Perkins SJ - Search Results

1

CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool.

Saunders RE, Perkins SJ. Saunders RE, et al. Among authors: perkins sj. Hum Mutat. 2008 Mar;29(3):333-44. doi: 10.1002/humu.20629. Hum Mutat. 2008. PMID: 18058827

2

Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling.

O'Connell NM, Saunders RE, Lee CA, Perry DJ, Perkins SJ. O'Connell NM, et al. Among authors: perkins sj. J Thromb Haemost. 2005 Jan;3(1):127-38. doi: 10.1111/j.1538-7836.2004.01088.x. J Thromb Haemost. 2005. PMID: 15634276 Free article.

3

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.

Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ. Saunders RE, et al. Among authors: perkins sj. Hum Mutat. 2005 Sep;26(3):192-8. doi: 10.1002/humu.20214. Hum Mutat. 2005. PMID: 16086308

4

An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

Saunders RE, Goodship TH, Zipfel PF, Perkins SJ. Saunders RE, et al. Among authors: perkins sj. Hum Mutat. 2006 Jan;27(1):21-30. doi: 10.1002/humu.20268. Hum Mutat. 2006. PMID: 16281287

5

Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions.

Józsi M, Heinen S, Hartmann A, Ostrowicz CW, Hälbich S, Richter H, Kunert A, Licht C, Saunders RE, Perkins SJ, Zipfel PF, Skerka C. Józsi M, et al. Among authors: perkins sj. J Am Soc Nephrol. 2006 Jan;17(1):170-7. doi: 10.1681/ASN.2005080868. Epub 2005 Dec 7. J Am Soc Nephrol. 2006. PMID: 16338962

6

A user's guide to the interactive Web database of factor H-associated hemolytic uremic syndrome.

Saunders RE, Perkins SJ. Saunders RE, et al. Among authors: perkins sj. Semin Thromb Hemost. 2006 Mar;32(2):160-8. doi: 10.1055/s-2006-939772. Semin Thromb Hemost. 2006. PMID: 16575691

7

Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).

Licht C, Heinen S, Józsi M, Löschmann I, Saunders RE, Perkins SJ, Waldherr R, Skerka C, Kirschfink M, Hoppe B, Zipfel PF. Licht C, et al. Among authors: perkins sj. Kidney Int. 2006 Jul;70(1):42-50. doi: 10.1038/sj.ki.5000269. Epub 2006 Apr 12. Kidney Int. 2006. PMID: 16612335 Free article.

8

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Saunders RE, Abarrategui-Garrido C, Frémeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, López Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodríguez de Córdoba S, Sánchez-Corral P, Skerka C, Zipfel PF, Perkins SJ. Saunders RE, et al. Among authors: perkins sj. Hum Mutat. 2007 Mar;28(3):222-34. doi: 10.1002/humu.20435. Hum Mutat. 2007. PMID: 17089378

9

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.

Edey MM, Mead PA, Saunders RE, Strain L, Perkins SJ, Goodship TH, Kanagasundaram NS. Edey MM, et al. Among authors: perkins sj. Am J Kidney Dis. 2008 Mar;51(3):487-90. doi: 10.1053/j.ajkd.2007.08.030. Am J Kidney Dis. 2008. PMID: 18295065

10

Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.

Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ. Saunders RE, et al. Among authors: perkins sj. Thromb Haemost. 2009 Aug;102(2):287-301. doi: 10.1160/TH09-01-0044. Thromb Haemost. 2009. PMID: 19652879

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