Search

Your search keyword '"Christoffersen C"' showing total 279 results
Start Over Author "Christoffersen C"
279 results on '"Christoffersen C"'

1. Discovery of potential plasma protein biomarkers for ventricular fibrillation due to first ST-elevation myocardial infarction via proteomics

Author

Stampe, N K, primary, Ottenheijm, M E, additional, Drici, L, additional, Wewer Albrechtsen, N J, additional, Nielsen, A B, additional, Christoffersen, C, additional, Warming, P E, additional, Engstroem, T, additional, Winkel, B G, additional, Jabbari, R, additional, Tfelt-Hansen, J, additional, and Glinge, C, additional

Published
2023
Full Text
View/download PDF

2. Diastolic dysfunction and its association to renal outcomes in patients with chronic kidney disease

Author

Zeuthen, M, primary, Landler, N E, additional, Olsen, F R, additional, Christensen, J, additional, Skaarup, K G, additional, Lassen, M C H, additional, Christoffersen, C, additional, Ballegaard, E L F, additional, Soerensen, I M H, additional, Bjergfelt, S S, additional, Bro, S, additional, Feldt-Rasmussen, B, additional, Hansen, D, additional, and Biering-Soerensen, T, additional

Published
2023
Full Text
View/download PDF

3. Prevalence and implications of heart failure stages A-D in patients with chronic kidney disease

Author

Lauridsen, A, primary, Landler, N E, additional, Olsen, F J, additional, Johansen, N D, additional, Lassen, M C H, additional, Christensen, J, additional, Christoffersen, C, additional, Ballegaard, E L F, additional, Soerensen, I M H, additional, Bjergfelt, S S, additional, Bro, S, additional, Feldt-Rasmussen, B, additional, Hansen, D, additional, and Biering-Soerensen, T, additional

Published
2023
Full Text
View/download PDF

6. ASsociation of the apolipoprotein M and sphingosine-1-phosphate complex with brown adipose tissue after cold exposure in humans

Author

Borup, A., primary, Donkin, I., additional, Boon, M.R., additional, Frydland, M., additional, Martinez-Tellez, B., additional, Loft, A., additional, Keller, S.H., additional, Kjaer, A., additional, Kjaergaard, J., additional, Hassager, C., additional, Barres, R., additional, Rensen, P.C.N., additional, and Christoffersen, C., additional

Published
2021
Full Text
View/download PDF

8. Sphingosine 1-phosphate (S1P) receptor type 1 signaling induces an anti-atherogenic phenotype in macrophages and attenuates atherosclerosis in LDL-receptor-deficient mice

Author

Potì, F., primary, Scalera, E., additional, Feuerborn, R., additional, Fischer, J., additional, Arndt, L., additional, Varga, G., additional, Pardali, E., additional, Seidl, M., additional, Liebisch, G., additional, Rosenbauer, F., additional, Renne, T., additional, Christoffersen, C., additional, Simoni, M., additional, Burkhardt, R., additional, and Nofer, J.-R., additional

Published
2020
Full Text
View/download PDF

14. P660Molecular insight in apoM-S1P-induced cardioprotection against ischemia/reperfusion injury

Author

Morel, S., Christoffersen, C., Rochemont, V., Montecucco, F., Frias, M., Pelli, G., Mach, F., James, RW, Nielsen, LB, Kwak, BR, Morel, S., Christoffersen, C., Rochemont, V., Montecucco, F., Frias, M., Pelli, G., Mach, F., James, RW, Nielsen, LB, and Kwak, BR

