A New Clinical Condition Linked to a Novel Mutation in Lamins A and C with Generalized Lipoatrophy, Insulin-Resistant Diabetes, Disseminated Leukomelanodermic Papules, Liver Steatosis, and Cardiomyopathy

Autor: Sophie Christin-Maitre, Corinne Vigouroux, F. Caux, O. Chazouillères, J.-C. Courvalin, L. Laroche, O. Lascols, Alan A. Cohen, B. Buendia, Jacqueline Capeau, E. Dubosclard

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 88:1006-1013

A-Type lamins, arising from the LMNA gene, are intermediate filaments proteins that belong to the lamina, a ubiquitous nuclear network. Naturally occurring mutations in these proteins have been shown to be responsible for several distinct diseases th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b47b3862443c872ec87c28f34358b0d
https://doi.org/10.1210/jc.2002-021506

Contents Vol. 90, 2000

Autor: H. Hameister, R.H. Martin, Eric D. Green, K. Nayernia, C.M. Tsiapalis, S.I. Anderson, W.J. Schwaeble, Alan Archibald, A. Eggen, H. Hayes, S. Weigend, S. Kubalak, K. Hashimoto, T. Escudero, R. Tanuma, P.A. Robinson, M. Schmid, P. Burfeind, V. Fillon, M.A. Ferguson-Smith, K. Wimmers, M. van Bilsen, M.E. Delany, S. Ikegawa, J.P. Leek, J.L. Doyle, N.A. Jenkins, N. Serdukova, K. Kratochwil, F.J. Charchar, W. Lu, S. Bremer, M.F. Maurer, J. Smith, C. Szpirer, Udaya DeSilva, J. Uedelhoven, S. Sexson, K. Ladjali-Mohammedi, J. Szpirer, H.C. Ardley, A.S. Graphodatsky, S. Munné, L. Carim-Todd, J. Burnside, P.A. Doevendans, G. Liu, J. Grønlund, U. Holmskov, J-M. Buerstedde, D. Conklin, N.G. Copeland, M.R. Speicher, G.P. Di Meo, D.W. Burt, N.A.A. Balatsos, S. A’Hara, F. Deák, T.V. Karamisheva, D.J. Gilbert, D.K. Griffin, S.A. Rose, M. Sano, M. Runte, F. Pitel, P. Laurent, J. Hillel, L. Módis, Q. Shi, T.E. Whitmore, N.G.S. Tan, M. Morisson, C. Steinlein, J. Kaufman, F. Raymond, N. Courtis, P. Zaragoza, A. Schulz, J.A.M. Graves, N. Kleiter, I. Kiss, H. Sheng, T. Haaf, M. Tixier-Boichard, J.H. Calvo, R. Bronsaer, M. Schartl, C. Rodellar, M. Balázs, I. Artner, M. Hoehn, M. Hughes, G. Dekomien, P. van Vooren, Webb Miller, N.S. Zhdanova, M .A.M. Groenen, P.R. Lozano, T. Burke, S. Tascou, T. Liehr, C.M. Stover, M. Escarceller, J. Schleypen, J.-C. Courvalin, U. Claussen, M. Gautier, R. Osta, A. Mäki-Tanila, P. Perelman, T.M. Skinner, K. Krysan, N.M. Astakhova, A.F. Markham, A. Vignal, S. Marcos, D. Sable, H.H.Q. Heng, E. Minc, I. Nanda, P. Liénard, H. Marquardt, H.H. Cheng, R.P.M.A. Crooijmans, R. Kreutz, R. Fries, F. Yang, J. Cohen, P.A. Thomson, R. Zákány, S. Mizuno, M. Guttenbach, Y. Nakamura, M. Svartman, A. Robic, L. Iannuzzi, M. Rivière, T.A. Deisher, S. Muratoglu, M. Sandalinas, M. Hirai, B. Buendia, C. Dixkens, C.V. Beechey, N. Bumstead, L. Sumoy, J. Kusuda, B. Schreiner, R. Gödde, Y. Koshizuka, J.T. Epplen, N.B. Rubtsov, N.L. Lopez-Corrales, A. Law, X. Estivill, M. Samiotaki, W. Engel

Publikováno v: Cytogenetic and Genome Research. 90:343-345

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d6410331326367c6c8710a1e99789185
https://doi.org/10.1159/000056804

Biochemical characterization of nuclear pore complex protein gp210 oligomers

Autor: C, Favreau, R, Bastos, J, Cartaud, J C, Courvalin, P, Mustonen

Publikováno v: European journal of biochemistry. 268(14)

