Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Autor: Richard D. Emes, Petra zur Lage, Claire Hogg, Jean-Louis Blouin, Nicholas D. E. Greene, Miriam Schmidts, Dinu Antony, Jana Djakow, Federico Santoni, Stylianos E. Antonarakis, Eddie M. K. Chung, Amelia Shoemark, Alexandros Onoufriadis, Gerard Pals, Stavroula Petridi, Jeremy Bevillard, Giuseppe Gallone, Lucia Bartoloni, Michael A. Simpson, Nigel P. Mongan, Periklis Makrythanasis, Daniel J. Moore, Teresa Didonna, Hannah M. Mitchison, Andrew P. Jarman, Michel Guipponi, June K. Marthin, Wesley J. Woollard, Jane S. Lucas, Kim G. Nielsen, Sandra C. P. De Castro

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Vol. 93, No 2 (2013) pp. 346-356
American journal of human genetics, 93(2), 346-356. Cell Press
Moore, D J, Onoufriadis, A, Shoemark, A, Simpson, M A, zur Lage, P I, de Castro, S C, Bartoloni, L, Gallone, G, Petridi, S, Woollard, W J, Antony, D, Schmidts, M, Didonna, T, Makrythanasis, P, Bevillard, J, Mongan, N P, Djakow, J, Pals, G, Lucas, J S, Marthin, J K, Nielsen, K G, Santoni, F, Guipponi, M, Hogg, C, Antonarakis, S E, Emes, R D, Chung, E M K, Greene, N D E, Blouin, J L, Jarman, A P & Mitchison, H M 2013, ' Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia ', American journal of human genetics, vol. 93, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2013.07.009
Moore, D J, Onoufriadis, A, Shoemark, A, Simpson, M A, Zur Lage, P I, de Castro, S C, Bartoloni, L, Gallone, G, Petridi, S, Woollard, W J, Antony, D, Schmidts, M, Didonna, T, Makrythanasis, P, Bevillard, J, Mongan, N P, Djakow, J, Pals, G, Lucas, J S, Marthin, J K, Nielsen, K G, Santoni, F, Guipponi, M, Hogg, C, Antonarakis, S E, Emes, R D, Chung, E M K, Greene, N D E, Blouin, J-L, Jarman, A P & Mitchison, H M 2013, ' Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia ', American Journal of Human Genetics, vol. 93, no. 2, pp. 346-56 . https://doi.org/10.1016/j.ajhg.2013.07.009

Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Usi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7e2d3e66e793a6969210ac98b33aa6
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738835/