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Year Number of Results
2015 1
2016 1
2017 2
2019 4
2020 4
2022 2
2023 1
2024 1

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14 results

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Page 1
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: bottier m. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Axonemal structures reveal mechanoregulatory and disease mechanisms.
Walton T, Gui M, Velkova S, Fassad MR, Hirst RA, Haarman E, O'Callaghan C, Bottier M, Burgoyne T, Mitchison HM, Brown A. Walton T, et al. Among authors: bottier m. Nature. 2023 Jun;618(7965):625-633. doi: 10.1038/s41586-023-06140-2. Epub 2023 May 31. Nature. 2023. PMID: 37258679 Free PMC article.
Methods for the assessment of human airway ciliary function.
Jackson CL, Bottier M. Jackson CL, et al. Among authors: bottier m. Eur Respir J. 2022 Jul 28;60(1):2102300. doi: 10.1183/13993003.02300-2021. Print 2022 Jul. Eur Respir J. 2022. PMID: 35595315 Free article. No abstract available.
Endotyping Chronic Obstructive Pulmonary Disease, Bronchiectasis, and the "Chronic Obstructive Pulmonary Disease-Bronchiectasis Association".
Huang JT, Cant E, Keir HR, Barton AK, Kuzmanova E, Shuttleworth M, Pollock J, Finch S, Polverino E, Bottier M, Dicker AJ, Shoemark A, Chalmers JD. Huang JT, et al. Among authors: bottier m. Am J Respir Crit Care Med. 2022 Aug 15;206(4):417-426. doi: 10.1164/rccm.202108-1943OC. Am J Respir Crit Care Med. 2022. PMID: 35436182
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Bustamante-Marin XM, et al. Among authors: bottier m. PLoS Genet. 2020 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691. eCollection 2020 Aug. PLoS Genet. 2020. PMID: 32764743 Free PMC article.
Severe Ciliary Dyskinesia in Ventilated Patients: A Pilot Study.
Rosman J, Contou D, Tran Van Nhieu J, Renaud M, Bottier M, Maitre B, Louis B, Mekontso Dessap A. Rosman J, et al. Among authors: bottier m. Am J Respir Crit Care Med. 2020 Apr 1;201(7):867-869. doi: 10.1164/rccm.201912-2440LE. Am J Respir Crit Care Med. 2020. PMID: 32023425 No abstract available.
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B. Blanchon S, et al. Among authors: bottier m. J Med Genet. 2020 Apr;57(4):237-244. doi: 10.1136/jmedgenet-2019-106424. Epub 2019 Nov 26. J Med Genet. 2020. PMID: 31772028
14 results