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71.
Budde BS Binner P Waldmüller S Höhne W Blankenfeldt W Hassfeld S Brömsen J Dermintzoglou A Wieczorek M May E Kirst E Selignow C Rackebrandt K Müller M Goody RS Vosberg HP Nürnberg P Scheffold T 《PloS one》2007,2(12):e1362
Noncompaction of the ventricular myocardium (NVM) is the morphological hallmark of a rare familial or sporadic unclassified heart disease of heterogeneous origin. NVM results presumably from a congenital developmental error and has been traced back to single point mutations in various genes. The objective of this study was to determine the underlying genetic defect in a large German family suffering from NVM. Twenty four family members were clinically assessed using advanced imaging techniques. For molecular characterization, a genome-wide linkage analysis was undertaken and the disease locus was mapped to chromosome 14ptel-14q12. Subsequently, two genes of the disease interval, MYH6 and MYH7 (encoding the alpha- and beta-myosin heavy chain, respectively) were sequenced, leading to the identification of a previously unknown de novo missense mutation, c.842G>C, in the gene MYH7. The mutation affects a highly conserved amino acid in the myosin subfragment-1 (R281T). In silico simulations suggest that the mutation R281T prevents the formation of a salt bridge between residues R281 and D325, thereby destabilizing the myosin head. The mutation was exclusively present in morphologically affected family members. A few members of the family displayed NVM in combination with other heart defects, such as dislocation of the tricuspid valve (Ebstein's anomaly, EA) and atrial septal defect (ASD). A high degree of clinical variability was observed, ranging from the absence of symptoms in childhood to cardiac death in the third decade of life. The data presented in this report provide first evidence that a mutation in a sarcomeric protein can cause noncompaction of the ventricular myocardium. 相似文献
72.
Falk Eigemann Eyal Rahav Hans-Peter Grossart Dikla Aharonovich Daniel Sher Angela Vogts Maren Voss 《Environmental microbiology》2022,24(5):2467-2483
Marine bacteria rely on phytoplankton exudates as carbon sources (DOCp). Yet, it is unclear to what extent phytoplankton exudates also provide nutrients such as phytoplankton-derived N and P (DONp, DOPp). We address these questions by mesocosm exudate addition experiments with spent media from the ubiquitous pico-cyanobacterium Prochlorococcus to bacterial communities in contrasting ecosystems in the Eastern Mediterranean – a coastal and an open-ocean, oligotrophic station with and without on-top additions of inorganic nutrients. Inorganic nutrient addition did not lower the incorporation of exudate DONp, nor did it reduce alkaline phosphatase activity, suggesting that bacterial communities are able to exclusively cover their nitrogen and phosphorus demands with organic forms provided by phytoplankton exudates. Approximately half of the cells in each ecosystem took up detectable amounts of Prochlorococcus-derived C and N, yet based on 16S rRNA sequencing different bacterial genera were responsible for the observed exudate utilization patterns. In the coastal community, several phylotypes of Aureimarina, Psychrosphaera and Glaciecola responded positively to the addition of phytoplankton exudates, whereas phylotypes of Pseudoalteromonas increased and dominated the open-ocean communities. Together, our results strongly indicate that phytoplankton exudates provide coastal and open-ocean bacterial communities with organic carbon, nitrogen and phosphorus, and that phytoplankton exudate serve a full-fledged meal for the accompanying bacterial community in the nutrient-poor eastern Mediterranean. 相似文献
73.
Steroids and oocyte maturation--a new look at an old story 总被引:3,自引:0,他引:3
Hammes SR 《Molecular endocrinology (Baltimore, Md.)》2004,18(4):769-775
74.
Marlies?Klee Barbara?ZachEmail author Hans-Peter?Stika 《Vegetation History and Archaeobotany》2004,13(2):131-142
Late Holocene climatic changes caused a large scale regression of the Lake Chad shoreline followed by an expansion of settlements into previously unexplored territories. Numerous Final Stone Age sites of the Gajiganna Culture (1,800 to 800 b.c.) in the Lake Chad Basin (northeast Nigeria) yielded plant impressions in potsherds. The ceramics of Phase I (1,800–1,400 b.c.) were mineral tempered, and plant impressions, mainly of Paniceae, were caused only by incidental inclusion. In contrast, a considerable number of the sherds from Phase II (1,500–800 b.c.) were intentionally tempered with chaff derived from domesticated pearl millet (Pennisetum glaucum), wild Paniceae and wild rice species (Oryza cf. barthii
and O. cf. longistaminata). This plant spectrum suggests the exploitation of the wet wild areas, and also the cultivation of pearl millet on sandy soils. The evidence suggests that agricultural practices were established late and were introduced from elsewhere. During the time of seasonally occupied sites in Phase I, the subsistence strategy was based on herding, fishing, and gathering, while in Phase II there are signs of permanent settlements and agriculture. The evidence from the plant impressions indicates that in the Final Stone Age Gajiganna Culture around 1,000–800 b.c., pearl millet became well established while the gathering of wild millets and rice was still practised.*Klee et al. (2000), Zach and Klee (2003) 相似文献
75.
