排序方式: 共有76条查询结果,搜索用时 62 毫秒
61.
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
62.
The genome of the mesopolyploid crop species Brassica rapa 总被引:21,自引:0,他引:21
Wang X Wang H Wang J Sun R Wu J Liu S Bai Y Mun JH Bancroft I Cheng F Huang S Li X Hua W Wang J Wang X Freeling M Pires JC Paterson AH Chalhoub B Wang B Hayward A Sharpe AG Park BS Weisshaar B Liu B Li B Liu B Tong C Song C Duran C Peng C Geng C Koh C Lin C Edwards D Mu D Shen D Soumpourou E Li F Fraser F Conant G Lassalle G King GJ Bonnema G Tang H Wang H Belcram H Zhou H Hirakawa H Abe H Guo H Wang H Jin H Parkin IA Batley J Kim JS Just J Li J Xu J Deng J Kim JA Li J Yu J Meng J Wang J Min J 《Nature genetics》2011,43(10):1035-1039
We report the annotation and analysis of the draft genome sequence of Brassica rapa accession Chiifu-401-42, a Chinese cabbage. We modeled 41,174 protein coding genes in the B. rapa genome, which has undergone genome triplication. We used Arabidopsis thaliana as an outgroup for investigating the consequences of genome triplication, such as structural and functional evolution. The extent of gene loss (fractionation) among triplicated genome segments varies, with one of the three copies consistently retaining a disproportionately large fraction of the genes expected to have been present in its ancestor. Variation in the number of members of gene families present in the genome may contribute to the remarkable morphological plasticity of Brassica species. The B. rapa genome sequence provides an important resource for studying the evolution of polyploid genomes and underpins the genetic improvement of Brassica oil and vegetable crops. 相似文献
63.
64.
65.
66.
Weiss J Pyrski M Jacobi E Bufe B Willnecker V Schick B Zizzari P Gossage SJ Greer CA Leinders-Zufall T Woods CG Wood JN Zufall F 《Nature》2011,472(7342):186-190
Loss of function of the gene SCN9A, encoding the voltage-gated sodium channel Na(v)1.7, causes a congenital inability to experience pain in humans. Here we show that Na(v)1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans. We examined human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. To establish the essential role of Na(v)1.7 in odour perception, we generated conditional null mice in which Na(v)1.7 was removed from all olfactory sensory neurons. In the absence of Na(v)1.7, these neurons still produce odour-evoked action potentials but fail to initiate synaptic signalling from their axon terminals at the first synapse in the olfactory system. The mutant mice no longer display vital, odour-guided behaviours such as innate odour recognition and avoidance, short-term odour learning, and maternal pup retrieval. Our study creates a mouse model of congenital general anosmia and provides new strategies to explore the genetic basis of the human sense of smell. 相似文献
67.
1 Biostratigraphicbackgroundandgeologi calsettingIneasternYunnan ,thesupra tointertidaldolomitesoftheXiaowaitoushanMember (Upper mostDengyingFormation =LatestSinian)areun conformablyoverlainbythesubsequent (earliestCambrian) phosphoritesoftheZhujiaqingFormation(MeishucunianStage) .TheoutcropsnearMeishucuninJinningCounty ,southwestofKunmingrepresentsakeysectionforthePC/CtransitionontheYangtzeplatform[1] .TheZhujiaqingFormationbelongstotheEarlytoMiddleMeishucunian (=Nemakit DaldynSt… 相似文献
68.
Hamzah J Jugold M Kiessling F Rigby P Manzur M Marti HH Rabie T Kaden S Gröne HJ Hämmerling GJ Arnold B Ganss R 《Nature》2008,453(7193):410-414
The vasculature of solid tumours is morphologically aberrant and characterized by dilated and fragile vessels, intensive vessel sprouting and loss of hierarchical architecture. Constant vessel remodelling leads to spontaneous haemorrhages and increased interstitial fluid pressure in the tumour environment. Tumour-related angiogenesis supports tumour growth and is also a major obstacle for successful immune therapy as it prevents migration of immune effector cells into established tumour parenchyma. The molecular mechanisms for these angiogenic alterations are largely unknown. Here we identify regulator of G-protein signalling 5 (Rgs5) as a master gene responsible for the abnormal tumour vascular morphology in mice. Loss of Rgs5 results in pericyte maturation, vascular normalization and consequent marked reductions in tumour hypoxia and vessel leakiness. These vascular and intratumoral changes enhance influx of immune effector cells into tumour parenchyma and markedly prolong survival of tumour-bearing mice. This is the first demonstration, to our knowledge, of reduced tumour angiogenesis and improved immune therapeutic outcome on loss of a vascular gene function and establishes a previously unrecognized role of G-protein signalling in tumour angiogenesis. 相似文献
69.
Animal-like multicellular fossils appeared towards the end of the Precambrian, followed by a rapid increase in the abundance and diversity of fossils during the Early Cambrian period, an event also known as the 'Cambrian explosion'. Changes in the environmental conditions at the Precambrian/Cambrian transition (about 542 Myr ago) have been suggested as a possible explanation for this event, but are still a matter of debate. Here we report molybdenum isotope signatures of black shales from two stratigraphically correlated sample sets with a depositional age of around 542 Myr. We find a transient molybdenum isotope signal immediately after the Precambrian/Cambrian transition. Using a box model of the oceanic molybdenum cycle, we find that intense upwelling of hydrogen sulphide-rich deep ocean water best explains the observed Early Cambrian molybdenum isotope signal. Our findings suggest that the Early Cambrian animal radiation may have been triggered by a major change in ocean circulation, terminating a long period during which the Proterozoic ocean was stratified, with sulphidic deep water. 相似文献
70.