Zobrazeno 1 - 10
of 42
pro vyhledávání: '"S. Fojo"'
Publikováno v:
Journal of Lipid Research, Vol 29, Iss 3, Pp 273-278 (1988)
Apolipoprotein (apo) C-II deficiency is characterized by elevated plasma triglycerides, chylomicrons, and very low density lipoproteins, as well as reduced levels of low density and high density lipoproteins. A subject with apoC-II deficiency has bee
Externí odkaz:
https://doaj.org/article/aaa322597e3e463884cf05bdd972e1d3
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 76:793-796
Lipoprotein lipase, a lipolytic enzyme essential for normal hydrolysis of triglycerides in very low density lipoprotein (VLDL) and chylomicrons, is found in several cell types, including macrophages. The role of lipoprotein lipase in mediating the up
Publikováno v:
European Journal of Epidemiology. 8:59-63
The underlying molecular defects that lead to a deficiency of lipoprotein lipase in two patients from different kindreds presenting with the familial hyperchylomicronemia syndrome have been identified. Sequence analysis of amplified LPL cDNA of the p
Autor:
L. Iannuzzi, C. Broccardo, Y. Mao, J.J.M. van Groningen, W.D. Phillips, J. Wang, J. Rathjen, T. Krieg, D.S. Gallagher, F. Sangiuolo, P. Lichter, M. Wilbrink, P.D. Rathjen, N.W. Richards, K.-M. Debatin, Y. Matsuda, A. Vaiman, K.J. Portbury, P. Perelman, F. Bourgeois, X. Huang, D.L. Gumucio, I. Jentsch, S.S. Bhattacharya, Q. Jiang, K. Ying, I. Matera, A. Rösen-Wolff, C. Mas, K. Ogura, J. Koch, S. Kiuru-Kuhlefelt, C. Auffray, P. Denèfle, R. Allikmets, M. Miettinen, S. Schmutz, M.P. Hildebrand, I. Arnould, C. Prades, R. Sauer, C. Sapienza, R.B. Voyle, F. Yang, M. Gahr, L.J. Coignet, A. Kuroiwa, C.G. Scheuerpflug, N. Serdukova, W.O. Bauer, L.M. Gulluyan, B. Brewer, M. Simonneau, J. Fanburg-Smith, A.S. Graphodatsky, I. Kola, C. Stover, M. Sancandi, J. Dai, W. El-Rifai, Y. Obara, M. Bozzali, M.-D. Devignes, E. Reichenberger, A.G. Marneros, T. Otoguro, B.R. Olsen, A. Botta, C. Drögemüller, A. Mincheva, W. Schwaeble, W. Wang, F. Jakob, S-I. Kawada, L. Naudin, B. Jordan, T. Isobe, M.R. Speicher, G. Palumbo, L. Granjon, S. Knuutila, C. Chelala, A. Bulfone, K. Engel, A. Hoffmann, E. Kater-Baats, H. Kuiper, R. Ravazzolo, G. Gradl, S. Fojo, Z. Zhou, M. Schmid, N. Serakıncı, D. Di Berardino, J. Rubes, I. Ceccherini, K. Matsumoto, B. Dallapiccola, K. Tsuchiya, J.M. Moalic, M.A. Lee-Kirsch, S. Galiègue-Zouitina, G. Merkx, S. Thomas, M.A.J. Weterman, V.T. Volobouev, M. Dean, M. Stumm, G. Novelli, F. Guimiot, N. Tommerup, M. Fredholm, A. Baldini, V. Jurecic, N.B. Atkin, W. Zhao, C. Hansen, W. Nie, G.P. Di Meo, I. Gustavsson, M. van Rooijen, S. Cirera, A.T. Remaley, J. Osorio, S. Imbeaud, R. Cinti, F. Amati, R.-D. Wegner, E. Conti, S. Murray, A. Geurts van Kessel, A. Pizzuti, C.M. Owczarek, K. Friis Henriksen, S. Halford, C. Lafargue, R. Tang, C.Y. Gregory-Evans, S. Cui, C.P. Popescu, P.J. Hertzog, T. Leeb, T. Ogura, P.E. Schaner, M. Kuro-o, Diederik R.H. de Bruijn, S. Shulenin, P. Wieacker, W. Rens, N.A. Jenkins, B. Pedersen, M. Fava, H.R. Treutlein, C. Roumier, M. Berloco, F. Pardo-Manuel de Villena, M. Rosier, P.C.M. O’Brien, N.D. Ebenezer, L. Kutschke, D. Fukushi, E.P. Cribiu, A. Ratti, G. Beck, O. Distl, M.-F. Luciani, S.E. Antonarakis, M. Eleveld, Y. Huang, R.M. Hope, J. Kere, J.A. Kennell, Y. Xie, B.S. Milne, M.A. Ferguson-Smith, S. Neubauer, J. Womack, R. Zoorob, H. Hayes, A. Eggen, N.G. Copeland, B. Levacher, Y.-A. Lee, B. Sicard, M. Bak, S.X. Liang, D.J. Gilbert, G. Stranzinger, E. Paditz, H. Mehenni, R. Wieser, G. Chimini, M.G. Mattei, L.M. Schriml, S. Keindorff, I. Nanda, M. Shichiri
Publikováno v:
Cytogenetic and Genome Research. 92:363-365
Publikováno v:
Journal of Biological Chemistry. 266:473-477
The molecular defects resulting in a deficiency of lipoprotein lipase activity in a patient with the familial hyperchylomicronemia syndrome have been identified. Increased lipoprotein lipase mass but undetectable lipoprotein lipase activity in the pa
