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Cilia and disease.
Eley L, Yates LM, Goodship JA. Eley L, et al. Among authors: goodship ja. Curr Opin Genet Dev. 2005 Jun;15(3):308-14. doi: 10.1016/j.gde.2005.04.008. Curr Opin Genet Dev. 2005. PMID: 15917207 Review.
Defects in the determination of left-right asymmetry.
Splitt MP, Burn J, Goodship J. Splitt MP, et al. J Med Genet. 1996 Jun;33(6):498-503. doi: 10.1136/jmg.33.6.498. J Med Genet. 1996. PMID: 8782051 Free PMC article. Review. No abstract available.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: goodship ja. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Otto EA, et al. Among authors: goodship ja. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA. Tompson SW, et al. Among authors: goodship ja. Hum Genet. 2007 Jan;120(5):663-70. doi: 10.1007/s00439-006-0237-7. Epub 2006 Sep 21. Hum Genet. 2007. PMID: 17024374
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.
Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA. Ruiz-Perez VL, et al. Among authors: goodship ja. Development. 2007 Aug;134(16):2903-12. doi: 10.1242/dev.007542. Development. 2007. PMID: 17660199
A perspective on inversin.
Eley L, Turnpenny L, Yates LM, Craighead AS, Morgan D, Whistler C, Goodship JA, Strachan T. Eley L, et al. Among authors: goodship ja. Cell Biol Int. 2004;28(2):119-24. doi: 10.1016/j.cellbi.2003.11.009. Cell Biol Int. 2004. PMID: 14984757 Review.
Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA. Blair HJ, et al. Among authors: goodship ja. BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14. BMC Biol. 2011. PMID: 21356043 Free PMC article.
Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.
Morgan D, Eley L, Sayer J, Strachan T, Yates LM, Craighead AS, Goodship JA. Morgan D, et al. Among authors: goodship ja. Hum Mol Genet. 2002 Dec 15;11(26):3345-50. doi: 10.1093/hmg/11.26.3345. Hum Mol Genet. 2002. PMID: 12471060
The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura.
Richards A, Goodship JA, Goodship TH. Richards A, et al. Among authors: goodship ja, goodship th. Curr Opin Nephrol Hypertens. 2002 Jul;11(4):431-5. doi: 10.1097/00041552-200207000-00010. Curr Opin Nephrol Hypertens. 2002. PMID: 12105394 Review.
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