AtPTR1, a plasma membrane peptide transporter expressed during seed germination and in vascular tissue of Arabidopsis 总被引:1,自引:0,他引:1
Dietrich D Hammes U Thor K Suter-Grotemeyer M Flückiger R Slusarenko AJ Ward JM Rentsch D 《The Plant journal : for cell and molecular biology》2004,40(4):488-499
For the efficient translocation of organic nitrogen, small peptides of two to three amino acids are posited as an important alternative to amino acids. A new transporter mediating the uptake of di- and tripeptides was isolated from Arabidopsis thaliana by heterologous complementation of a peptide transport-deficient Saccharomyces cerevisiae mutant. AtPTR1 mediated growth of S. cerevisiae cells on different di- and tripeptides and caused sensitivity to the phytotoxin phaseolotoxin. The spectrum of substrates recognized by AtPTR1 was determined in Xenopus laevis oocytes injected with AtPTR1 cRNA under voltage clamp conditions. AtPTR1 not only recognized a broad spectrum of di- and tripeptides, but also substrates lacking a peptide bond. However, amino acids, omega-amino fatty acids or peptides with more than three amino acid residues did not interact with AtPTR1. At pH 5.5 AtPTR1 had an apparent lower affinity (K(0.5) = 416 microm) for Ala-Asp compared with Ala-Ala (K(0.5) = 54 microm) and Ala-Lys (K(0.5) = 112 microm). Transient expression of AtPTR1/GFP fusion proteins in tobacco protoplasts showed that AtPTR1 is localized at the plasma membrane. In addition, transgenic plants expressing the beta-glucuronidase (uidA) gene under control of the AtPTR1 promoter demonstrated expression in the vascular tissue throughout the plant, indicative of a role in long-distance transport of di- and tripeptides. 相似文献
76.
Colditz F Nyamsuren O Niehaus K Eubel H Braun HP Krajinski F 《Plant molecular biology》2004,55(1):109-120
The legume root rot disease caused by the oomycete pathogen Aphanomyces euteiches is one major yield reducing factor in legume crop production. A comparative proteomic approach was carried out in order to identify proteins of the model legume Medicago truncatula which are regulated after an infection with A. euteiches. Several proteins were identified by two dimensional gel electrophoresis to be differentially expressed after pathogen challenge. Densitometric evaluation of expression values showed different regulation during the time-course analysed. Proteins regulated during the infection were identified by matrix assisted laser desorption/ionization-time of flight-mass spectrometry (MALDI-TOF-MS). Among the differentially expressed proteins, two encoded putative cell wall proteins and two were designated as small heat shock proteins. Furthermore, an isoform of the chalcone-O-methyltransferase was found to be increased in infected roots. The majority of induced proteins belonged to the family of class 10 of pathogenesis related proteins (PR10). Previously, various PR10-like proteins have been shown to be regulated by general stress or abscisic acid (ABA). Therefore, these proteins were further investigated concerning their regulation in response to drought stress and exogenous ABA-application. Complex regulation patterns were identified: three of the A. euteiches-induced PR10-like proteins were also induced by exogenous ABA- but none of them is induced after drought stress. In contrast, three of these proteins are down-regulated by drought stress. Hence, the strong expression of different PR10-family members and their regulation profiles indicates that this set of proteins plays a major role during root adaptations to various stress conditions. 相似文献
77.
Perales M Parisi G Fornasari MS Colaneri A Villarreal F González-Schain N Echave J Gómez-Casati D Braun HP Araya A Zabaleta E 《Plant molecular biology》2004,56(6):947-957
We report the identification by two hybrid screens of two novel similar proteins, called Arabidopsis thaliana gamma carbonic anhydrase like1 and 2 (AtCAL1 and AtCAL2), that interact specifically with putative Arabidopsis thaliana gamma Carbonic Anhydrase (AtCA) proteins in plant mitochondria. The interaction region that was located in the N-terminal 150 amino acids of mature AtCA and AtCA like proteins represents a new interaction domain. In vitro experiments indicate that these proteins are imported into mitochondria and are associated with mitochondrial complex I as AtCAs. All plant species analyzed contain both AtCA and AtCAL sequences indicating that these genes were conserved throughout plant evolution. Structural modeling of AtCAL sequences show a deviation of functionally important active site residues with respect to CAs but could form active interfaces in the interaction with AtCAs. We postulate a CA complex tightly associated to plant mitochondrial complex. 相似文献
78.
Dominik?Seelow Raffaello?Galli Siegrun?Mebus Hans-Peter?Sperling Hans?Lehrach Silke?SperlingEmail author 《BMC bioinformatics》2004,5(1):168
Background
Motivated by a biomedical database set up by our group, we aimed to develop a generic database front-end with embedded knowledge discovery and analysis features. A major focus was the human-oriented representation of the data and the enabling of a closed circle of data query, exploration, visualization and analysis. 相似文献79.
80.
Forward transport of proteins from the ER to the plasma membrane requires escape from the ER's retention machinery. Recent studies suggest that 14-3-3 proteins may mediate ER export of potassium channels destined for the plasma membrane by interfering with dibasic-motif-mediated retention. 相似文献