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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: goodship th. Hum Mutat. 2007 Mar;28(3):222-34. doi: 10.1002/humu.20435. Hum Mutat. 2007. PMID: 17089378
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship TH. Heinen S, et al. Among authors: goodship ja, goodship th. Hum Mutat. 2006 Mar;27(3):292-3. doi: 10.1002/humu.9408. Hum Mutat. 2006. PMID: 16470555
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ. Osborne AJ, et al. Among authors: goodship thj. J Immunol. 2018 Apr 1;200(7):2464-2478. doi: 10.4049/jimmunol.1701695. Epub 2018 Mar 2. J Immunol. 2018. PMID: 29500241 Free PMC article.
Atypical aHUS: State of the art.
Nester CM, Barbour T, de Cordoba SR, Dragon-Durey MA, Fremeaux-Bacchi V, Goodship TH, Kavanagh D, Noris M, Pickering M, Sanchez-Corral P, Skerka C, Zipfel P, Smith RJ. Nester CM, et al. Among authors: goodship th. Mol Immunol. 2015 Sep;67(1):31-42. doi: 10.1016/j.molimm.2015.03.246. Epub 2015 Apr 3. Mol Immunol. 2015. PMID: 25843230 Review.
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR; European Working Party on the Genetics of HUS. Martinez-Barricarte R, et al. J Am Soc Nephrol. 2008 Mar;19(3):639-46. doi: 10.1681/ASN.2007080923. Epub 2008 Jan 30. J Am Soc Nephrol. 2008. PMID: 18235085 Free PMC article.
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
Zipfel PF, Edey M, Heinen S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C. Zipfel PF, et al. Among authors: goodship ja, goodship th. PLoS Genet. 2007 Mar 16;3(3):e41. doi: 10.1371/journal.pgen.0030041. Epub 2007 Feb 1. PLoS Genet. 2007. PMID: 17367211 Free PMC article.
197 results