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1.
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome 总被引:10,自引:0,他引:10
T Hulsebos B Wieringa R Hochstenbach D Smeets J Schepens F Oerlemans J Zimmer H H Ropers 《Cytogenetics and cell genetics》1986,43(1-2):47-56
We have constructed a somatic cell hybrid line, designated 908K1, with a single human der(19) chromosome on a Chinese hamster background by employing conventional as well as microcell-mediated cell fusion techniques. The der(19) chromosome comprises the 19p13.1----q13.2 segment, as well as the distal (Xq24----qter) portion of the X chromosome long arm, and is stably retained by HAT selection. Extensive characterization of this hybrid line and comparison with other somatic cell hybrids has enabled us to regionally assign PGK2 to the distal short arm of chromosome 19 and to narrow down the assignments of CYP1, TGFB, and ERCC1 on 19q. Moreover, a cosmid library has been constructed from this microcell hybrid. By screening this library, as well as a chromosome 19-enriched library obtained elsewhere, 14 single-copy probes have been isolated that map on the 19p13.1----q13.2 segment, and 5 probes were assigned to the distal Xq. It is anticipated that these probes will be useful for the diagnosis of myotonic dystrophy and fra(X) mental retardation. 相似文献
2.
Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q 总被引:18,自引:0,他引:18
D Schonk M Coerwinkel-Driessen I van Dalen F Oerlemans B Smeets J Schepens T Hulsebos D Cockburn Y Boyd M Davis 《Genomics》1989,4(3):384-396
The localization to 19q of the gene causing myotonic dystrophy (DM) has been defined more precisely by refinement of the physical location of several linked markers. A somatic cell hybrid mapping panel from cells with t(1;19), t(12;19), and t(X;19) translocation products was constructed to define five different intervals across 19q. In addition, we have derived a series of cell hybrids by irradiation of a der(19)-only hybrid to further subdivide the cen-q13.1 region. Using an array of 36 cloned genes, anonymous DNAs, and enzyme markers, we have tested the location of the panel breakpoints and refined the regional assignment of several of these markers. All markers tightly linked to DM are localized mainly within 19q13.2, thus suggesting that the DM gene is also close to this region. 相似文献
3.
Th. Verheggen F. Mikkers F. Everaerts F. Oerlemans C. de Bruyn 《Journal of chromatography. B, Analytical technologies in the biomedical and life sciences》1980,182(3):317-324
An operational system is described for the isotachophoretic determination of uric acid in serum, making use of column coupling. The method has been compared with a standard enzymatic procedure. With the present technique small amounts of serum (ca. 3 μl) can be applied without any pretreatment. Urate recovery was 99.0–100.5%. Under the non-physiological measuring conditions used, 12–28% of control serum uric acid was bound to macromolecules of molecular weight exceeding 25,000. The day-to-day variations of the isotachophoretic procedure were smaller than those of the enzymatic method, whereas standard deviations were comparable. The isotachophoretic procedure is less influenced by certain metabolites. 相似文献
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5.
Streijger F Jost CR Oerlemans F Ellenbroek BA Cools AR Wieringa B Van der Zee CE 《Molecular and cellular biochemistry》2004,256(1-2):305-318
Brain-type creatine kinases B-CK (cytosolic) and UbCKmit (mitochondrial) are considered important for the maintenance and distribution of cellular energy in the central nervous system. Previously, we have demonstrated an abnormal behavioral phenotype in mice lacking the B-CK creatine kinase isoform, regarding exploration, habituation, seizure susceptibility and spatial learning. The phenotype in these mice was associated with histological adaptations in the hippocampal mossy fiber field size. Here, mice lacking the ubiquitous mitochondrial creatine kinase isoform (UbCKmit-/- mice) showed, when subjected to a similar battery of behavioral tasks, diminished open field habituation and slower spatial learning acquisition in the Morris water maze task, but normal sensory or motor functions. A reduced acoustic startle response, higher threshold, and lack of prepulse inhibition were observed in UbCKmit-/- mice, suggesting that the unconditioned reflexive responsiveness is not optimal. Our findings suggest a role for mitochondrial CK-mediated high-energy phosphoryl transfer in synaptic signalling in the acoustic signal response network and hippocampal-dependent learning circuitry of brain. Finally, we demonstrate that UbCKmit has a widespread occurrence in the cell soma of neuronal nuclei along the rostro-caudal axis of the brain, i.e. cortex, midbrain, hindbrain, cerebellum and brainstem, similar to the occurrence of B-CK. This may explain the similarity of phenotypes in mice lacking B-CK or UbCKmit. We predict that the remaining functional intactness of the cytosolic B-CK reaction and perhaps the compensatory role of other phosphoryl transfer systems are sufficient to sustain the energy requirements for basic sensory, motor and physiological activities in UbCKmit-/- mice. 相似文献
6.
Serena Moretti Wenke Smets Eline Oerlemans Ronny Blust Sarah Lebeer 《Aerobiologia》2018,34(4):487-496
Endotoxins are components of Gram-negative bacteria with inherently high pro-inflammatory potential. In an urban environment, airborne endotoxins may associate with pollutants such as particulate matter, increasing the severity of the immune response by acting as a natural adjuvant to augment inflammatory respiratory disease development. Here, we present a closer look at outdoor urban endotoxins by applying a microbial-targeted collection strategy. Results from 87 samples distributed throughout the city of Antwerp ranged from 0.45 to 93.71 EU/m3, with a geometric mean of 4.49 EU/m3 and 95% confidence interval of 3.53–5.71 EU/m3. Sample collection was also coupled with the use of a Coulter counter, for which the particle count (2.5–10 μm/m3) showed a significant correlation with endotoxin concentration (R2?=?0.24; p?<?0.0001; n?=?64). In addition, the analysis of the cultivable bacterial colony-forming units on Reasoner’s 2A agar (expressed CFU/m3) showed to be a good indicator for airborne endotoxins (R2?=?0.57; p?<?0.0001; n?=?58). Moreover, identification of dominant bacterial colonies on these culture plates gave some indications on potential sources of these urban outdoor bacteria and endotoxins. 相似文献
7.
