Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation

Autor: Janzen, Mikyla L., Cheung, Christopher, Sanatani, Shubhayan, Cunningham, Taylor, Kerr, Charles, Steinberg, Christian, Sherwin, Elizabeth, Arbour, Laura, Deyell, Marc W., Andrade, Jason G., Lehman, Anna M., Gula, Lorne J., Krahn, Andrew D.

Publikováno v: In Canadian Journal of Cardiology June 2017 33(6):814-821

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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Autor: Halbritter, Jan, Bizet, Albane A, Schmidts, Miriam, Porath, Jonathan D, Braun, Daniela A, Gee, Heon Yung, McInerney-Leo, Aideen M, Krug, Pauline, Filhol, Emilie, Davis, Erica E, Airik, Rannar, Czarnecki, Peter G, Lehman, Anna M, Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J, Tory, Kálmán, Leo, Paul J, Gardiner, Brooke, McKenzie, Fiona A, Zankl, Andreas, Brown, Matthew A, Hartley, Jane L, Maher, Eamonn R, Li, Chunmei, Leroux, Michel R, Scambler, Peter J, Zhan, Shing H, Jones, Steven J, Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N, Constantinescu, Alexandru, Krantz, Ian D, Kaplan, Bernard S, Shah, Jagesh V, Hurd, Toby W, Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L, Otto, Edgar A, Beales, Philip L, Mitchison, Hannah M, Saunier, Sophie, Hildebrandt, Friedhelm

Publikováno v: Halbritter, J, Bizet, A A, Schmidts, M, Porath, J D, Braun, D A, Gee, H Y, McInerney-Leo, A M, Krug, P, Filhol, E, Davis, E E, Airik, R, Czarnecki, P G, Lehman, A M, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, A J, Tory, K, Leo, P J, Gardiner, B, McKenzie, F A, Zankl, A, Brown, M A, Hartley, J L, Maher, E R, Li, C, Leroux, M R, Scambler, P J, Zhan, S H, Jones, S J, Kayserili, H, Tuysuz, B, Moorani, K N, Constantinescu, A, Krantz, I D, Kaplan, B S, Shah, J V, Hurd, T W, Doherty, D, Katsanis, N, Duncan, E L, Otto, E A, Beales, P L, Mitchison, H M & Saunier, S & Hildebrandt, F 2013, ' Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans ', American Journal of Human Genetics, vol. 93, no. 5, pp. 915-25 . https://doi.org/10.1016/j.ajhg.2013.09.012

Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::51d35ce878444a0e862517bb12088440
https://europepmc.org/articles/PMC3824130/

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