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ZMYND10 functions in a chaperone relay during axonemal dynein assembly.
Mali GR, Yeyati PL, Mizuno S, Dodd DO, Tennant PA, Keighren MA, Zur Lage P, Shoemark A, Garcia-Munoz A, Shimada A, Takeda H, Edlich F, Takahashi S, von Kreigsheim A, Jarman AP, Mill P. Mali GR, et al. Among authors: shoemark a. Elife. 2018 Jun 19;7:e34389. doi: 10.7554/eLife.34389. Elife. 2018. PMID: 29916806 Free PMC article.
Transforming clinical research and science in bronchiectasis: EMBARC3, a European Respiratory Society Clinical Research Collaboration.
Chalmers JD, Aliberti S, Altenburg J, Blasi F, Clarke C, Chotirmall SH, Crichton ML, Dhar R, Goeminne P, Haworth C, Loebinger MR, Lorent N, Polverino E, Ringshausen FC, Shoemark A, Shteinberg M, Sibila O, Spinou A, Welte T. Chalmers JD, et al. Among authors: shoemark a. Eur Respir J. 2023 Jun 29;61(6):2300769. doi: 10.1183/13993003.00769-2023. Print 2023 Jun. Eur Respir J. 2023. PMID: 37385653 No abstract available.
A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia.
Kos R, Goutaki M, Kobbernagel HE, Rubbo B, Shoemark A, Aliberti S, Altenburg J, Anagnostopoulou P, Athanazio RA, Beydon N, Dell SD, Emiralioglu N, Ferkol TW, Loebinger MR, Lorent N, Maître B, Marthin J, Morgan LC, Nielsen KG, Ringshausen FC, Shteinberg M, Tiddens HAWM, Maitland-Van der Zee AH, Chalmers JD, Lucas JSA, Haarman EG. Kos R, et al. Among authors: shoemark a. ERJ Open Res. 2024 Jan 8;10(1):00115-2023. doi: 10.1183/23120541.00115-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38196895 Free PMC article.
Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC).
Aliberti S, Ringshausen FC, Dhar R, Haworth CS, Loebinger MR, Dimakou K, Crichton ML, De Soyza A, Vendrell M, Burgel PR, McDonnell M, Skrgat S, Maiz Carro L, de Roux A, Sibila O, Bossios A, van der Eerden M, Kauppi P, Wilson R, Milenkovic B, Menendez R, Murris M, Borekci S, Munteanu O, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Goeminne PC, Elborn JS, Hill AT, Welte T, Blasi F, Polverino E, Chalmers JD; EMBARC Registry Investigators. Aliberti S, et al. Among authors: shoemark a. Eur Respir J. 2024 Apr 18;63(4):2301554. doi: 10.1183/13993003.01554-2023. Print 2024 Apr. Eur Respir J. 2024. PMID: 38609095 Free PMC article.
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Moore DJ, et al. Among authors: shoemark a. Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891471 Free PMC article.
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P. Diggle CP, et al. Among authors: shoemark a. PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25232951 Free PMC article.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: shoemark a. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: shoemark a. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA, de Proce SM, Campos JL, Meynert A, Halachev M, Marsh JA, Hirst RA, O'Callaghan C, Shoemark A, Toddie-Moore D; Scottish Genomes Partnership; Santoyo-Lopez J, Murray J, Macleod K, Urquhart DS, Unger S, Aitman TJ, Mill P. Black HA, et al. Among authors: shoemark a. Pediatr Pulmonol. 2024 Aug 8. doi: 10.1002/ppul.27200. Online ahead of print. Pediatr Pulmonol. 2024. PMID: 39115449
115 results