Abstract

Purpose: Apolipoprotein M (apoM) is a plasma lipoprotein that mainly associates with high-density lipoproteins (HDL) and that serves as a carrier of the bioactive lipid Sphingosine-1-Phosphate (S1P). Recent studies indicate that S1P binding to G-protein-coupled receptors, known as S1P-receptors, in the heart activates signalling pathways promoting cardiomyocyte survival, but downstream targets are largely unknown. Here, we investigate the putative role of the apoM-S1P axis in relation to cardioprotection against ischemia/reperfusion (IR) injury. Methods and Results: ApoM transgenic (Apom-Tg) mice, in which plasma S1P is increased by >250%, and wild-type (WT) mice were subjected to 30 min of left coronary artery ligation and 24 hrs reperfusion in vivo. We found a reduction of infarct size in Apom-Tg mice (15±1%) in comparison with WT mice (29±4%, N=8-9, p<0.01). In agreement, neutrophil infiltration into the infarcted area was lower in Apom-Tg mice (14.8±0.2% vs. 25.9±5.1 in WT, N=3, p<0.05). Interestingly, 5 min of S1P treatment at the onset of reperfusion reduced infarct size in response to 30 min of no-flow global ischemia (control: 23±3%, S1P-treated: 11±2%, N=5, p<0.05) in ex vivo Langendorff perfused hearts, suggesting that S1P exerts a direct protective effect on cardiomyocytes. Moreover, the sensitivity to ex vivo IR of Apom-Tg mice was not different from WT mice, further supporting that the cardioprotective effect observed in vivo is due to increased plasmatic S1P in these mice. To obtain further insight into the mechanism underlying S1P-induced cardioprotection, neonatal rat ventricular cardiomyocytes were treated for 5 min with S1P after pre-incubation with PKC kinase inhibitors or with specific antagonists of S1P receptors. We found by Western blot that S1P induced phosphorylation of the gap junction protein Connexin43 (Cx43) on Serine 368 by a PKC-dependent mechanism and that this phosphorylation was mediated by S1P2 and S1P3 but not by S1P1 receptors. F

Published
2017

15. Familial hypercholesterolaemia: cholesterol efflux and coronary disease

Author

Versmissen, Jorie, Vongpromek, Ranitha, Yahya , Reyhana, Net, Jeroen, Van der Zee - van Vark, Leonie, Blommesteijn, Jeanette, Wattimena, Darcos, Rietveld, Trinet, Pullinger, CR, Christoffersen, C, Dahlback, B, Kane, JP, Mulder, Maarten, Sijbrands, E.J.G., Versmissen, Jorie, Vongpromek, Ranitha, Yahya , Reyhana, Net, Jeroen, Van der Zee - van Vark, Leonie, Blommesteijn, Jeanette, Wattimena, Darcos, Rietveld, Trinet, Pullinger, CR, Christoffersen, C, Dahlback, B, Kane, JP, Mulder, Maarten, and Sijbrands, E.J.G.

Published
2016

21. Control of Pesticides 2005

Author

Krongaard, T., Petersen, K. K., and Christoffersen, C.

Subjects
formulations, Control, pesticides
Published
2007

22. Control of pesticides 2003:Chemical Substances and Chemical Preparations

Author

Krongaard, T., Petersen, K. K., and Christoffersen, C.

Abstract

Four different groups of products covered by the pesticide regulation were included in the 2003 analytical chemical authority control: 1) Herbicides containing clodinafop- propargyl, clomazone, fluroxypyr and glyphosate. 2) Fungicides containing bitertanol, fuberidazole, fenhexamid and pencycuron. 3) Insecticides containing cypermethrin, deltamethrin, lambda-cyhalothrin, methoprene and cyromazine. 4) Plant growth regulators containing 1-napthylacetic acid. All products were examined for the content of the respective active ingredients and for the content of OPEO and NPEO. All samples but one containing methoprene complied with the accepted tolerance limits with respect to the content of the active ingredient as specified in Danish Statutory Order on pesticides. None of the 44 examined samples contained OPEO, but 5 of the samples contained NPEO. Three of these five samples were produced before the agreement. On three products, the content of active ingredient was declared only in g/L, but not in % (w/w). One product was declared as the ester and not as the acid

Published
2005

24. Control of Pesticides 2001:Chemical Substances and Chemical Preparations

Author

Krongaard, T., Petersen, K. K., and Christoffersen, C.

