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115 results

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Page 1
Mutation mapping and identification by whole-genome sequencing.
Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Leshchiner I, et al. Among authors: drummond ia. Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3. Genome Res. 2012. PMID: 22555591 Free PMC article.
Zebrafish slc4a2/ae2 anion exchanger: cDNA cloning, mapping, functional characterization, and localization.
Shmukler BE, Kurschat CE, Ackermann GE, Jiang L, Zhou Y, Barut B, Stuart-Tilley AK, Zhao J, Zon LI, Drummond IA, Vandorpe DH, Paw BH, Alper SL. Shmukler BE, et al. Among authors: drummond ia. Am J Physiol Renal Physiol. 2005 Oct;289(4):F835-49. doi: 10.1152/ajprenal.00122.2005. Epub 2005 May 24. Am J Physiol Renal Physiol. 2005. PMID: 15914778 Free article.
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA. Panizzi JR, et al. Among authors: drummond ia. Nat Genet. 2012 May 13;44(6):714-9. doi: 10.1038/ng.2277. Nat Genet. 2012. PMID: 22581229 Free PMC article.
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR. Manning DK, et al. J Am Soc Nephrol. 2013 Jan;24(1):100-12. doi: 10.1681/ASN.2012050490. J Am Soc Nephrol. 2013. PMID: 23274954 Free PMC article.
Zebrafish cilia.
Drummond I, Austin-Tse C. Drummond I, et al. Methods Enzymol. 2013;525:219-44. doi: 10.1016/B978-0-12-397944-5.00011-0. Methods Enzymol. 2013. PMID: 23522472
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F. Austin-Tse C, et al. Among authors: drummond ia. Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015. Am J Hum Genet. 2013. PMID: 24094744 Free PMC article.
115 results