Výsledky vyhledávání

Akademický článek

Identification of apolipoprotein E polymorphism by using synthetic oligonucleotides.

Autor: H J Smeets, J Poddighe, P M Stuyt, A F Stalenhoef, H H Ropers, B Wieringa

Publikováno v: Journal of Lipid Research, Vol 29, Iss 9, Pp 1231-1237 (1988)

A procedure based on selective hybridization with allele-specific oligonucleotides was developed for typing apolipoprotein E variants from human genomic DNAs. Two sets of oligonucleotides were synthesized and used to discriminate either between epsil

Externí odkaz: https://doaj.org/article/e3f682084f1a4a83ab83582c24bd07b4

Zobrazit plný text záznamu

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

Autor: Thomas A. Cooper, H. Jaeger, D. Furutama, M. Siciliano, Giovanni Antonini, Geneviève Gourdon, S. Michalowski, E. Eddy, R. Krahe, John W. Day, S. E. Harris, J. P. Barbet, M. Shimizu, G. B. Browne, M. Gosling, A. V. Philips, Loreto Martorell, P. Maire, Glenn E. Morris, Zeljka Korade, N. Carey, Richard R. Sinden, C. A. Thornton, A. M. Mitchell, M. Baiget, A. Balasubramanyam, L. P.W. Ranum, Shigeru Sato, M. Eriksson, T. Kobayashi, M. Khajavi, J. Mathieu, F. K. Gould, B. Eymard, D. Pribnow, R. H. Singer, J. D. Griffith, C. Liquori, M. Wagner, T. Ansved, D. E. Housman, N. Spring, A. Johansson, S. Salvatori, B. Luciano, Claudia Abbruzzese, I. Gonzales, J. Adelman, J. P. Mounsey, B. Wieringa, J. Waring, B. Perryman, D. Furling, M. Devillers, H. Furuya, F. Lehmann, H. Yamagata, M. S. Mahadevan, Darren G. Monckton, Geoffrey P. Miller, D. Hilton Jones, A. S. Lia-Baldini, J. Westerlaken, M. Swanson, S. J. Tapscott, T. R. Klesert, R. D. Wells, N. Ohsawa, H. Seznec, H. Moore, E. J. Chen, M. Hamshere, Tetsuo Ashizawa, U. Kvist, A. D. Roses, C. Junien, Catherine L Winchester, M. Gennarelli, M. Kinoshita, K. Johnson, Christopher E. Pearson, Lubov Timchenko, J. R. Moorman

Publikováno v: Neurology. 54:1218-1221

Myotonic dystrophy (DM; OMIM 160900, also known as dystrophia myotonica, myotonia atrophica and Steinert disease) is an autosomal dominant myotonic myopathy associated with abnormalities of other organs, including eyes, heart, endocrine system, centr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::05f05337336afd1fbc3491f94730a7cf
https://doi.org/10.1212/wnl.54.6.1218

Zobrazit plný text záznamu

Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells

Autor: Jacques H. Veerkamp, A.A.G.M. Benders, Patricia J. T. A. Groenen, Frank Oerlemans, B. Wieringa

Publikováno v: Journal of Clinical Investigation, 100, pp. 1440-1447
Journal of Clinical Investigation, 100, 1440-1447
Journal of Clinical Investigation, 100, 6, pp. 1440-1447
Journal of Clinical Investigation, 100, 1440-1447. Rockefeller univ press

Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG)n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. To obtain clues

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce28996b670940c7fea91ba5402bc7b5
https://hdl.handle.net/2066/28416

Zobrazit plný text záznamu

Use of gene targeting for compromising energy homeostasis in neuro-muscular tissues: The role of sarcomeric mitochondrial creatine kinase

Autor: J.M.A. van Deursen, M.L.P. Brückwilder, Arend Heerschap, J.C.M. Koudijs, Benjamin Perryman, Dirk Pette, Karen Steeghs, B. Wieringa, Frank Oerlemans, Paul H.K. Jap, A.F.J. de Haan, Wim Ruitenbeek