Subjects
formulations, pesticides, control
Abstract

The analytical chemical authority control on pesticide products on the Danish market performed in 2001 is reported. Samples of selected groups of pesticides have been collected from the market and analysed to verify whether the actual contents of the respective active ingredients in the products comply with the label-claimed content. The tolerance of deviation from the label-claimed content of active ingredient is set by the Danish pesticide regulation. Three different groups of products covered by the pesticide regulation have been included in the 2001 analytical chemical authority control: 1) herbicides containing pendimethalin and methabenzthiazuron. 2) Fungicides containing azaconazole, tolylfluanid, propamocarb and cyprodinil. 3) Insecticides containing amitraz, diflubenzuron, azamethiphos, malathion, phosalone and phoxim. All products were examined for content of active ingredient. Satisfactory results were found among herbicides containing pendimethalin and methabenzthiazuron, among fungicides containing azaconazole, tolylfluanid, propamocarb and cyprodinil, and among insecticides containing amitraz, phosalone and diflubenzuron. Thus, the twelve analysed samples of these pesticides complied with the accepted tolerances with respect to the content of active ingredients set by the Danish regulation of pesticides. Two of the six samples containing malathion did not comply with the accepted limits of content of active ingredient. The three EC/EWformulations did comply with the accepted limits, but two out of three powder-formulations did not. In one of the powderformulations the content was found to be too high and in the other formulation no malathion was found at all. The manufacturer of the latter products explains that the collected batch is 10 years old and that the malathion is probably evaporated through the paper bag. Nine of the twelve samples containing azamethiphos did not comply with the accepted limits of content of active ingredient. The three powder-formulations did comply with the accepted limits, but all nine ant-boxes and fly strips did not. In all these samples the content was found to be too low. Two of five samples containing phoxim did not comply with the accepted limits of content of active ingredient. One powderformulation had too high content and one ant-box had too low content. All in all only one out of eleven samples of ant-boxes and fly strips/sheets comply with the accepted tolerance with respect to content of active ingredient.

Published
2002

25. Control of Pesticides 2000:Chemical Substances and Chemical Preparations

Author

Krongaard, T., Petersen, K. K., and Christoffersen, C.

Subjects
formulations, pesticides, control
Abstract

Three different groups of products covered by the pesticide regulation have been included in the 2000 analytical chemical authority control: 1) herbicides containing aclonifen, clopyralid, dicamba, quinoclamine, bromoxynil, ioxynil, simazine, and terbuthylazine. 2) Fungicides containing fenpropidin, fluazinam, and kresoximmethyl. 3) Insecticides containing buprofezin and fenazaquin. All products were examined for content of active ingredient. Satisfactory results were found among herbicides containing aclonifen, dicamba, quinoclamine, bromoxynil, and simazine, among fungicides containing fenpropidin, fluazinam, and kresoxim-methyl, and among insecticides containing fenazaquin. Thus, all the eighteen analysed samples of these pesticides complied with the accepted tolerances with respect to content of active ingredients set by the Danish regulation of pesticides. The only product containing buprofezin, one of four samples containing terbuthylazine, one of eleven samples containing clopyralid, and one of four samples containing ioxynil did not comply with the accepted limits of content of active ingredient

Published
2001

30. Modellering af kviksølvs globale spredning - 1. rejsebrev fra Harvard

Author

Sørensen, Anne Lærke, Skov, Henrik, Glasius, Marianne, Johnson, Matthew Stanley, Christensen, J., Jensen, Bjørn, Christoffersen, C., Madsen, H. W., Steffen, A., Sørensen, Britt Tang, Nielsen, Ole John, Sørensen, Anne Lærke, Skov, Henrik, Glasius, Marianne, Johnson, Matthew Stanley, Christensen, J., Jensen, Bjørn, Christoffersen, C., Madsen, H. W., Steffen, A., Sørensen, Britt Tang, and Nielsen, Ole John

Abstract

Spredning af kviksølv via atmosfæren er et globalt problem. Kviksølv har en lang levetid i atmosfæren og deponerer derfor langt fra den oprindelige kilde. Herefter kan det bioakkumulere, hvilket især sker i den akvatiske fødekæde (figur 1). Gennem bioakkumulationen ender kviksølv i det øverste led i fødekæden, som bl.a. inkluderer mennesket.

