Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Maja Bucan"'
Autor:
Sara Mathieson, Yuval B. Simons, Shweta Ramdas, Rachel L. Kember, Michael Kourakos, Kelly Finke, Gabriela Brown, Alejandro A. Schäffer, Shi Jie Samuel Tan, Huyen Trang Dang, Maja Bucan
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 2, p e1008638 (2021)
PLoS Computational Biology
PLoS Computational Biology
In this work we develop a novel algorithm for reconstructing the genomes of ancestral individuals, given genotype or sequence data from contemporary individuals and an extended pedigree of family relationships. A pedigree with complete genomes for ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d089b874a8ba52afbbf02dfba5885e9
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
Publikováno v:
The Journal of Neuroscience. 31:3580-3588
Rab3A is a small GTPase associated with synaptic vesicles that is required for some forms of activity-dependent plasticity. It is thought to regulate the number of vesicles that fuse through an effect on docking, vesicle maturation, or mobilization.
Autor:
Takashi Arai, Eiki Takahashi, Toru Takumi, Maja Bucan, Jun Nomura, Moe Nakanishi, Xiao Ji, Kota Tamada
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 13, Iss 10, p e1007035 (2017)
PLoS Genetics, Vol 13, Iss 10, p e1007035 (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:
Behavioural Brain Research. 195:246-250
The dopamine D2 receptor (D2R) system has been implicated in emotional processing which is often impaired in neuropsychiatric disorders. The long (D2L) and the short (D2S) isoforms of D2R are generated by alternative splicing of the same gene. To stu
Publikováno v:
Molecular Psychiatry. 7:1075-1082
Regulation of dopamine D2 receptor (D2) function plays an important role in alleviating either the motor deficits of Parkinson's disease or psychotic symptoms of schizophrenia. D2 also plays a critical role in sensorimotor gating which can be measure
Autor:
Vargheese M. Chennathukuzhi, Peter McNamara, E. Joan Blanchette-Mackie, Jerome F. Strauss, Rossana Sapiro, Mei Zhang, Anne Marie Curtis, Jeff Bray, Zhibing Zhang, Maja Bucan, David Kapfhamer
Publikováno v:
Molecular and Cellular Biology. 22:7993-8004
cDNAs were cloned for the murine and human orthologues of Chlamydomonas PF20, a component of the alga axoneme central apparatus that is required for flagellar motility. The mammalian genes encode transcripts of 1.4 and 2.5 kb that are highly expresse
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