X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Autor: Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly o

Externí odkaz: https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e

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/

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Autor: Peter Nürnberg, Kim G. Nielsen, Nora F. Banki, Gudrun Nürnberg, Hannah M. Mitchison, Richard Reinhardt, Eddie M. K. Chung, Johanna Raidt, Thomas Burgoyne, Josef Schroeder, Niki T. Loges, Heike Olbrich, Gabriele Köhler, Heymut Omran, June K. Marthin, Amelia Shoemark, Matthew E. Hurles, Saeed Al Turki, Claudius Werner, Miriam Schmidts, Alexandros Onoufriadis

Publikováno v: The American Journal of Human Genetics. 91(4):672-684

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder characterized by defective cilia and flagella motility. Chronic destructive-airway disease is caused by abnormal respiratory-tract mucociliary clearance. Abnormal prop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f43faae0e7497e73024a591e5583c4e5

Competency domains in an undergraduate Objective Structured Clinical Examination: their impact on compensatory standard setting

Autor: Sian Williams, Ashley Reece, Eddie M. K. Chung, R. Mark Gardiner

Publikováno v: Medical Education. 42:600-606

Context Following a 15-week attachment in paediatrics and child health, general practice and dermatology medical students in their second clinical year at this medical school undertake a high-stakes assessment including an objective structured clinic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::48e6f4bd7ad401530871d553a83c1db7
https://doi.org/10.1111/j.1365-2923.2008.03021.x

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

Autor: L. Van Maldergem, Lucia Bartoloni, M Meeks, C Gehring, b afzelius, A O'Rawe, RM Gardiner, A Walne, Mark Jorissen, Stylianos E. Antonarakis, Jean-Louis Blouin, Genevieve Duriaux Sail, DV Schidlow, H Walt, C. D. DeLozier-Blanchet, Uppala Radhakrishna, Amanda Sainsbury, Dombi, Eddie M. K. Chung, Miguel Armengot, D Probst, P A Guerne

Publikováno v: European Journal of Human Genetics, Vol. 8, No 2 (2000) pp. 109-118

Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf4bc9d1aa841e47683dbdcb73f4840
https://doi.org/10.1038/sj.ejhg.5200429