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Zebrafish Motile Cilia as a Model for Primary Ciliary Dyskinesia.
Pinto AL, Rasteiro M, Bota C, Pestana S, Sampaio P, Hogg C, Burgoyne T, Lopes SS. Pinto AL, et al. Among authors: burgoyne t. Int J Mol Sci. 2021 Aug 4;22(16):8361. doi: 10.3390/ijms22168361. Int J Mol Sci. 2021. PMID: 34445067 Free PMC article.
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K; Bouvagnet P, Mitchison HM. Onoufriadis A, et al. Among authors: burgoyne t. Hum Mol Genet. 2014 Jul 1;23(13):3362-74. doi: 10.1093/hmg/ddu046. Epub 2014 Feb 11. Hum Mol Genet. 2014. PMID: 24518672 Free PMC article.
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Shoemark A, Burgoyne T, Kwan R, Dixon M, Patel MP, Rogers AV, Onoufriadis A, Scully J, Daudvohra F, Cullup T, Loebinger MR, Wilson R, Chung EMK, Bush A, Mitchison HM, Hogg C. Shoemark A, et al. Among authors: burgoyne t. Eur Respir J. 2018 Feb 21;51(2):1701809. doi: 10.1183/13993003.01809-2017. Print 2018 Feb. Eur Respir J. 2018. PMID: 29467202 Free article.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM. Fassad MR, et al. Among authors: burgoyne t. Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471717 Free PMC article.
PCD Detect: enhancing ciliary features through image averaging and classification.
Shoemark A, Pinto AL, Patel MP, Daudvohra F, Hogg C, Mitchison HM, Burgoyne T. Shoemark A, et al. Among authors: burgoyne t. Am J Physiol Lung Cell Mol Physiol. 2020 Dec 1;319(6):L1048-L1060. doi: 10.1152/ajplung.00264.2020. Epub 2020 Sep 30. Am J Physiol Lung Cell Mol Physiol. 2020. PMID: 32996775 Free article.
84 results