Zobrazeno 1 - 10 of 194 pro vyhledávání: '"R. Mollicone"'
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Abstracts of the 37th American Cytogenetics Conference
Autor: S.M. White, R. Mollicone, M. Rozek, Z. Tümer, T. Opiola, J.-J. Candelier, C.R. Bonvicino, H. Winking, A. Hebinck, H. Kuiper, Ch. Zühlke, H. Yasue, J.M. Perez de la Lastra, S. Kiuchi, A. Pienkowska, N. Arnal, B. Gläser, C. Ngo, H. Mehenni, C. Steinlein, P.S. D’Andrea, R.P.M.A. Crooijmans, A. Eggen, C. Zijlstra, M. Yerle, U. Butzmann, S.E. Antonarakis, Y.E. Shahein, E. Anton, R. Korstanje, D.F. de Andres-Cara, N.A. de Haan, R. Heilig, B. Brenig, J. Egozcue, C. Delcros, M. Østergaard, G.F. Gillissen, A. Wandall, R. Kreutz, R.J. McKinlay Gardner, F. Piumi, M. Mahony, A. Robic, C. Ozouf-Costaz, N. Tommerup, T. Haaf, C. Rodellar, C. Szpirer, F. Vidal, P.A. Ioannou, P.M. Kroisel, C. Drögemüller, K. Buchet-Poyau, Y. Takagaki, T.L. Harboe, C. Wilhelm, F. Porto-Foresti, J. Barciszewski, A.C.M. Bonné, M.T. Roldan-Arjona, C. Rogel-Gaillard, H. Hiraiwa, Y. Muneta, M. Grzmil, P. Zaragoza, C. Bonillo, H.A. van Lith, J. Kunz, A. Dalski, O. Distl, F. Laccone, D. Milan, C. Windpassinger, T. Awata, H. Uenishi, J. Szpirer, R. Fries, A.A. Bosma, F. Foresti, M.F.Z. Daniel-Silva, H. Hayes, R. Roy, H. Omran, P. Pinton, S. Schlickum, E. Petek, E. Schwinger, L. Li, P. Coullin, C. Knorr, L.F.M. van Zutphen, J. Blanco, H.P. Klinger, A. Volz, J. Mißbach, I.B. Otazu, E. Northrop, C. Andersen, P. Burfeind, M. Den Bieman, M. Meins, R. Melkaoui, J. Beck, U. Radhakrishna, M. Gautier, R. Oriol, L.F. Almeida-Toledo, I. Nanda, K. Wagner, F. Habermann, V. Petrovic, M. Schmid, R. Yamamoto, P. Moore, P. van Vooren, G. Hauke, H. Zürcher, F. Hildebrandt, C.G. Ziegler, J. Koch, P. Laurent, J.L. Williams, M.A.M. Groenen, J.J. Garrido, C. Schelling, S. Yadav, C. Kosan, H.R. Slater
Publikováno v: Cytogenetic and Genome Research. 97:261-275
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::25ae8045d27dfe35b1f201845d6a7df6
https://doi.org/10.1159/000066630
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2
Contents Vol. 97, 2002
Autor: E. Petek, M. Rozek, Z. Tümer, S.E. Antonarakis, E. Anton, Ch. Zühlke, J.L. Williams, U. Butzmann, M.A.M. Groenen, E. Northrop, A.C.M. Bonné, J.M. Perez de la Lastra, H.R. Slater, N.A. de Haan, R. Heilig, C. Delcros, Y.E. Shahein, J.J. Garrido, F. Porto-Foresti, M. Østergaard, C. Steinlein, A. Robic, G.F. Gillissen, A. Volz, R.J. McKinlay Gardner, T.L. Harboe, B. Brenig, R. Korstanje, S.M. White, M. Den Bieman, R. Melkaoui, R. Kreutz, F. Piumi, J. Beck, D.F. de Andres-Cara, T. Haaf, C. Rodellar, U. Radhakrishna, M. Gautier, N. Tommerup, K. Wagner, I. Nanda, K. Buchet-Poyau, L.F. Almeida-Toledo, P.S. D’Andrea, P.M. Kroisel, M. Grzmil, C. Schelling, M. Mahony, C. Drögemüller, J. Barciszewski, M. Meins, F. Vidal, C. Zijlstra, S. Yadav, C. Bonillo, C. Kosan, V. Petrovic, J. Egozcue, F. Habermann, M. Schmid, R. Roy, A.A. Bosma, F. Foresti, C. Windpassinger, H. Uenishi, R. Yamamoto, H. Hiraiwa, A. Dalski, R. Mollicone, J. Szpirer, R. Fries, C. Wilhelm, R. Oriol, C. Ozouf-Costaz, M.F.Z. Daniel-Silva, H. Hayes, E. Schwinger, P. Coullin, C. Andersen, P. Pinton, M.T. Roldan-Arjona, C. Rogel-Gaillard, J.-J. Candelier, L.F.M. van Zutphen, H.A. van Lith, P.A. Ioannou, O. Distl, H. Omran, J. Kunz, S. Schlickum, T. Awata, L. Li, H. Kuiper, H.P. Klinger, P. van Vooren, S. Kiuchi, J. Mißbach, N. Arnal, A. Pienkowska, D. Milan, C. Ngo, H. Mehenni, R.P.M.A. Crooijmans, T. Opiola, B. Gläser, I.B. Otazu, C.R. Bonvicino, H. Winking, A. Hebinck, J. Blanco, A. Eggen, A. Wandall, C. Knorr, C. Szpirer, H. Zürcher, F. Hildebrandt, C.G. Ziegler, Y. Takagaki, J. Koch, P. Laurent, P. Burfeind, H. Yasue, P. Moore, M. Yerle, G. Hauke, Y. Muneta, P. Zaragoza, F. Laccone
Publikováno v: Cytogenetic and Genome Research. 97:281-283
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::09d9aaf56d596b52987a21cccd03e2fe
https://doi.org/10.1159/000067876
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4
Molecular genetics of H
Autor: R, Oriol, J J, Candelier, R, Mollicone
Publikováno v: Vox sanguinis. 78
Formal genetics of ABO, H-h and Se-se systems illustrate that these three systems are genetically independentPopulation analysis of phenotypes and family segregation of the ABH related genetic markersInactivating mutations of FUT1 and FUT2 are compat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fceec86a92efd5235c86daf562016524