Published
2008

32. Apolipoprotein M: structure and function

Author

Dahlback, B., Ahnstrom, J., Christoffersen, C., Nielsen, Lars Bo, Dahlback, B., Ahnstrom, J., Christoffersen, C., and Nielsen, Lars Bo

Abstract

Udgivelsesdato: 2008/10

Published
2008

33. Modelling of large non-linear systems integrating thermal and electromagnetic models

Author

Steer, M. B., Christoffersen, C. E., Gutierrez, H., Nakazawa, S., Abdullah, M., and Nutesson, T. W.

Subjects
Hardware_INTEGRATEDCIRCUITS, ING-INF/01 Elettronica
Abstract

The integration of thermal and electromagnetic modeling with traditional circuit simulation is becoming necessary for the analysis of large microwave and millimeter-wave systems. Issues relating to the abstraction required to interface these analyses are discussed particularly as they relate to spatial power combing systems.

Published
1998
Full Text
View/download PDF

35. P.016 Impact of eptinezumab on patient-reported outcomes in patients with prior preventive treatment failures

Author

Goadsby, PJ, Barbanti, P, Ettrup, A, Laurberg Christoffersen, C, Krog Josiassen, M, Phul, R, Sperling, B, and Duong, A

Abstract

Background: In DELIVER, eptinezumab reduced migraine frequency and was well tolerated in patients with migraine and prior preventive treatment failures. This analysis evaluated changes in patient-reported outcomes (PROs). Methods: DELIVER (NCT04418765; phase 3b double-blind study) randomized adults with migraine and 2-4 prior preventive treatment failures to eptinezumab or placebo every 12 weeks. The assessed PROs included EuroQol 5-Dimensions 5-Levels visual analogue scale (EQ-5D-5L VAS); 6-item Headache Impact Test (HIT-6), Patient Global Impression of Change (PGIC), most bothersome symptom (MBS), and Migraine-Specific Quality of Life Questionnaire (MSQ, v2.1). Results: Patients received eptinezumab 100mg (n=299), 300mg (n=294), or placebo (n=298). Mean changes from baseline to Wk12 in EQ-5D-5L VAS scores were 2.0 (100mg, P=0.0007) and 4.4 (300mg, P<0.0001) versus -3.1 (placebo), and were maintained or further improved to Wk24 (2.0, 5.2, -2.8, respectively). Mean baseline HIT-6 total scores were ~66.4, with mean changes of -6.9 (100mg, P<0.0001) and -8.5 (300mg, P<0.0001) versus -3.1 (placebo) at Wk12 that were further improved through Wk24 (-8.9 and -9.9 vs -3.9). PGIC, MBS, and MSQ domain scores showed greater improvement for eptinezumab than placebo. Conclusions: In adults with migraine and prior preventive treatment failures, eptinezumab robustly improved health-related quality of life and migraine-related burden over 24 weeks versus placebo.

Published
2023
Full Text
View/download PDF

36. P.014 Eptinezumab improved work productivity in adults with migraine and prior preventive treatment failures: results from the DELIVER study

Author

Goadsby, PJ, Barbanti, P, Lambru, G, Ettrup, A, Laurberg Christoffersen, C, Krog Josiassen, M, Phul, R, Sperling, B, and Gohil, V

