Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maja Bucan"'
Autor:
Jill A. Rosenfeld, Vijay Kumar, Alessandra Renieri, Alexandre Reymond, Charles E. Schwartz, Claire Beneteau, Emily Huber, Katrin Männik, Cédric Le Caignec, Anne Laure Mosca-Boidron, Aurora Currò, Teresa Mattina, Paolo Prontera, Corrado Romano, Damian Pazuchanics, Erik A. Sistermans, Dominique Martin-Coignard, Lucia Castiglia, Luana Mandarà, Kate Pope, Pawel Stankiewicz, Matthew Jensen, Mathilde Lefebvre, Anke Van Dijck, Laurence Faivre, Sau Wai Cheung, R. Frank Kooy, Sophie Blesson, Nathalie Marle, Marie Vincent, Bertrand Isidor, Marco Fichera, Emanuela Avola, Ornella Galesi, Joris Andrieux, Jean-Hubert Caberg, Cindy Skinner, Sandra Mercier, Małgorzata J.M. Nowaczyk, Mathilde Nizon, Susan Zeesman, David J. Amor, Els Voorhoeve, Santhosh Girirajan, Andrew Polyak, Maja Bucan, Boris Keren, Elizabeth McCready, Olivier Pichon, Francesca Mari, Ji-eun Yoon, Arjun Krishnan, Rachel L. Kember, Lucilla Pizzo, Charles Perrine, Patrick Callier
PurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7fda6e715f1090b1e75d0d7cf2b7bf
Autor:
Lars Andersen, Liping Hou, Lisa Estrella, Christopher D. Brown, Francis J. McMahon, Laura Almasy, Maja Bucan, Xiao Ji, Arpita Ghorai, Rachel L. Kember
Publikováno v:
Translational Psychiatry, Vol 8, Iss 1, Pp 1-12 (2018)
Translational Psychiatry
Translational Psychiatry
Bipolar disorder (BD) is a mental disorder characterized by alternating periods of depression and mania. Individuals with BD have higher levels of early mortality than the general population, and a substantial proportion of this may be due to increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eefe1de23e38a85f6e824eed3fa7e4f
Autor:
Xiao Ji, Jun Nomura, Toru Takumi, Eiki Takahashi, Moe Nakanishi, Kota Tamada, Maja Bucan, Takashi Arai
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 13, Iss 8, p e1006940 (2017)
PLoS Genetics, Vol 13, Iss 8, p e1006940 (2017)
Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 113(52)
Autism spectrum disorder (ASD) is a heterogeneous, highly heritable neurodevelopmental syndrome characterized by impaired social interaction, communication, and repetitive behavior. It is estimated that hundreds of genes contribute to ASD. We asked i
Autor:
Henrik Westerberg, Yann Herault, Colin McKerlie, Candice N. Baker, Dave Clary, William C. Skarnes, Hibret A. Adissu, Thomas N. Lawson, Monica J. Justice, R. Mark Henkelman, Monkol Lek, Helen Parkinson, Timothy J. Mohun, Sarah M. Edie, Paul Flicek, Francesco Chiani, Steve D.M. Brown, Martin Hrabé de Angelis, Mary E. Dolan, Chih-Wei Hsu, L. Brianna Caddle, Sara Wells, John R. Seavitt, Wolfgang Weninger, James M. Brown, Neil R. Horner, Zsombor Szoke-Kovacs, Louise Lanoue, Jacqueline K. White, Lauryl M. J. Nutter, Shiying Guo, Allan Bradley, Jonathan Warren, Ann M. Flenniken, Manuel Mark, Kevin A. Peterson, Kaitlin E. Samocha, Douglas J. Rowland, Daniel G. MacArthur, Ann-Marie Mallon, Maja Bucan, Amanda G. Trainor, Susan Newbigging, Ramiro Ramirez-Solis, Glauco P. Tocchini-Valentini, Shigeharu Wakana, Ilinca Tudose, Olivia Wendling, Edward Ryder, Lydia Teboul, Melissa L. McElwee, Kevin C K Lloyd, Terrence F. Meehan, David B. West, Stephen A. Murray, Valerie Gailus-Durner, Lance C. Keith, Mark J. Daly, Lynette Bower, Juan Gallegos, Masaru Tamura, Helmut Fuchs, Susan Marschall, Mark W. Moore, Karen L. Svenson, Sara Johnson, David J. Adams, Xiang Gao, Robert E. Braun, Mohammed Selloum, Xiao Ji, Michael D. Wong, Atsushi Yoshiki, Alessia Gambadoro, James M. Denegre, Leeyean Wong, Jeremy Mason, Antonella Galli, Sowmya Kalaga, Arthur L. Beaudet, James Cleak, Brendan Doe, Mary E. Dickinson
Publikováno v:
Nature (Lond.) 537 (2016): 508–514. doi:10.1038/nature19356
