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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Dougherty GW, et al. Among authors: sears pr. Am J Respir Crit Care Med. 2024 Apr 16. doi: 10.1164/rccm.202308-1370OC. Online ahead of print. Am J Respir Crit Care Med. 2024. PMID: 38626355
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Knowles MR, et al. Among authors: sears pr. Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. Am J Respir Crit Care Med. 2014. PMID: 24568568 Free PMC article.
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.
Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. Chivukula RR, et al. Among authors: sears pr. Nat Med. 2020 Feb;26(2):244-251. doi: 10.1038/s41591-019-0730-x. Epub 2020 Jan 20. Nat Med. 2020. PMID: 31959991 Free PMC article.
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: sears pr. 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.
Structural insights into the cause of human RSPH4A primary ciliary dyskinesia.
Zhao Y, Pinskey J, Lin J, Yin W, Sears PR, Daniels LA, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Zhao Y, et al. Among authors: sears pr. Mol Biol Cell. 2021 Jun 1;32(12):1202-1209. doi: 10.1091/mbc.E20-12-0806. Epub 2021 Apr 14. Mol Biol Cell. 2021. PMID: 33852348 Free PMC article.
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