Publikováno v:
Proceedings of the National Academy of Sciences. 87:3474-3478
The molecular defect that leads to a deficiency of lipoprotein lipase (LPL) activity in the proband from a Bethesda kindred has been identified. The pre- and post-heparin plasma LPL mass in the proband was elevated when compared to controls; however,
Autor:
Rando Allikmets, Sergey Shulenin, Alan T. Remaley, S. Fojo, B. Brewer, Lynn M. Schriml, Michael Dean
Publikováno v:
Scopus-Elsevier
We characterized a new human ATP-binding cassette (ABC) transporter gene that is highly expressed in the liver. The gene, ABCG5, contains 13 exons and encodes a 651 amino acid protein. The predicted protein is closely related to the Drosophila white
Autor:
N.W. Richards, M. Gahr, L.J. Coignet, G. Novelli, C. Hansen, D.L. Gumucio, A. Geurts van Kessel, N. Tommerup, L.M. Gulluyan, N. Serakıncı, M. Sancandi, K. Friis Henriksen, B. Dallapiccola, N.A. Jenkins, M. Shichiri, G.P. Di Meo, I. Gustavsson, B.R. Olsen, S.X. Liang, L. Kutschke, J.M. Moalic, G. Beck, A. Baldini, P. Wieacker, D.J. Gilbert, R.-D. Wegner, F. Sangiuolo, W.D. Phillips, J. Fanburg-Smith, A.S. Graphodatsky, C.P. Popescu, M. Kuro-o, G. Stranzinger, J.A. Kennell, M. Schmid, E. Paditz, Y. Obara, H. Kuiper, W. El-Rifai, Y. Xie, J. Wang, S. Shulenin, A.T. Remaley, S. Thomas, K. Ogura, A. Botta, J. Koch, K. Tsuchiya, B.S. Milne, P.D. Rathjen, C. Broccardo, A. Bulfone, C. Drögemüller, S-I. Kawada, S. Knuutila, J.J.M. van Groningen, J. Rathjen, T. Isobe, G. Palumbo, M. Fava, H.R. Treutlein, M.A. Ferguson-Smith, S. Fojo, L. Iannuzzi, P. Denèfle, C. Roumier, M. Wilbrink, K. Engel, T. Krieg, K.-M. Debatin, G. Merkx, G. Chimini, I. Ceccherini, Y. Mao, F. Pardo-Manuel de Villena, M. Rosier, F. Yang, N.D. Ebenezer, M.G. Mattei, P.C.M. O’Brien, M. Miettinen, A. Mincheva, W. Schwaeble, D.S. Gallagher, R. Sauer, D. Fukushi, S. Galiègue-Zouitina, Y. Matsuda, B. Pedersen, M. Berloco, A. Kuroiwa, S. Cirera, E.P. Cribiu, S. Imbeaud, Z. Zhou, F. Amati, C. Sapienza, Diederik R.H. de Bruijn, M.A.J. Weterman, A. Ratti, W. Wang, B. Brewer, V. Jurecic, C. Mas, K. Matsumoto, C.G. Scheuerpflug, N. Serdukova, V.T. Volobouev, A. Vaiman, M. Simonneau, S. Neubauer, J. Womack, C. Auffray, M.-D. Devignes, M.A. Lee-Kirsch, F. Jakob, K.J. Portbury, R. Allikmets, H. Mehenni, T. Ogura, R. Cinti, O. Distl, W. Zhao, M.-F. Luciani, S.E. Antonarakis, E. Conti, L. Granjon, L. Naudin, M.R. Speicher, R.B. Voyle, C.M. Owczarek, Y.-A. Lee, F. Guimiot, R. Zoorob, H. Hayes, S. Schmutz, L.M. Schriml, J. Dai, C. Chelala, E. Kater-Baats, P.J. Hertzog, P.E. Schaner, J. Kere, B. Sicard, A.G. Marneros, I. Arnould, S. Keindorff, E. Reichenberger, P. Perelman, F. Bourgeois, P. Lichter, R.M. Hope, I. Nanda, M. Eleveld, R. Tang, C.Y. Gregory-Evans, S. Cui, W. Nie, Y. Huang, A. Hoffmann, M. Fredholm, C. Prades, M.P. Hildebrand, B. Jordan, D. Di Berardino, M. Bak, I. Jentsch, J. Rubes, A. Rösen-Wolff, S. Kiuru-Kuhlefelt, M. Dean, T. Otoguro, S. Halford, C. Lafargue, R. Ravazzolo, M. Bozzali, W.O. Bauer, G. Gradl, S.S. Bhattacharya, Q. Jiang, S. Murray, M. van Rooijen, K. Ying, J. Osorio, X. Huang, M. Stumm, I. Matera, T. Leeb, W. Rens, N.B. Atkin, A. Eggen, I. Kola, C. Stover, A. Pizzuti, R. Wieser, N.G. Copeland, B. Levacher
Publikováno v:
Cytogenetic and Genome Research. 92:361-362
Autor:
H. B. Brewer, S. S. Fojo
Publikováno v:
Journal of internal medicine. 231(6)
Hypertriglyceridaemia, as defined by fasting triglyceride levels of greater than 2.8 mmol l-1, is a prevalent dyslipoproteinaemia in our population. The underlying pathophysiological mechanisms that result in elevations of plasma triglycerides are he
Autor:
S S, Fojo, J L, de Gennes, U, Beisiegel, G, Baggio, A F, Stalenhoef, J D, Brunzell, H B, Brewer
Publikováno v:
Advances in experimental medicine and biology. 285