https://pubmed.ncbi.nlm.nih.gov/10938937
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5
Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles
Autor: A, Elmgren, C, Börjeson, R, Mollicone, R, Oriol, A, Fletcher, G, Larson
Publikováno v: Human mutation. 16(6)
One Indonesian individual without detectable plasma alpha3-fucosyltransferase activity was identified with three point mutations, 730CG (L244V), 907CG (R303G), and 370CT (P124S), in the coding region of one FUT6 allele. Another individual, expressing
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c867b5100e08d2132b788ec026395d3d
https://pubmed.ncbi.nlm.nih.gov/11102976
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6
A single amino acid in the hypervariable stem domain of vertebrate alpha1,3/1,4-fucosyltransferases determines the type 1/type 2 transfer. Characterization of acceptor substrate specificity of the lewis enzyme by site-directed mutagenesis
Autor: F, Dupuy, J M, Petit, R, Mollicone, R, Oriol, R, Julien, A, Maftah
Publikováno v: The Journal of biological chemistry. 274(18)
Alignment of 15 vertebrate alpha1,3-fucosyltransferases revealed one arginine conserved in all the enzymes employing exclusively type 2 acceptor substrates. At the equivalent position, a tryptophan was found in FUT3-encoded Lewis alpha1,3/1,4-fucosyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::648b660b6f8e4af0948a7717a3e44115
https://pubmed.ncbi.nlm.nih.gov/10212193
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7
Advances in molecular genetics of alpha-2- and alpha-3/4-fucosyltransferases
Autor: M, Costache, A, Cailleau, P, Fernandez-Mateos, R, Oriol, R, Mollicone
Publikováno v: Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine. 4(4)
Fucosyltransferases are involved in the last steps of the biosynthesis of ABH and Lewis oligosaccharide antigens. Seven human genes (FUT1 to FUT7) and one pseudogene (Sec 1) have been cloned and localized on different chromosomes (9q34.3; 11q21; 19p1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bc7a9a3d7cb26a2d1b4ea4f0b5570d68
https://pubmed.ncbi.nlm.nih.gov/9269717
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8
A missense mutation in the FUT6 gene results in total absence of alpha3-fucosylation of human alpha1-acid glycoprotein
Autor: E C, Brinkman-Van der Linden, R, Mollicone, R, Oriol, G, Larson, D H, Van den Eijnden, W, Van Dijk
Publikováno v: The Journal of biological chemistry. 271(24)
The major alpha3-fucosyltransferase activity in human plasma is encoded by the gene for fucosyltransferase VI (FUT6). A missense mutation (Gly-739 --Ala) in this gene is responsible for deficiency of enzyme activity in plasma. To examine whether this
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::54f7cf59b5ee97e449bda12a66b8b486
https://pubmed.ncbi.nlm.nih.gov/8662894
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9
Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees
Autor: R, Mollicone, I, Reguigne, R J, Kelly, A, Fletcher, J, Watt, S, Chatfield, A, Aziz, H S, Cameron, B W, Weston, J B, Lowe
Publikováno v: The Journal of biological chemistry. 269(33)
The Le(a) and Le(b) human blood group antigens are synthesized in tissues producing exocrine secretions; they also circulate in plasma, where they are adsorbed by erythrocytes. They are synthesized by two fucosyltransferases, encoded by Lewis (FUT3)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b4a256583437e30c7cc51de95e8c1859
https://pubmed.ncbi.nlm.nih.gov/8063716
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10
Molecular basis for plasma alpha(1,3)-fucosyltransferase gene deficiency (FUT6)
Autor: R, Mollicone, I, Reguigne, A, Fletcher, A, Aziz, M, Rustam, B W, Weston, R J, Kelly, J B, Lowe, R, Oriol
Publikováno v: The Journal of biological chemistry. 269(17)
While most humans express an alpha(1,3)-fucosyltransferase in plasma, 9% of individuals on the isle of Java (Indonesia) do not express this enzyme. Ninety-five percent of these plasma alpha(1,3)-fucosyltransferase-deficient individuals have Lewis neg
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::879ce04ef7199a5174dbd1d68366fe9f
https://pubmed.ncbi.nlm.nih.gov/8175676
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