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Hanna Bragde Ulf Jansson Mats Fredrikson Ewa Grodzinsky Jan Söderman 《Cellular and molecular life sciences : CMLS》2018,75(23):4385-4401
Establishing a celiac disease (CD) diagnosis can be difficult, such as when CD-specific antibody levels are just above cutoff or when small intestinal biopsies show low-grade injuries. To investigate the biological pathways involved in CD and select potential biomarkers to aid in CD diagnosis, RNA sequencing of duodenal biopsies from subjects with either confirmed Active CD (n?=?20) or without any signs of CD (n?=?20) was performed. Gene enrichment and pathway analysis highlighted contexts, such as immune response, microbial infection, phagocytosis, intestinal barrier function, metabolism, and transportation. Twenty-nine potential CD biomarkers were selected based on differential expression and biological context. The biomarkers were validated by real-time polymerase chain reaction of eight RNA sequencing study subjects, and further investigated using an independent study group (n?=?43) consisting of subjects not affected by CD, with a clear diagnosis of CD on either a gluten-containing or a gluten-free diet, or with low-grade intestinal injury. Selected biomarkers were able to classify subjects with clear CD/non-CD status, and a subset of the biomarkers (CXCL10, GBP5, IFI27, IFNG, and UBD) showed differential expression in biopsies from subjects with no or low-grade intestinal injury that received a CD diagnosis based on biopsies taken at a later time point. A large number of pathways are involved in CD pathogenesis, and gene expression is affected in CD mucosa already in low-grade intestinal injuries. RNA sequencing of low-grade intestinal injuries might discover pathways and biomarkers involved in early stages of CD pathogenesis. 相似文献
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Van Houdt JK Nowakowska BA Sousa SB van Schaik BD Seuntjens E Avonce N Sifrim A Abdul-Rahman OA van den Boogaard MJ Bottani A Castori M Cormier-Daire V Deardorff MA Filges I Fryer A Fryns JP Gana S Garavelli L Gillessen-Kaesbach G Hall BD Horn D Huylebroeck D Klapecki J Krajewska-Walasek M Kuechler A Lines MA Maas S Macdermot KD McKee S Magee A de Man SA Moreau Y Morice-Picard F Obersztyn E Pilch J Rosser E Shannon N Stolte-Dijkstra I Van Dijck P Vilain C Vogels A Wakeling E Wieczorek D 《Nature genetics》2012,44(4):445-9, S1
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Wortmann SB Vaz FM Gardeitchik T Vissers LE Renkema GH Schuurs-Hoeijmakers JH Kulik W Lammens M Christin C Kluijtmans LA Rodenburg RJ Nijtmans LG Grünewald A Klein C Gerhold JM Kozicz T van Hasselt PM Harakalova M Kloosterman W Barić I Pronicka E Ucar SK Naess K Singhal KK Krumina Z Gilissen C van Bokhoven H Veltman JA Smeitink JA Lefeber DJ Spelbrink JN Wevers RA Morava E de Brouwer AP 《Nature genetics》2012,44(7):797-802
Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. We localized SERAC1 at the interface between the mitochondria and the endoplasmic reticulum in the mitochondria-associated membrane fraction that is essential for phospholipid exchange. A phospholipid analysis in patient fibroblasts showed elevated concentrations of phosphatidylglycerol-34:1 (where the species nomenclature denotes the number of carbon atoms in the two acyl chains:number of double bonds in the two acyl groups) and decreased concentrations of phosphatidylglycerol-36:1 species, resulting in an altered cardiolipin subspecies composition. We also detected low concentrations of bis(monoacyl-glycerol)-phosphate, leading to the accumulation of free cholesterol, as shown by abnormal filipin staining. Complementation of patient fibroblasts with wild-type human SERAC1 by lentiviral infection led to a decrease and partial normalization of the mean ratio of phosphatidylglycerol-34:1 to phosphatidylglycerol-36:1. Our data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. 相似文献
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J. Sadowski Ewa Portalska Jadwiga Zwolińska 《Cellular and molecular life sciences : CMLS》1981,37(6):582-583
Summary In dogs transferred from room temperature to a low temperature of 1±(SD) 3.5°C, the plasma norepinephrine (NE) level increased significantly. Urine concentration decreased in the cold, in the intact and similarly in the chronically denervated kidney. After return to a warm environment urine concentration improved in both kidneys while plasma NE remained elevated. The data speak against an essential role of the renal nerves in the adaptation of renal function to ambient cold.Acknowledgments. We are greatly indebted to Dr J. Kurkus and Dr R. Gellert who performed the operations of surgical bladder division, and to Mrs W. Radziszewska for determination of plasma norepinephrine. The study was supported within the national research problem No. 10.4. 相似文献
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Ewa Szczepańska-Sadowska 《Cellular and molecular life sciences : CMLS》1973,29(2):155-156
Résumé Les expériences ont été conduites sur des chiens auxquels on a chroniquement implanté des thermodes dans la région du prosencéphale basal. On a constaté quel'échauffement de la région située en avant de la comissure antérieure a abaissé la réactivité osmotique du mécanisme de la soif. L'augmentation de la température de la même région a produit aussi une accélération de la polypnée. II faudrait alors admettre que chez le chien l'échauffement de la région thermosensitive supprime la sensibilité du mécanisme de la soif aux stimulus osmotiques.
The author thanks Mrs.W. Radziszewska for her excellent histological preparations. 相似文献
The author thanks Mrs.W. Radziszewska for her excellent histological preparations. 相似文献