Zobrazeno 1 - 10
of 1 025
pro vyhledávání: '"COG4"'
Autor:
Zhi-Jie Xia, Sonal Mahajan, Earnest James Paul Daniel, Bobby G. Ng, Mayank Saraswat, Alexandre Rosa Campos, Rabi Murad, Miao He, Hudson H. Freeze
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Saul-Wilson syndrome is a rare skeletal dysplasia caused by a heterozygous mutation in COG4 (p.G516R). Our previous study showed that this mutation affected glycosylation of proteoglycans and disturbed chondrocyte elongation and intercalation in zebr
Externí odkaz:
https://doaj.org/article/3b864cc37ccc4109956e83f29288fb72
Akademický článek
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Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Saul–Wilson syndrome (SWS) is a rare, skeletal dysplasia with progeroid appearance and primordial dwarfism. It is caused by a heterozygous, dominant variant (p.G516R) in COG4, a subunit of the conserved oligomeric Golgi (COG) complex involved in in
Externí odkaz:
https://doaj.org/article/3dbcf0cc5b034172a8a424e5a97cb95c
Publikováno v:
In Mechanisms of Development February 2019 155:1-7
Autor:
Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., III, Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Publikováno v:
In The American Journal of Human Genetics 4 October 2018 103(4):553-567
Akademický článek
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Autor:
Richardson, Brian C., Smith, Richard D., Ungar, Daniel, Nakamura, Ayumi, Jeffrey, Philip D., Lupashin, Vladimir V., Hughson, Frederick M., Munro, Sean
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2009 Aug 01. 106(32), 13329-13334.
Externí odkaz:
https://www.jstor.org/stable/40485366
Publikováno v:
Mechanisms of Development. 155:1-7
The semicircular canals in the inner ear sense angular acceleration. In zebrafish, the semicircular canals develop from epithelial projections that grow toward each other and fuse to form pillars. The growth of the epithelial projections is driven by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f91e40a065d3c3e4c2ac98698e4f287
https://doi.org/10.1016/j.mod.2018.09.003
https://doi.org/10.1016/j.mod.2018.09.003
Saul-Wilson syndrome (SWS) is a rare, skeletal dysplasia with progeroid appearance and primordial dwarfism. It is caused by a heterozygous, dominant variant (p.G516R) in COG4, a subunit of the Conserved Oligomeric Golgi (COG) complex involved in intr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35b77dfe017018ff6f6fb97a108651af
https://doi.org/10.1101/2021.05.23.443307
https://doi.org/10.1101/2021.05.23.443307
Autor:
Gen Nishimura, Tito Onyekweli, David A. Parry, Bernardo Blanco-Sánchez, Dawn L. Earl, Ganka Douglas, Clare V. Logan, Carlos Ferreira, Bobby G. Ng, Jeremy Wegner, Marte Gjøl Haug, Zöe Powis, Benjamin D. Solomon, Megan T. Cho, Ellen Macnamara, Lynne A. Wolfe, Ann Nordgren, Anna Hammarsjö, Melissa Gabriel, Zhi-Jie Xia, Angela L. Duker, Fulya Taylan, Kelly Radtke, Mariya Kozenko, Daniel R. Carvalho, Prashant Sharma, Hudson H. Freeze, Monte Westerfield, Kazuhiro Aoki, Michael B. Bober, Luis Rohena, Alvaro H Serrano Russi, Jennifer B. Phillips, Coleman T. Turgeon, Aurélie Clément, Giedre Grigelioniene, Tara E. Weixel, John A. Phillips, Rizwan Hamid, May Christine V. Malicdan, David H. Adams, George E. Tiller, Mariska Davids, Cynthia J. Tifft, Kimiyo Raymond, Andrew P. Jackson, Emma Tham, Hanne B Hove, Lauren Brick, Jakob Ek, Heiko Bratke, William G. Wilson, Michael Tiemeyer, William A. Gahl
Publikováno v:
2018, ' A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation ', American Journal of Human Genetics, vol. 103, no. 4, pp. 553-567 . https://doi.org/10.1016/j.ajhg.2018.09.003
The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and lobe B (COG5-8). We describe fourteen individuals with Saul-Wilson syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d721b72718fd3c2ac578bb583e21db4b
https://doi.org/10.1016/j.ajhg.2018.09.003
https://doi.org/10.1016/j.ajhg.2018.09.003