Goodship JA - Search Results

1

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.

Pan-Hammarström Q, Lähdesmäki A, Zhao Y, Du L, Zhao Z, Wen S, Ruiz-Perez VL, Dunn-Walters DK, Goodship JA, Hammarström L. Pan-Hammarström Q, et al. Among authors: goodship ja. J Exp Med. 2006 Jan 23;203(1):99-110. doi: 10.1084/jem.20050595. Epub 2006 Jan 3. J Exp Med. 2006. PMID: 16390936 Free PMC article.

2

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. O'Driscoll M, et al. Among authors: goodship ja. Nat Genet. 2003 Apr;33(4):497-501. doi: 10.1038/ng1129. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640452

3

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez VL, Goodship JA. Ruiz-Perez VL, et al. Among authors: goodship ja. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876929 Review.

4

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

5

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

Tompson SW, Ruiz-Perez VL, Wright MJ, Goodship JA. Tompson SW, et al. Among authors: goodship ja. J Med Genet. 2001 Jun;38(6):E18. doi: 10.1136/jmg.38.6.e18. J Med Genet. 2001. PMID: 11389165 Free PMC article. No abstract available.

6

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 Free article.

7

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.

8

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.

Pacheco M, Valencia M, Caparrós-Martín JA, Mulero F, Goodship JA, Ruiz-Perez VL. Pacheco M, et al. Among authors: goodship ja. Bone. 2012 Jan;50(1):28-41. doi: 10.1016/j.bone.2011.08.025. Epub 2011 Aug 31. Bone. 2012. PMID: 21911092

9

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.

Caparrós-Martín JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL. Caparrós-Martín JA, et al. Among authors: goodship ja. Hum Mol Genet. 2013 Jan 1;22(1):124-39. doi: 10.1093/hmg/dds409. Epub 2012 Oct 1. Hum Mol Genet. 2013. PMID: 23026747

10

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Ruiz-Perez VL, et al. Among authors: goodship ja. Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4. Am J Hum Genet. 2003. PMID: 12571802 Free PMC article.

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