B. De Kruijff W.J. Gerritsen A. Oerlemans R.A. Demel L.L.M. van Deenen 《生物化学与生物物理学报:生物膜》1974,339(1):30-43
8.
N. de Jonge K. Damman F. Z. Ramjankhan N. P. van der Kaaij S. A. J. van den Broek M. E. Erasmus M. Kuijpers O. Manintveld J. A. Bekkers A. C. Constantinescu J. J. Brugts M. I. F. Oerlemans L. W. van Laake K. Caliskan 《Netherlands heart journal》2021,29(12):611
The updated listing criteria for heart transplantation are presented on behalf of the three heart transplant centres in the Netherlands. Given the shortage of donor hearts, selection of those patients who may expect to have the greatest benefit from a scarce societal resource in terms of life expectancy and quality of life is inevitable. The indication for heart transplantation includes end-stage heart disease not remediable by more conservative measures, accompanied by severe physical limitation while on optimal medical therapy, including ICD/CRT‑D. Assessment of this condition requires cardiopulmonary stress testing, prognostic stratification and invasive haemodynamic measurements. Timely referral to a tertiary centre is essential for an optimal outcome. Chronic mechanical circulatory support is being used more and more as an alternative to heart transplantation and to bridge the progressively longer waiting time for heart transplantation and, thus, has become an important treatment option for patients with advanced heart failure.Supplementary InformationThe online version of this article (10.1007/s12471-021-01627-x) contains supplementary material, which is available to authorized users. 相似文献
9.
Chang EJ Ha J Oerlemans F Lee YJ Lee SW Ryu J Kim HJ Lee Y Kim HM Choi JY Kim JY Shin CS Pak YK Tanaka S Wieringa B Lee ZH Kim HH 《Nature medicine》2008,14(9):966-972
Osteoclasts differentiate from precursor cells of the monocyte-macrophage lineage and subsequently become activated to be competent for bone resorption through programs primarily governed by receptor activator of nuclear factor-kappaB ligand in cooperation with macrophage colony-stimulating factor. Proteins prominently expressed at late phases of osteoclastogenesis and with a supportive role in osteoclast function are potential therapeutic targets for bone-remodeling disorders. In this study, we used a proteomics approach to show that abundance of the brain-type cytoplasmic creatine kinase (Ckb) is greatly increased during osteoclastogenesis. Decreasing Ckb abundance by RNA interference or blocking its enzymatic activity with a pharmacological inhibitor, cyclocreatine, suppressed the bone-resorbing activity of osteoclasts grown in vitro via combined effects on actin ring formation, RhoA GTPase activity and vacuolar ATPase function. Activities of osteoclasts derived from Ckb-/- mice were similarly affected. In vivo studies showed that Ckb-/- mice were better protected against bone loss induced by ovariectomy, lipopolysaccharide challenge or interleukin-1 treatment than wild-type controls. Furthermore, administration of cyclocreatine or adenoviruses harboring Ckb small hairpin RNA attenuated bone loss in rat and mouse models. Our findings establish an important role for Ckb in the bone-resorbing function of osteoclasts and underscore its potential as a new molecular target for antiresorptive drug development. 相似文献
10.
Gerda Venter Frank T. J. J. Oerlemans Marieke Willemse Mietske Wijers Jack A. M. Fransen Bé Wieringa 《PloS one》2014,9(5)
Functional morphodynamic behavior of differentiated macrophages is strongly controlled by actin cytoskeleton rearrangements, a process in which also metabolic cofactors ATP and NAD(H) (i.e. NAD+ and NADH) and NADP(H) (i.e. NADP+ and NADPH) play an essential role. Whereas the link to intracellular ATP availability has been studied extensively, much less is known about the relationship between actin cytoskeleton dynamics and intracellular redox state and NAD+-supply. Here, we focus on the role of nicotinamide phosphoribosyltransferase (NAMPT), found in extracellular form as a cytokine and growth factor, and in intracellular form as one of the key enzymes for the production of NAD+ in macrophages. Inhibition of NAD+ salvage synthesis by the NAMPT-specific drug FK866 caused a decrease in cytosolic NAD+ levels in RAW 264.7 and Maf-DKO macrophages and led to significant downregulation of the glycolytic flux without directly affecting cell viability, proliferation, ATP production capacity or mitochondrial respiratory activity. Concomitant with these differential metabolic changes, the capacity for phagocytic ingestion of particles and also substrate adhesion of macrophages were altered. Depletion of cytoplasmic NAD+ induced cell-morphological changes and impaired early adhesion in phagocytosis of zymosan particles as well as spreading performance. Restoration of NAD+ levels by NAD+, NMN, or NADP+ supplementation reversed the inhibitory effects of FK866. We conclude that direct coupling to local, actin-based, cytoskeletal dynamics is an important aspect of NAD+’s cytosolic role in the regulation of morphofunctional characteristics of macrophages. 相似文献