Ellis JA - Search Results

1

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick-Jones J, Ellis JA. Yates JR, et al. Among authors: ellis ja. Neuromuscul Disord. 1999 May;9(3):159-65. Neuromuscul Disord. 1999. PMID: 10382909

2

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.

Ellis JA, Craxton M, Yates JR, Kendrick-Jones J. Ellis JA, et al. J Cell Sci. 1998 Mar;111 ( Pt 6):781-92. doi: 10.1242/jcs.111.6.781. J Cell Sci. 1998. PMID: 9472006

3

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Ellis JA, et al. Hum Genet. 1999 Mar;104(3):262-8. doi: 10.1007/s004390050946. Hum Genet. 1999. PMID: 10323252

4

The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.

Fairley EA, Kendrick-Jones J, Ellis JA. Fairley EA, et al. Among authors: ellis ja. J Cell Sci. 1999 Aug;112 ( Pt 15):2571-82. doi: 10.1242/jcs.112.15.2571. J Cell Sci. 1999. PMID: 10393813

5

Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression.

Ellis JA, Brown CA, Tilley LD, Kendrick-Jones J, Spence JE, Yates JR. Ellis JA, et al. Neuromuscul Disord. 2000 Jan;10(1):24-30. doi: 10.1016/s0960-8966(99)00059-0. Neuromuscul Disord. 2000. PMID: 10677860

6

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype.

Fairley EA, Riddell A, Ellis JA, Kendrick-Jones J. Fairley EA, et al. Among authors: ellis ja. J Cell Sci. 2002 Jan 15;115(Pt 2):341-54. doi: 10.1242/jcs.115.2.341. J Cell Sci. 2002. PMID: 11839786

7

The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.

Roberts RC, Sutherland-Smith AJ, Wheeler MA, Jensen ON, Emerson LJ, Spiliotis II, Tate CG, Kendrick-Jones J, Ellis JA. Roberts RC, et al. Among authors: ellis ja. FEBS J. 2006 Oct;273(19):4562-75. doi: 10.1111/j.1742-4658.2006.05464.x. FEBS J. 2006. PMID: 16972941 Free article.

8

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D. Grayson C, et al. Among authors: ellis ja. Hum Mol Genet. 2000 Jul 22;9(12):1873-9. doi: 10.1093/hmg/9.12.1873. Hum Mol Genet. 2000. PMID: 10915776

9

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM. Zhang Q, et al. Among authors: ellis ja. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. doi: 10.1093/hmg/ddm238. Epub 2007 Aug 29. Hum Mol Genet. 2007. PMID: 17761684

10

81st Enmc international workshop: 4th meeting on emery-dreifuss muscular dystrophy 7th and 8th July 2000, naarden, The Netherlands.

Ellis JA. Ellis JA. Neuromuscul Disord. 2001 May;11(4):417-20. doi: 10.1016/s0960-8966(00)00220-0. Neuromuscul Disord. 2001. PMID: 11369196 No abstract available.

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