info:cnr-pdr/source/autori:Mary E. Dickinson,Ann M. Flenniken,Xiao Ji,Lydia Teboul,Michael D. Wong,Jacqueline K. White,Terrence F. Meehan,Wolfgang J. Weninger,Henrik Westerberg,Hibret Adissu, Candice N. Baker,Lynette Bower,James M. Brown,L. Brianna Caddle,Francesco Chiani, Dave Clary,James Cleak,Mark J. Daly,James M. Denegre,Brendan Doe,Mary E. Dolan, Sarah M. Edie,Helmut Fuchs,Valerie Gailus-Durner,Antonella Galli,Alessia Gambadoro, Juan Gallegos,Shiying Guo,Neil R. Horner,Chih-Wei Hsu,Sara J. Johnson,Sowmya Kalaga,Lance C. Keith,Louise Lanoue,Thomas N. Lawson,Monkol Lek,Manuel Mark, Susan Marschall,Jeremy Mason,Melissa L. McElwee,Susan Newbigging,Lauryl M. J. Nutter,Kevin A. Peterson,Ramiro Ramirez-Solis,Douglas J. Rowland,Edward Ryder, Kaitlin E. Samocha,John R. Seavitt,Mohammed Selloum,Zsombor Szoke-Kovacs,Masaru Tamura,Amanda G. Trainor,Ilinca Tudose,Shigeharu Wakana,Jonathan Warren,Olivia Wendling,David B. West,Leeyean Wong,Atsushi Yoshiki,The International Mouse Phenotyping Consortium,Daniel G. MacArthur,Glauco P. Tocchini-Valentini,Xiang Gao, Paul Flicek,Allan Bradley,William C. Skarnes,Monica J. Justice,Helen E. Parkinson,Mark Moore,Sara Wells,Robert E. Braun,Karen L. Svenson,Martin Hrabe de Angelis,Yann Herault,Tim Mohun,Ann-Marie Mallon,R. Mark Henkelman,Steve D. M. Brown,David J. Adams,K. C. Kent Lloyd,Colin McKerlie,Arthur L. Beaudet,Maja Bu?an& Stephen A. Murray/titolo:High-throughput discovery of novel developmental phenotypes./doi:10.1038%2Fnature19356/rivista:Nature (Lond.)/anno:2016/pagina_da:508/pagina_a:514/intervallo_pagine:508–514/volume:537
Nature 537, 508-514 (2016)
info:cnr-pdr/source/autori:Mary E. Dickinson,Ann M. Flenniken,Xiao Ji,Lydia Teboul,Michael D. Wong,Jacqueline K. White,Terrence F. Meehan,Wolfgang J. Weninger,Henrik Westerberg,Hibret Adissu, Candice N. Baker,Lynette Bower,James M. Brown,L. Brianna Caddle,Francesco Chiani, Dave Clary,James Cleak,Mark J. Daly,James M. Denegre,Brendan Doe,Mary E. Dolan, Sarah M. Edie,Helmut Fuchs,Valerie Gailus-Durner,Antonella Galli,Alessia Gambadoro, Juan Gallegos,Shiying Guo,Neil R. Horner,Chih-Wei Hsu,Sara J. Johnson,Sowmya Kalaga,Lance C. Keith,Louise Lanoue,Thomas N. Lawson,Monkol Lek,Manuel Mark, Susan Marschall,Jeremy Mason,Melissa L. McElwee,Susan Newbigging,Lauryl M. J. Nutter,Kevin A. Peterson,Ramiro Ramirez-Solis,Douglas J. Rowland,Edward Ryder, Kaitlin E. Samocha,John R. Seavitt,Mohammed Selloum,Zsombor Szoke-Kovacs,Masaru Tamura,Amanda G. Trainor,Ilinca Tudose,Shigeharu Wakana,Jonathan Warren,Olivia Wendling,David B. West,Leeyean Wong,Atsushi Yoshiki,The International Mouse Phenotyping Consortium,Daniel G. MacArthur,Glauco P. Tocchini-Valentini,Xiang Gao, Paul Flicek,Allan Bradley,William C. Skarnes,Monica J. Justice,Helen E. Parkinson,Mark Moore,Sara Wells,Robert E. Braun,Karen L. Svenson,Martin Hrabe de Angelis,Yann Herault,Tim Mohun,Ann-Marie Mallon,R. Mark Henkelman,Steve D. M. Brown,David J. Adams,K. C. Kent Lloyd,Colin McKerlie,Arthur L. Beaudet,Maja Bu?an& Stephen A. Murray/titolo:High-throughput discovery of novel developmental phenotypes./doi:10.1038%2Fnature19356/rivista:Nature (Lond.)/anno:2016/pagina_da:508/pagina_a:514/intervallo_pagine:508–514/volume:537
Nature 537, 508-514 (2016)
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenoty
Autor:
Maja Bucan, David Kapfhamer, Steven E. Arnold, Sigrid C. Veasey, Yi Sun, Patrick M. Nolan, John J. Rux, Otto Valladares
Publikováno v:
Nature Genetics. 32:290-295
Rab3a is the most abundant Rab (ras-associated binding) protein in the brain and has a regulatory role in synaptic vesicle trafficking. Mice with a targeted loss-of-function mutation in Rab3a have defects in Ca(2+)-dependent synaptic transmission: th
Autor:
Lisa M. Tarantino, Jane P. Kenney, Belen Hurle, David M. Ornitz, Bernard H. Brownstein, Maja Bucan, Keara Michelle Lane
Publikováno v:
Genomics. 77:189-199
The tilted (tlt) mouse carries a recessive mutation causing vestibular dysfunction. The defect in tlt homozygous mice is limited to the utricle and saccule of the inner ear, which completely lack otoconia. Genetic mapping of tlt placed it in a region
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 23(9-10)
Autor:
D. Miller, Deborah L. Nagle, K.-H. Lee, C.-H. Yen, Verne M. Chapman, A. Morrow, Dennis A. Stephenson, Maja Bucan
Publikováno v:
Mammalian Genome. 5:342-348
The rump-white (Rw) mutation in the mouse was previously mapped as part of a cluster of spotting genes on Chromosome (Chr) 5 that includes the dominant spotting (W) and patch (Ph) loci. Recent studies have shown that the W locus encodes the KIT tyros
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 18(5)
No turning (nt), a recessive lethal mutation causing left-right and axial patterning defects, was recovered in outbred CD-1 mice. Homozygous mutant embryos die at E11.5, exhibiting randomized heart tube looping and a failure to undergo embryonic turn