Abstract

Background: This analysis reports the impact of eptinezumab on work productivity and daily activities in patients with migraine and prior preventive treatment failures. Methods: The DELIVER study (NCT04418765) randomized adults with migraine and documented evidence of 2-4 prior preventive treatment failures to receive eptinezumab 100mg, 300mg, or placebo (IV every 12 weeks). At baseline and every 4 weeks, patients completed the migraine-specific 6-question Work Productivity Activity Impairment (WPAI:M) questionnaire (7-day recall). Changes from baseline in WPAI subscores were predefined secondary endpoints and analyzed without control for multiplicity. Results: The full analysis set included 890 patients (100mg, n=299; 300mg, n=293; placebo, n=298). Mean baseline WPAI subscores indicated a negative impact of migraine on work productivity and normal daily activities. Beginning at first post-baseline assessment at Week 4 and through Week 24, eptinezumab demonstrated larger reductions than placebo in absenteeism (P<0.05), presenteeism (P<0.001), work productivity loss (P<0.001), and activity impairment (P<0.001) subscores. Conclusions: In adults with migraine and prior preventive treatment failures, eptinezumab treatment robustly improved migraine-related absenteeism, presenteeism, work productivity loss, and activity impairment as early as Week 4 and throughout the study.

Published
2023
Full Text
View/download PDF

41. Posters * Safety & Quality (I.E. Guidelines, Multiple Pregnancy, Outcome, Follow-Up etc.)

Author

Ocal, P., primary, Sahmay, S., additional, Irez, T., additional, Senol, H., additional, Cepni, I., additional, Purisa, S., additional, Lin, W., additional, Liu, X., additional, Donjacour, A., additional, Maltepe, E., additional, Rinaudo, P., additional, Baumgarten, M. N., additional, Stoop, D., additional, Haentjes, P., additional, Verheyen, G., additional, De Schrijver, F., additional, Liebaers, I., additional, Camus, M., additional, Bonduelle, M., additional, Devroey, P., additional, Nelissen, E. C. M., additional, Van Montfoort, A. P. A., additional, Coonen, E., additional, Derhaag, J. G., additional, Evers, J. L. H., additional, Dumoulin, J. C. M., additional, Costa Lopes, J. R., additional, Mendes dos Santos, J., additional, Portugal Silva Lima, S., additional, Portugal Silva Souza, S., additional, Rodrigues Pereira, T., additional, Barguil Brasileiro, J. P., additional, Pina, H., additional, Lessa, M. L., additional, Genovese Soares, M., additional, Medina Lopes, V., additional, Ribeiro, C. G., additional, Adami, K., additional, Hughes, C., additional, Emerson, G., additional, Grundy, K., additional, Kelly, P., additional, Mocanu, E., additional, Coelho Cafe, T., additional, de Souza Costa, J. B. M., additional, Zavattiero Tierno, N. I., additional, Singh, S., additional, Vitthala, S., additional, Zosmer, A., additional, Sabatini, L., additional, Tozer, A., additional, Davis, C., additional, Al-Shawaf, T., additional, Neri, Q. V., additional, Monahan, D., additional, Rosenwaks, Z., additional, Palermo, G. D., additional, Kalu, E., additional, Thum, M. Y., additional, Abdalla, H. A., additional, Sazonova, A., additional, Bergh, C., additional, Kallen, K., additional, Thurin-Kjellberg, A., additional, Wennerholm, U. B., additional, Griesinger, G., additional, Doody, K., additional, Witjes, H., additional, Mannaerts, B., additional, Tarlatzis, B., additional, Rombauts, L., additional, Heijnen, E., additional, Marintcheva-Petrova, M., additional, Elbers, J., additional, Koning, A., additional, Mutsaerts, M. A. Q., additional, Hoek, A., additional, Mol, B. W., additional, Fadini, R., additional, Guarnieri, T., additional, Mignini Renzini, M., additional, Comi, R., additional, Mastrolilli, M., additional, Villa, A., additional, Colpi, E., additional, Coticchio, G., additional, Dal Canto, M., additional, Dolleman, M., additional, Broer, S. L., additional, Opmeer, B. C., additional, Fauser, B. C., additional, Broekmans, F. J. M., additional, Alama, P., additional, Requena, A., additional, Crespo, J., additional, Munoz, M., additional, Ballesteros, A., additional, Munoz, E., additional, Fernandez, M., additional, Meseguer, M., additional, Garcia-Velasco, J. A., additional, Pellicer, A., additional, Munk, M., additional, Smidt-Jensen, S., additional, Blaabjerg, J., additional, Christoffersen, C., additional, Lenz, S., additional, Lindenberg, S., additional, Bosch, E., additional, Labarta, E., additional, Cruz, F., additional, Simon, C., additional, Remohi, J., additional, Esler, J., additional, Osborn, J., additional, Boissonnas Chalas, C., additional, Marszalek, A., additional, Fauque, P., additional, Wolf, J. P., additional, De