Strachan T - Search Results

1

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: strachan t. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.

2

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: strachan t. Hum Mol Genet. 2002 Dec 15;11(26):3345-50. doi: 10.1093/hmg/11.26.3345. Hum Mol Genet. 2002. PMID: 12471060

3

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: strachan t. Cell Biol Int. 2004;28(2):119-24. doi: 10.1016/j.cellbi.2003.11.009. Cell Biol Int. 2004. PMID: 14984757 Review.

4

The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.

Morgan D, Goodship J, Essner JJ, Vogan KJ, Turnpenny L, Yost HJ, Tabin CJ, Strachan T. Morgan D, et al. Among authors: strachan t. Hum Genet. 2002 Apr;110(4):377-84. doi: 10.1007/s00439-002-0696-4. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941489

5

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse.

Morgan D, Turnpenny L, Goodship J, Dai W, Majumder K, Matthews L, Gardner A, Schuster G, Vien L, Harrison W, Elder FF, Penman-Splitt M, Overbeek P, Strachan T. Morgan D, et al. Among authors: strachan t. Nat Genet. 1998 Oct;20(2):149-56. doi: 10.1038/2450. Nat Genet. 1998. PMID: 9771707

6

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

Bourn D, Carter SA, Evans DG, Goodship J, Coakham H, Strachan T. Bourn D, et al. Among authors: strachan t. Am J Hum Genet. 1994 Jul;55(1):69-73. Am J Hum Genet. 1994. PMID: 8023853 Free PMC article.

7

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A. Sakuntabhai A, et al. Among authors: strachan t. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178

8

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. Tonkin ET, et al. Among authors: strachan t. Nat Genet. 2004 Jun;36(6):636-41. doi: 10.1038/ng1363. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146185

9

Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. Bashir R, et al. Among authors: strachan t. Nat Genet. 1998 Sep;20(1):37-42. doi: 10.1038/1689. Nat Genet. 1998. PMID: 9731527

10

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Tassabehji M, et al. Among authors: strachan t. Nat Genet. 1993 Jan;3(1):26-30. doi: 10.1038/ng0193-26. Nat Genet. 1993. PMID: 8490648

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