Publikováno v: Journal of Neuroscience Methods, 71, 29-41. Elsevier
Journal of Neuroscience Methods, 71, 1, pp. 29-41
Journal of Neuroscience Methods, 71, 29-41
Steeghs, K, Heerschap, A, de Haan, A, Ruitenbeek, W, Oerlemans, F, Deursen, J, Perryman, B, Pette, D, Br|ckwilder, M, Koudijs, J, Jap, P & Wieringa, B 1997, ' Use of gene targeting for compromising energy homeostasis in neuromuscular tissues:The role of sarcomeric mitochondrial creatine kinase ', Journal of Neuroscience Methods, vol. 71, pp. 29-41 . https://doi.org/10.1016/S0165-0270(96)00124-0
Journal of Neuroscience Methods, 71, pp. 29-41

We have introduced a single knock-out mutation in the mitochondrial creatine kinase gene (ScCKmit) in the mouse germ line via targeted mutagenesis in mouse embryonic stem (ES) cells. Surprisingly, ScCKmit -/- muscles, unlike muscles of mice with a de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d426a4028c2686ff0ba6b416f176c7ed
https://doi.org/10.1016/s0165-0270(96)00124-0

Zobrazit plný text záznamu

Muscle Creatine Kinase-deficient Mice

Autor: K. Anflous, Philippe Mateo, J.M.A. van Deursen, A.V. Kuznetsov, Renée Ventura-Clapier, Vladimir Veksler, B. Wieringa

Publikováno v: Journal of Biological Chemistry. 270:19921-19929

Functional properties of in situ mitochondria and of mitochondrial creatine kinase were studied in saponin-skinned fibers taken from normal and M-creatine kinase-deficient mice. In control animals, apparent Km values of mitochondrial respiration for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77b0ec118aed22ef766f3d3580cb7682
https://doi.org/10.1074/jbc.270.34.19921

Zobrazit plný text záznamu

Creatine kinase (CK) in skeletal muscle energy metabolism: a study of mouse mutants with graded reduction in muscle CK expression

Autor: Arend Heerschap, Paul H.K. Jap, J. M. A. van Deursen, H.J. ter Laak, B. Wieringa, Wim Ruitenbeek

Publikováno v: Proceedings of the National Academy of Sciences. 91:9091-9095

To understand better the role of the creatine kinase (CK)/phosphocreatine system in muscle bioenergetics, a series of mouse mutants with subnormal muscle CK (M-CK) expression has been generated. Here we compare the phenotypes of mice deficient in M-C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede924e3be82b3f0ad4fe4e4fee222bb
https://doi.org/10.1073/pnas.91.19.9091

Zobrazit plný text záznamu

Approaching the multifaceted nature of energy metabolism: inactivation of the cytosolic creatine kinases via homologous recombination in mouse embryonic stem cells

Autor: B. Wieringa, J. van Deursen

Publikováno v: Molecular and Cellular Biochemistry. :263-274

To study the physiological role of the creatine kinase/phosphocreatine (CK/PCr) system in cells and tissues with a high and fluctuating energy demand we have concentrated on the site-directed inactivation of the B- and M-CK genes encoding the cytosol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddfdf696157f8e027dbae262469fe51c
https://doi.org/10.1007/bf01267959