Ziegler, D., additional, Cabanes, L., additional, Jouannet, P., additional, Han, A. R., additional, Park, C. W., additional, Cha, S. W., additional, Kim, H. O., additional, Yang, K. M., additional, Kim, J. Y., additional, Song, I. O., additional, Koong, M. K., additional, Kang, I. S., additional, Roszaman, R., additional, Omar, M. H., additional, Nazri, Y., additional, Azantee, Y. W., additional, Murad, A. Z., additional, Zainulrashid, M. R., additional, Wang, N., additional, Le, F., additional, Wang, L. Y., additional, Ding, G. L., additional, Sheng, J. Z., additional, Huang, H. F., additional, Jin, F., additional, Reinblatt, S., additional, Holzer, H., additional, Son, W. Y., additional, Shalom-Paz, E., additional, Chian, R. C., additional, Buckett, W., additional, Dahan, M., additional, Demirtas, E., additional, Tan, S. L., additional, Revel, A., additional, Schejter-Dinur, Y., additional, Revel-Vilk, S., additional, Hermens, R. P. M. G., additional, van den Boogaard, E., additional, Leschot, N. J., additional, Vollebergh, J. H. A., additional, Bernardus, R., additional, Kremer, J. A. M., additional, van der Veen, F., additional, Goddijn, M., additional, Nahuis, M. J., additional, Kose, N., additional, Bayram, N., additional, Hompes, P. G. A., additional, Mol, B. W. J., additional, van der veen, F., additional, van Wely, M., additional, Van Disseldorp, J., additional, Dolleman, M. D., additional, Broeze, K., additional, De Rycke, M., additional, Petrussa, L., additional, Van de Velde, H., additional, Cerrillo, M., additional, Pacheco, A., additional, Rodriguez, S., additional, Gomez, R., additional, Delagado, F., additional, Garcia Velasco, J. A., additional, Desmyttere, S., additional, Verpoest, W., additional, Staessen, C., additional, De Vos, A., additional, Kohls, G., additional, Ruiz, F. J., additional, De la Fuente, G., additional, Toribio, M., additional, Martinez, M., additional, Soderstrom - Anttila, V., additional, Salevaara, M., additional, Suikkari, A. M., additional, Clua, E., additional, Tur, R., additional, Alcaniz, N., additional, Boada, M., additional, Rodriguez, I., additional, Barri, P. N., additional, Veiga, A., additional, Nelen, W. L. D. M., additional, Van Empel, I. W. H., additional, Cohlen, B. J., additional, Laven, J. S., additional, Aarts, J. W. M., additional, Ricciarelli, E., additional, Gomez-Palomares, J. L., additional, Andres-Criado, L., additional, Hernandez, E. R., additional, Courbiere, B., additional, Aye, M., additional, Perrin, J., additional, Di Giorgio, C., additional, De Meo, M., additional, Botta, A., additional, Castilla Alcala, J., additional, Luceno Maestre, F., additional, Cabello, Y., additional, Hernandez, J., additional, Marqueta, J., additional, Pareja, A., additional, Hernandez, E., additional, Coroleu, B., additional, Helmgaard, L., additional, Klein, B. M., additional, Arce, J. C., additional, van Empel, I. W. H., additional, Boivin, J., additional, Verhaak, C. M., additional, Ding, G., additional, Yin, R., additional, Sheng, J., additional, Huang, H., additional, Mancini, F., additional, Gomez, M. J., additional, van den Boogaard, N. M., additional, van der Steeg, J. W., additional, Hompes, P., additional, Boyer, P., additional, Gervoise-Boyer, M., additional, Meddeb, L., additional, Rossin, B., additional, Audibert, F., additional, Sakian, S., additional, Chan Wong, E., additional, Ma, S., additional, Pathak, R., additional, Mustafa, M. D., additional, Ahmed, R. S., additional, Tripathi, A. K., additional, Guleria, K., additional, Banerjee, B. D., additional, Vela, G., additional, Luna, M., additional, Flisser, E. D., additional, Sandler, B., additional, Brodman, M., additional, Grunfeld, L., additional, Copperman, A. B., additional, Baronio, M., additional, Carrascosa, P., additional, Capunay, C., additional, Vallejos, J., additional, Papier, S., additional, Borghi, M., additional, Sueldo, C., additional, Carrascosa, J., additional, Martin Lopez, E., additional, Marcucci, A., additional, Marcucci, I., additional, Salacone, P., additional, Sebastianelli, A., additional, Caponecchia, L., additional, Pacini, N., additional, Rago, R., additional, Alvarez, M., additional, Carreras, O., additional, Arnoldi, M., additional, Diaferia, D., additional, Corbucci, M. G., additional, De Lauretis, L., additional, Kook, M. J., additional, Jung, J. Y., additional, Lee, J. H., additional, Jung, Y. J., additional, Hwang, H. K., additional, Kang, A., additional, An, S. J., additional, Kim, H. M., additional, Kwon, H. C., additional, Lee, S. J., additional, Satoh, M., additional, Imada, J., additional, Ito, K., additional, Migishima, F., additional, Inoue, T., additional, Ohnishi, Y., additional, Kawato, H., additional, Nakaoka, Y., additional, Fukuda, A., additional, Morimoto, Y., additional, Mourad, S., additional, Grol, R. P. T. M., additional, Polyzos, N. P., additional, Valachis, A., additional, Patavoukas, E., additional, Papanikolaou, E. G., additional, Messinis, I. E., additional, Tarlatzis, B. C., additional, Kang, H., additional, Kim, C. H., additional, Park, E., additional, Kim, S., additional, Chae, H. D., additional, Kang, B. M., additional, Jung, K. S., additional, Song, H. J., additional, Ahn, Y. S., additional, Petkova, L., additional, Canov, I., additional, Milachich, T., additional, Shterev, A., additional, Patrat, C., additional, Pocate, K., additional, Juillard, J. C., additional, Gayet, V., additional, Blanchet, V., additional, de Ziegler, D., additional, van der, J. W., additional, Leushuis, E., additional, Steures, P., additional, Koks, C., additional, Oosterhuis, J., additional, Bourdrez, P., additional, and Bossuyt, P. M., additional