The membrane-spanning glycoprotein gp210 is a major component of the nuclear pore complex. This nucleoporin contains a large cisternal N-terminal domain, a short C-terminal cytoplasmic tail, and a single transmembrane segment. We show here that dimer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::82f85a62b2448099f9641537cfce7c7c
https://pubmed.ncbi.nlm.nih.gov/11453980

Nuclear protein antigens in primary biliary cirrhosis

Autor: B. Terjung, H. J. Worman, J.-C. Courvalin

Publikováno v: Immunology and Liver ISBN: 9789401057684

Antinuclear antibodies are frequently present in individuals with primary biliary cirrhosis (PBC). Although antinuclear antibodies of several different specificities can be present, those against two types of antigens appear to be highly specific for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6b87bb62b6d4680de69d8f4b8a041d15
https://doi.org/10.1007/978-94-011-4000-3_22

Subject Index Vol. 90, 2000

Autor: M.A. Ferguson-Smith, J.L. Doyle, M. Tixier-Boichard, A. Vignal, D. Sable, H.H.Q. Heng, N.M. Astakhova, S. Marcos, L. Iannuzzi, T.A. Deisher, S. Muratoglu, R. Kreutz, S. Mizuno, P.A. Thomson, M. Rivière, M. Sandalinas, K. Ladjali-Mohammedi, J. Schleypen, M.E. Delany, S. Ikegawa, P.R. Lozano, C.M. Stover, C.M. Tsiapalis, J. Grønlund, J. Smith, L. Carim-Todd, S. Bremer, A. Law, J. Hillel, M.F. Maurer, P. Zaragoza, N. Courtis, P. Perelman, R.P.M.A. Crooijmans, J. Szpirer, I. Kiss, M. Guttenbach, T. Burke, S. Tascou, H. Hameister, Eric D. Green, X. Estivill, K. Nayernia, H.C. Ardley, A. Eggen, A. Schulz, S.I. Anderson, S. Weigend, U. Claussen, M. Hirai, Webb Miller, H. Sheng, N.A.A. Balatsos, C.V. Beechey, N. Bumstead, S. Munné, C. Szpirer, D. Conklin, R. Osta, T.M. Skinner, P. van Vooren, B. Buendia, M. Samiotaki, J.H. Calvo, W. Engel, F. Pitel, T. Liehr, H. Hayes, N.G.S. Tan, M. Morisson, C. Steinlein, M. Sano, M. Runte, N. Serdukova, K. Kratochwil, J. Kaufman, C. Rodellar, J.A.M. Graves, A.S. Graphodatsky, W.J. Schwaeble, D.K. Griffin, T.E. Whitmore, P.A. Doevendans, Alan Archibald, L. Sumoy, Udaya DeSilva, C. Dixkens, S. Kubalak, J. Cohen, J. Kusuda, N.S. Zhdanova, N.G. Copeland, D.W. Burt, S. A’Hara, G. Dekomien, M. van Bilsen, M.R. Speicher, M. Schartl, Q. Shi, J.-C. Courvalin, T. Escudero, V. Fillon, M. Hoehn, M. Hughes, Y. Nakamura, M. Svartman, M. Gautier, A. Mäki-Tanila, H. Marquardt, E. Minc, I. Nanda, B. Schreiner, G. Liu, F. Yang, R. Fries, R. Gödde, R. Zákány, P.A. Robinson, M. Schmid, A.F. Markham, P. Burfeind, N. Kleiter, G.P. Di Meo, N.A. Jenkins, J.T. Epplen, R. Bronsaer, W. Lu, N.B. Rubtsov, S.A. Rose, S. Sexson, N.L. Lopez-Corrales, A. Robic, Y. Koshizuka, K. Krysan, P. Liénard, H.H. Cheng, M. Escarceller, F. Raymond, J. Uedelhoven, U. Holmskov, T.V. Karamisheva, R.H. Martin, P. Laurent, M. Balázs, K. Hashimoto, R. Tanuma, J-M. Buerstedde, F. Deák, D.J. Gilbert, J. Burnside, T. Haaf, L. Módis, I. Artner, M .A.M. Groenen, K. Wimmers, J.P. Leek, F.J. Charchar

Publikováno v: Cytogenetic and Genome Research. 90:341-342

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fb8530c09622f7864a599a5605c735a1
https://doi.org/10.1159/000056803