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Your search keyword '"Loris Bernard"' showing total 2 results
Start Over Author "Loris Bernard" Journal human molecular genetics
2 results on '"Loris Bernard"'

1. The role of genetic breast cancer susceptibility variants as prognostic factors

Author

Fasching, Peter A., Pharoah, Paul D.P., Cox, Angela, Nevanlinna, Heli, Bojesen, Stig E., Karn, Thomas, Broeks, Annegien, van Leeuwen, Flora E., van ʼt Veer, Laura J., Udo, Renate, Dunning, Alison M., Greco, Dario, Aittomäki, Kristiina, Blomqvist, Carl, Shah, Mitul, Nordestgaard, Børge G., Flyger, Henrik, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Garcia-Closas, Montserrat, Sherman, Mark, Lissowska, Jolanta, Seynaeve, Caroline, Huijts, Petra E.A., Tollenaar, Rob A.E.M., Ziogas, Argyrios, Ekici, Arif B., Rauh, Claudia, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Andrulis, Irene L., Ozcelik, Hilmi, Mulligan, Anna-Marie, Glendon, Gord, Hall, Per, Czene, Kamila, Liu, Jianjun, Chang-Claude, Jenny, Wang-Gohrke, Shan, Eilber, Ursula, Nickels, Stefan, Dörk, Thilo, Schiekel, Maria, Bremer, Michael, Park-Simon, Tjoung-Won, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Hooning, Maartje J., Martens, John W.M., Jager, Agnes, Kriege, Mieke, Lindblom, Annika, Margolin, Sara, Couch, Fergus J., Stevens, Kristen N., Olson, Janet E., Kosel, Matthew, Cross, Simon S., Balasubramanian, Sabapathy P., Reed, Malcolm W.R., Miron, Alexander, John, Esther M., Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Chenevix-Trench, Georgia, Lambrechts, Diether, Dieudonne, Anne-Sophie, Hatse, Sigrid, van Limbergen, Erik, Benitez, Javier, Milne, Roger L., Zamora, M. Pilar, Pérez, José Ignacio Arias, Bonanni, Bernardo, Peissel, Bernard, Loris, Bernard, Peterlongo, Paolo, Rajaraman, Preetha, Schonfeld, Sara J., Anton-Culver, Hoda, Devilee, Peter, Beckmann, Matthias W., Slamon, Dennis J., Phillips, Kelly-Anne, Figueroa, Jonine D., Humphreys, Manjeet K., Easton, Douglas F., and Schmidt, Marjanka K.

Published
2012
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2. EYA4, a novel vertebrate gene related to Drosophila eyes absent

Author

Kay Metcalfe, Alison Brown, Veronica van Heyningen, Robin M. Winter, Alessandro Bulfone, Marie Robertson, Alessandro DeGrandi, Sandro Banfi, Dian Donnai, Andrea Ballabio, Giuseppe Borsani, Isabel M. Hanson, Loris Bernard, Claudio Gattuso, Richard Axton, Margherita Mariani, Michael J. Dixon, Borsani, G, Degrandi, A, Ballabio, A, Bulfone, A, Bernard, L, Banfi, Sandro, Gattuso, C, Mariani, M, Dixon, M, Donnai, D, Metcalfe, K, Winter, R, Robertson, M, Axton, R, Brown, A, van Heyningen, V, and Hanson, I.

Subjects
DNA, Complementary, Molecular Sequence Data, Sequence Homology, Genes, Insect, Biology, Eye, Homology (biology), Mice, Species Specificity, Gene mapping, Complementary, Centromere, Gene expression, Genetics, Animals, Humans, Drosophila Proteins, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Molecular Biology, Gene, Peptide sequence, In Situ Hybridization, Genetics (clinical), Sequence Homology, Amino Acid, Base Sequence, Alternative splicing, Alternative Splicing, Chromosome Mapping, Drosophila, Mutation, Trans-Activators, DNA, General Medicine, Amino Acid, Genes, Insect, Drosophila Protein
Abstract

We have isolated a family of four vertebrate genes homologous to eyes absent (eya), a key regulator of ocular development in Drosophila. Here we present the detailed characterization of the EYA4 gene in human and mouse. EYA4 encodes a 640 amino acid protein containing a highly conserved C-terminal domain of 271 amino acids which in Drosophila eya is known to mediate developmentally important protein-protein interactions. Human EYA4 maps to 6q23 and mouse Eya4 maps to the predicted homology region near the centromere of chromosome 10. In the developing mouse embryo, Eya4 is expressed primarily in the craniofacial mesenchyme, the dermamyotome and the limb. On the basis of map position and expression pattern, EYA4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients.

Published
1999

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