Published
2010
Full Text
View/download PDF

45. Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy)

Author

Vorwerk, P, Christoffersen, C T, Müller, J, Vestergaard, H, Pedersen, O, De Meyts, P, Vestergaard, Henrik, Vorwerk, P, Christoffersen, C T, Müller, J, Vestergaard, H, Pedersen, O, De Meyts, P, and Vestergaard, Henrik

Abstract

The insulin receptor (IR) in two brothers with a rare syndrome of congenital muscle fiber type disproportion myopathy (CFTDM) associated with diabetes and severe insulin resistance was studied. By direct sequencing of Epstein-Barr virus-transformed lymphocytes both patients were found to be compound heterozygotes for mutations in the IR gene. The maternal allele was alternatively spliced in exon 17 due to a point mutation in the -1 donor splice site of the exon. The abnormal skipping of exon 17 shifts the amino acid reading frame and leads to a truncated IR, missing the entire tyrosine kinase domain. In the correct spliced variant, the point mutation is silent and results in a normally translated IR. The paternal allele carries a missense mutation in the tyrosine kinase domain. All three cDNA variants were present in the lymphocytes of the patients. Purified IR from 293 cells overexpressing either of the two mutated receptors lacked basal or stimulated IR beta-subunit autophosphorylation. A third brother who inherited both normal alleles has an normal muscle phenotype and insulin sensitivity, suggesting a direct linkage of these IR mutations with the CFTDM phenotype.

Published
1999

Catalog

Books, media, physical & digital resources
See catalog results