Zobrazit plný text záznamu

Contents, Vol. 66, 1994

Autor: H. Zha, P. Mathern, R. Hauptschein, R. Dalla-Favera, T. Matilla, Ja. Uría, V.M. Chapman, Jp. Freije, C.H. van Os, G. Gaidano, J.M. de Stoppelaar, E.A. Goldmuntz, D.D. Nguyen, A. Fueyo, R.S.K. Chaganti, T. Theil, Richard M. Myers, Y. Hoi-Sen, I. Miyazaki, C. Klett, G. Tallini, L.J. Crofford, K. Moriwaki, F.Z. Bischoff, A. Geurts van Kessel, K.J. Burt, J. Akbarzadeh, L.A. Cannizzaro, B. Hoebee, X. Estivill, G.W. Montgomery, P.H. Rao, A.M.V. Duncan, R. Gaedigk, R.L. Wilder, D.O. Weghuis, M.. Ladanyi, J. Rosai, Y. Matsuda, David A. Wenger, U. Zechner, J.A. Sise, S. Adolph, P.M.T. Deen, H. Suzuki, R.J. Sinke, V. Hanrahan, B. Wieringa, S. Monard, C. López-Otín, Y. Du, V.V.V.S. Murty, Y.Q. Chen, A.M. Pendás, Sc. Jhanwar, B.H. Robinson, J.M. Cash, R.F. Suijkerbuijk, D.F. Hill, Gert-Jan van Ommen, L.G. Shaffer, H.-M. Dosch, Mohammad A. Rafi, T. Möröy, E.F. Remmers

Publikováno v: Cytogenetic and Genome Research. 66:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77530a8f386d3c7f0c4644b96cd48c63
https://doi.org/10.1159/000133700

Zobrazit plný text záznamu

Contents, Vol. 65, 1994

Autor: R. Tupler, N.G. Laing, H.J. Eyre, M.A. Garrido-Ramos, N.A. Mazurok, S.J. Goss, D. Francis, A. Vandenberghe, S.M. Zakian, L. Kedes, E. Le Guern, M. Gugenheim, C. Bonnebouche, S.A. Lane, P.F.R. Little, M. Cortinovis, C. Meredith, D.A. Miller, E.I. Yantsen, D.F. Callen, E.Kh. Ginsburg, C.H. van Os, G. Melmer, R. Gouider, L. Tiepolo, F. Sturtz, M. Lafage-Pochitaloff, A. Plet, Y. Agid, R. Lozano, B. Chérif-Zahar, Angela Maria Vianna-Morgante, C. Ruiz Rejón, P. Bouche, M Janson, E. Dainotti, I. Siedlaczck, N.M. Matveeva, J.-M. Blanchard, D.O. Weghuis, A. Mincheva, N. Ravisé, J.T. Epplen, David W. Hale, O.J. Miller, T.M. Fink, M. Jamilena, I. Salvignol, A. Brice, A. Geurts van Kessel, P. Maraschio, P.M.T. Deen, B. Wieringa, G. Chazot, S. Tardieu, L.L. Deaven, P. Calvas, I. Todorov, T.B. Nesterova, J. Imbert, C. Cerdan, Q.-Q. Cai, Anne Lise Børresen, Peter Lichter, J.A.M. Graves, P.-M. Gonnaud, D. Depétris, R.A. Sturm, J.L. Cassady, S.D. Wilton, M. Ruiz Rejón, P.A. Akkari, A. Blancher, O. Riess, M.-G. Mattéi, Carla Rosenberg, A.G. Shilov, D.I. Francis, M. Nordeskjöld, D. Werner, S. Kredtke

Publikováno v: Cytogenetic and Genome Research. 65:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::435361dce90327342265c6b0f6662d9c
https://doi.org/10.1159/000133634

Zobrazit plný text záznamu

Reverse Mutation in Myotonic Dystrophy

Autor: Marcel R. Nelen, C. E. M. De Die, H.H. Ropers, B. A. Van Oost, B. Wieringa, G. Jansen, Hubert J.M. Smeets, Willy M. Nillesen, H.G. Brunner, C. J. Höweler

Publikováno v: New England Journal of Medicine. 328:476-480

Myotonic dystrophy is a multisystem disorder that is transmitted in an autosomal dominant fashion and is characterized by muscular weakness and atrophy, clinical and electromyographic evidence of myotonia, ocular cataract, and various other abnormali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c16af27dd374bb828ccc484ac417ce16
https://doi.org/10.1056/nejm199302183280705

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání