排序方式: 共有100条查询结果,搜索用时 312 毫秒
71.
Patel H Cross H Proukakis C Hershberger R Bork P Ciccarelli FD Patton MA McKusick VA Crosby AH 《Nature genetics》2002,30(4):347-348
Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP. 相似文献
72.
To determine the role of fibroblast growth factor (FGF) signalling from the apical ectodermal ridge (AER), we inactivated Fgf4 and Fgf8 in AER cells or their precursors at different stages of mouse limb development. We show that FGF4 and FGF8 regulate cell number in the nascent limb bud and are required for survival of cells located far from the AER. On the basis of the skeletal phenotypes observed, we conclude that these functions are essential to ensure that sufficient progenitor cells are available to form the normal complement of skeletal elements, and perhaps other limb tissues. In the complete absence of both FGF4 and FGF8 activities, limb development fails. We present a model to explain how the mutant phenotypes arise from FGF-mediated effects on limb bud size and cell survival. 相似文献
73.
Riassunto Dal sangue di un soggetto affetto daTalassemiaMinor si sono ottenuti cristalli tipici di Hb F.L'analisi della composizione in aminoacidi di tali cristalli porta a concludere che la frazione di Hb alcaliresistente presente in questa malattia e l'Hb F sono identiche. 相似文献
74.
The birth of stars involves not only accretion but also, counter-intuitively, the expulsion of matter in the form of highly supersonic outflows. Although this phenomenon has been seen in young stars, a fundamental question is whether it also occurs among newborn brown dwarfs: these are the so-called 'failed stars', with masses between stars and planets, that never manage to reach temperatures high enough for normal hydrogen fusion to occur. Recently, evidence for accretion in young brown dwarfs has mounted, and their spectra show lines that are suggestive of outflows. Here we report spectro-astrometric data that spatially resolve an outflow from a brown dwarf. The outflow's characteristics appear similar to, but on a smaller scale than, outflows from normal young stars. This result suggests that the outflow mechanism is universal, and perhaps relevant even to the formation of planets. 相似文献
75.
Tania Fiaschi Francesca Magherini Tania Gamberi Pietro Amedeo Modesti Alessandra Modesti 《Cellular and molecular life sciences : CMLS》2014,71(10):1917-1925
The great interest that scientists have for adiponectin is primarily due to its central metabolic role. Indeed, the major function of this adipokine is the control of glucose homeostasis that it exerts regulating liver and muscle metabolism. Adiponectin has insulin-sensitizing action and leads to down-regulation of hepatic gluconeogenesis and an increase of fatty acid oxidation. In addition, adiponectin is reported to play an important role in the inhibition of inflammation. The hormone is secreted in full-length form, which can either assemble into complexes or be converted into globular form by proteolytic cleavage. Over the past few years, emerging publications reveal a more varied and pleiotropic action of this hormone. Many studies emphasize a key role of adiponectin during tissue regeneration and show that adiponectin deficiency greatly inhibits the mechanisms underlying tissue renewal. This review deals with the role of adiponectin in tissue regeneration, mainly referring to skeletal muscle regeneration, a process in which adiponectin is deeply involved. In this tissue, globular adiponectin increases proliferation, migration and myogenic properties of both resident stem cells (namely satellite cells) and non-resident muscle precursors (namely mesoangioblasts). Furthermore, skeletal muscle could be a site for the local production of the globular form that occurs in an inflamed environment. Overall, these recent findings contribute to highlight an intriguing function of adiponectin in addition to its well-recognized metabolic action. 相似文献
76.
Francesca Turroni Marco Ventura Ludovica F. Buttó Sabrina Duranti Paul W. O’Toole Mary O’Connell Motherway Douwe van Sinderen 《Cellular and molecular life sciences : CMLS》2014,71(2):183-203
The human gut represents a highly complex ecosystem, which is densely colonized by a myriad of microorganisms that influence the physiology, immune function and health status of the host. Among the many members of the human gut microbiota, there are microorganisms that have co-evolved with their host and that are believed to exert health-promoting or probiotic effects. Probiotic bacteria isolated from the gut and other environments are commercially exploited, and although there is a growing list of health benefits provided by the consumption of such probiotics, their precise mechanisms of action have essentially remained elusive. Genomics approaches have provided exciting new opportunities for the identification of probiotic effector molecules that elicit specific responses to influence the physiology and immune function of their human host. In this review, we describe the current understanding of the intriguing relationships that exist between the human gut and key members of the gut microbiota such as bifidobacteria and lactobacilli, discussed here as prototypical groups of probiotic microorganisms. 相似文献
77.
78.
Barbieri CE Baca SC Lawrence MS Demichelis F Blattner M Theurillat JP White TA Stojanov P Van Allen E Stransky N Nickerson E Chae SS Boysen G Auclair D Onofrio RC Park K Kitabayashi N MacDonald TY Sheikh K Vuong T Guiducci C Cibulskis K Sivachenko A Carter SL Saksena G Voet D Hussain WM Ramos AH Winckler W Redman MC Ardlie K Tewari AK Mosquera JM Rupp N Wild PJ Moch H Morrissey C Nelson PS Kantoff PW Gabriel SB Golub TR Meyerson M Lander ES Getz G Rubin MA Garraway LA 《Nature genetics》2012,44(6):685-689
79.
Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium Strange A Capon F Spencer CC Knight J Weale ME Allen MH Barton A Band G Bellenguez C Bergboer JG Blackwell JM Bramon E Bumpstead SJ Casas JP Cork MJ Corvin A Deloukas P Dilthey A Duncanson A Edkins S Estivill X Fitzgerald O Freeman C Giardina E Gray E Hofer A Hüffmeier U Hunt SE Irvine AD Jankowski J Kirby B Langford C Lascorz J Leman J Leslie S Mallbris L Markus HS Mathew CG McLean WH McManus R 《Nature genetics》2010,42(11):985-990
To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified associations at eight previously unreported genomic loci. Seven loci harbored genes with recognized immune functions (IL28RA, REL, IFIH1, ERAP1, TRAF3IP2, NFKBIA and TYK2). These associations were replicated in 9,079 European samples (six loci with a combined P < 5 × 10?? and two loci with a combined P < 5 × 10??). We also report compelling evidence for an interaction between the HLA-C and ERAP1 loci (combined P = 6.95 × 10??). ERAP1 plays an important role in MHC class I peptide processing. ERAP1 variants only influenced psoriasis susceptibility in individuals carrying the HLA-C risk allele. Our findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis. 相似文献
80.
Giovanni Di Maira Francesca Brustolon Lorenzo A. Pinna Maria Ruzzene 《Cellular and molecular life sciences : CMLS》2009,66(20):3363-3373
Akt (PKB) is a critical kinase in cell-survival pathways. Its activity depends on the phosphorylation of Thr308 and Ser473,
by PDK1 and mTORC2, respectively. We found that Akt can be further stimulated through phosphorylation of Ser129 by another
kinase, CK2. Here we show that phosphorylation of Akt at Ser129 also facilitates its association with Hsp90 chaperone, thus
preventing Thr308 dephosphorylation. This is supported by the following observations: (1) phospho-Thr308 decreases when Ser129
is mutated to alanine, (2) this decrease is abolished by cell treatment with okadaic acid (to inactivate PP2A) or geldanamycin
(to inactivate Hsp90), (3) phosphorylation of Ser129 neither enhances the activity of PDK1 nor hampers the in vitro activity
of PP2A on Thr308, but increases the Hsp90 association to Akt. These data support the view that the antiapoptotic potential
of CK2 is at least in part mediated by its ability to maintain Akt in its active form. 相似文献