs, however, proper membrane
insertion was necessary for midbody localization. Expression of phosphomimicking Ser179Glu SDC4 resulted in incomplete abscission,
whereas expression of the phospho-resistant SDC4 led to giant, multinucleated cells. 相似文献