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排序方式: 共有180条查询结果,搜索用时 15 毫秒
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Harakalova M van Harssel JJ Terhal PA van Lieshout S Duran K Renkens I Amor DJ Wilson LC Kirk EP Turner CL Shears D Garcia-Minaur S Lees MM Ross A Venselaar H Vriend G Takanari H Rook MB van der Heyden MA Asselbergs FW Breur HM Swinkels ME Scurr IJ Smithson SF Knoers NV van der Smagt JJ Nijman IJ Kloosterman WP van Haelst MM van Haaften G Cuppen E 《Nature genetics》2012,44(7):793-796
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9. Using electrophysiological measurements, we show that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. Moreover, similarities between the phenotype of individuals with Cantú syndrome and side effects from the K(ATP) channel agonist minoxidil indicate that the mutations in ABCC9 result in channel opening. Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome. 相似文献
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Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 st1\:*{behavior:url(#ieooui) } /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} Construction of a 10-MWe solar thermal power plant in Daggett, California, involved clearing and leveling 53 ha of desert land. Transient offsite effects of this construction were apparent as a reduced density of annual plants within 100 m downwind of the edge of the cleared area. Schismus arabicus populations recovered within four years, but Erodium cicutarium populations did not. The effects appeared to be related more to an interaction of seed-dispersal mechanisms with the large, open space than to the obvious sand movement and deposition associated with the clearing operations. 相似文献
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Kalay E Yigit G Aslan Y Brown KE Pohl E Bicknell LS Kayserili H Li Y Tüysüz B Nürnberg G Kiess W Koegl M Baessmann I Buruk K Toraman B Kayipmaz S Kul S Ikbal M Turner DJ Taylor MS Aerts J Scott C Milstein K Dollfus H Wieczorek D Brunner HG Hurles M Jackson AP Rauch A Nürnberg P Karagüzel A Wollnik B 《Nature genetics》2011,43(1):23-26
Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation. 相似文献
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Reeves JN Watson D Osborne JP Pounds KA O'Brien PT Short AD Turner MJ Watson MG Mason KO Ehle M Schartel N 《Nature》2002,416(6880):512-515
Now that gamma-ray bursts (GRBs) have been determined to lie at cosmological distances, their isotropic burst energies are estimated to be as high as 1054 erg (ref. 2), making them the most energetic phenomena in the Universe. The nature of the progenitors responsible for the bursts remains, however, elusive. The favoured models range from the merger of two neutron stars in a binary system to the collapse of a massive star. Spectroscopic studies of the afterglow emission could reveal details of the environment of the burst, by indicating the elements present, the speed of the outflow and an estimate of the temperature. Here we report an X-ray spectrum of the afterglow of GRB011211, which shows emission lines of magnesium, silicon, sulphur, argon, calcium and possibly nickel, arising in metal-enriched material with an outflow velocity of the order of one-tenth the speed of light. These observations strongly favour models where a supernova explosion from a massive stellar progenitor precedes the burst event and is responsible for the outflowing matter. 相似文献
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Recombinational DNA double-strand breaks in mice precede synapsis 总被引:24,自引:0,他引:24
Mahadevaiah SK Turner JM Baudat F Rogakou EP de Boer P Blanco-Rodríguez J Jasin M Keeney S Bonner WM Burgoyne PS 《Nature genetics》2001,27(3):271-276
In Saccharomyces cerevisiae, meiotic recombination is initiated by Spo11-dependent double-strand breaks (DSBs), a process that precedes homologous synapsis. Here we use an antibody specific for a phosphorylated histone (gamma-H2AX, which marks the sites of DSBs) to investigate the timing, distribution and Spo11-dependence of meiotic DSBs in the mouse. We show that, as in yeast, recombination in the mouse is initiated by Spo11-dependent DSBs that form during leptotene. Loss of gamma-H2AX staining (which in irradiated somatic cells is temporally linked with DSB repair) is temporally and spatially correlated with synapsis, even when this synapsis is 'non-homologous'. 相似文献
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Kalscheuer VM Freude K Musante L Jensen LR Yntema HG Gécz J Sefiani A Hoffmann K Moser B Haas S Gurok U Haesler S Aranda B Nshedjan A Tzschach A Hartmann N Roloff TC Shoichet S Hagens O Tao J Van Bokhoven H Turner G Chelly J Moraine C Fryns JP Nuber U Hoeltzenbein M Scharff C Scherthan H Lenzner S Hamel BC Schweiger S Ropers HH 《Nature genetics》2003,35(4):313-315
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder. 相似文献