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Franziska Pilz Katharina Vill Rainer Rawer Michaela Bonfert Moritz Tacke Nicole Heussinger Wolfgang Müller-Felber Astrid Blaschek 《Journal of musculoskeletal & neuronal interactions》2022,22(4):431
Objective:To establish pediatric age- and sex-specific references for measuring postural control with a mechanography plate in a single centre, prospective, normative data study.Methods:739 children and adolescents (396 male/343 female) aged 4 to 17 years were studied. Each participant completed the following test sequence three times: Romberg, semi-tandem, tandem, each with eyes open and closed, and a one-leg stand with eyes open, and a single two-legged jump. Normal ranges were determined based on percentile calculations using the LMS method. Results from the two-legged jump were compared to a reference population the single two-legged jump (s2LJ) assessment in 2013.Results:38 different equilibrium parameters calculated were analysed. Of all parameters Path Length, vCoFmean, Equilibrium Score and Sway Angle showed a low variation within the same age group but high dependency on age and were thus chosen for automated balance assessment.Conclusion:Standard values of postural control in healthy children derived from automated balance testing using a mechanography plate were successfully acquired and a subset of parameters for automated balance assessment identified. 相似文献
43.
Sahar Aminzai Tingfei Hu Renate B. Pilz Darren E. Casteel 《The Journal of biological chemistry》2022,298(8)
Type I cGMP-dependent protein kinases (PKGIs) are important components of various signaling pathways and are canonically activated by nitric oxide– and natriuretic peptide–induced cGMP generation. However, some reports have shown that PKGIα can also be activated in vitro by oxidizing agents. Using in vitro kinase assays, here, we found that purified PKGIα stored in PBS with Flag peptide became oxidized and activated even in the absence of oxidizing agent; furthermore, once established, this activation could not be reversed by reduction with DTT. We demonstrate that activation was enhanced by addition of Cu2+ before storage, indicating it was driven by oxidation and mediated by trace metals present during storage. Previous reports suggested that PKGIα Cys43, Cys118, and Cys196 play key roles in oxidation-induced kinase activation; we show that activation was reduced by C118A or C196V mutations, although C43S PKGIα activation was not reduced. In contrast, under the same conditions, purified PKGIβ activity only slightly increased with storage. Using PKGIα/PKGIβ chimeras, we found that residues throughout the PKGIα-specific autoinhibitory loop were responsible for this activation. To explore whether oxidants activate PKGIα in H9c2 and C2C12 cells, we monitored vasodilator-stimulated phosphoprotein phosphorylation downstream of PKGIα. While we observed PKGIα Cys43 crosslinking in response to H2O2 (indicating an oxidizing environment in the cells), we were unable to detect increased vasodilator-stimulated phosphoprotein phosphorylation under these conditions. Taken together, we conclude that while PKGIα can be readily activated by oxidation in vitro, there is currently no direct evidence of oxidation-induced PKGIα activation in vivo. 相似文献
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Mary C. O'Driscoll Jill E. Urquhart Daniela T. Pilz Meriel McEntagart Maha Zaki Roger L. Ladda Stefano D'Arrigo William B. Dobyns Yanick J. Crow 《American journal of human genetics》2010,87(3):354-364
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare autosomal-recessive neurological disorder showing highly characteristic clinical and neuroradiological features. Affected individuals demonstrate early-onset seizures, severe microcephaly, and developmental arrest with bilateral, symmetrical polymicrogyria (PMG) and a band of gray matter calcification on brain imaging; as such, the disorder can be considered as a “pseudo-TORCH” syndrome. By using autozygosity mapping and copy number analysis we identified intragenic deletions and mutations in OCLN in nine patients from six families with BLC-PMG. The OCLN gene encodes occludin, an integral component of tight junctions. Neuropathological analysis of an affected individual showed similarity to the mouse model of occludin deficiency with calcification predominantly associated with blood vessels. Both intracranial calcification and PMG are heterogeneous in etiology. Neuropathological and clinical studies of PMG have suggested that in utero ischemic or vascular insults may contribute to this common cortical abnormality. Tight junctions are functional in cerebral blood vessels early in fetal development and continue to play a vital role in maintenance of the blood-brain barrier during postnatal life. We provide evidence that the tight junction protein occludin (encoded by the OCLN gene) is involved in the pathogenesis of malformations of cortical development. 相似文献
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Darren E. Casteel Eric V. Smith-Nguyen Banumathi Sankaran Sung H. Roh Renate B. Pilz Choel Kim 《The Journal of biological chemistry》2010,285(43):32684-32688
Cyclic GMP-dependent protein kinase (PKG) is a key mediator of the nitric oxide/cGMP signaling pathway and plays a central role in regulating cardiovascular and neuronal functions. The N-terminal ∼50 amino acids of the kinase are required for homodimerization and association with isoform-specific PKG-anchoring proteins (GKAPs), which target the kinase to specific substrates. To understand the molecular details of PKG dimerization and gain insight into its association with GKAPs, we solved a crystal structure of the PKG Iβ dimerization/docking domain. Our structure provides molecular details of this unique leucine/isoleucine zipper, revealing specific hydrophobic and ionic interactions that mediate dimerization and demonstrating the topology of the GKAP interaction surface. 相似文献
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Zhuang S Nguyen GT Chen Y Gudi T Eigenthaler M Jarchau T Walter U Boss GR Pilz RB 《The Journal of biological chemistry》2004,279(11):10397-10407
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Gerald Schmid-Bindert Yongsheng Wang Hongbin Jiang Hui Sun Thomas Henzler Hao Wang Lothar R. Pilz Shengxiang Ren Caicun Zhou 《PloS one》2013,8(10)