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PubMed (GeneRIF) for id: 345895
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The RSPH4A Gene in Primary Ciliary Dyskinesia.
Int J Mol Sci. 2023 Jan 18;24(3):1936. doi: 10.3390/ijms24031936.
Int J Mol Sci. 2023.
PMID: 36768259
Free PMC article.
Review.
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.
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.
Item in Clipboard
A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.
Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K.
Takeuchi K, et al.
Auris Nasus Larynx. 2018 Jun;45(3):585-591. doi: 10.1016/j.anl.2017.09.007. Epub 2017 Sep 19.
Auris Nasus Larynx. 2018.
PMID: 28939216
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H.
Frommer A, et al.
Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC.
Am J Respir Cell Mol Biol. 2015.
PMID: 25789548
Free PMC article.
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Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA.
Daniels ML, et al.
Hum Mutat. 2013 Oct;34(10):1352-6. doi: 10.1002/humu.22371. Epub 2013 Aug 6.
Hum Mutat. 2013.
PMID: 23798057
Free PMC article.
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Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M.
Ziętkiewicz E, et al.
PLoS One. 2012;7(3):e33667. doi: 10.1371/journal.pone.0033667. Epub 2012 Mar 20.
PLoS One. 2012.
PMID: 22448264
Free PMC article.
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