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Items: 1 to 20 of 186

1.

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.

Francis NJ, McNicholas B, Awan A, Waldron M, Reddan D, Sadlier D, Kavanagh D, Strain L, Marchbank KJ, Harris CL, Goodship TH.

Blood. 2012 Jan 12;119(2):591-601. doi: 10.1182/blood-2011-03-339903. Epub 2011 Nov 4.

2.

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ.

Blood. 2010 Jan 14;115(2):379-87. doi: 10.1182/blood-2009-05-221549. Epub 2009 Oct 27.

3.

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.

Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P.

Blood. 2009 Nov 5;114(19):4261-71. doi: 10.1182/blood-2009-05-223834. Epub 2009 Sep 10.

4.

A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.

Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M.

J Am Soc Nephrol. 2015 Jan;26(1):209-19. doi: 10.1681/ASN.2013121339. Epub 2014 Jun 5.

5.

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.

Józsi M, Licht C, Strobel S, Zipfel SL, Richter H, Heinen S, Zipfel PF, Skerka C.

Blood. 2008 Feb 1;111(3):1512-4. Epub 2007 Nov 15.

6.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH.

PLoS Med. 2006 Oct;3(10):e431.

7.

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.

PLoS Genet. 2007 Mar 16;3(3):e41. Epub 2007 Feb 1.

8.

Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.

Lee BH, Kwak SH, Shin JI, Lee SH, Choi HJ, Kang HG, Ha IS, Lee JS, Dragon-Durey MA, Choi Y, Cheong HI.

Pediatr Res. 2009 Sep;66(3):336-40. doi: 10.1203/PDR.0b013e3181b1bd4a.

PMID:
19531976
9.

The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.

Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Frémeaux-Bacchi V.

J Med Genet. 2009 Jul;46(7):447-50. doi: 10.1136/jmg.2008.064766. Epub 2009 May 11.

10.

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C.

Hum Mol Genet. 2010 Dec 1;19(23):4694-704. doi: 10.1093/hmg/ddq399. Epub 2010 Sep 15.

PMID:
20843825
11.

Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.

Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P.

Mol Immunol. 2015 Oct;67(2 Pt B):276-86. doi: 10.1016/j.molimm.2015.06.021. Epub 2015 Jul 7.

PMID:
26163426
12.

Copy number variation in the complement factor H-related genes and age-related macular degeneration.

Kubista KE, Tosakulwong N, Wu Y, Ryu E, Roeder JL, Hecker LA, Baratz KH, Brown WL, Edwards AO.

Mol Vis. 2011;17:2080-92. Epub 2011 Aug 6.

13.

Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anti-complement factor H autoantibodies.

Boyer O, Balzamo E, Charbit M, Biebuyck-Gougé N, Salomon R, Dragon-Durey MA, Frémeaux-Bacchi V, Niaudet P.

Am J Kidney Dis. 2010 May;55(5):923-7. doi: 10.1053/j.ajkd.2009.12.026. Epub 2010 Mar 3.

PMID:
20202729
14.

A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.

Challis RC, Araujo GS, Wong EK, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship TH, Kavanagh D.

J Am Soc Nephrol. 2016 Jun;27(6):1617-24. doi: 10.1681/ASN.2015010100. Epub 2015 Oct 21.

15.

A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome.

Eyler SJ, Meyer NC, Zhang Y, Xiao X, Nester CM, Smith RJ.

Pediatr Nephrol. 2013 Nov;28(11):2221-5. doi: 10.1007/s00467-013-2560-2. Epub 2013 Jul 24.

16.

The autoimmune disease DEAP-hemolytic uremic syndrome.

Skerka C, Zipfel PF, Müller D, Micklisch S, Riedl M, Zimmerhackl LB, Hofer J.

Semin Thromb Hemost. 2010 Sep;36(6):625-32. doi: 10.1055/s-0030-1262884. Epub 2010 Sep 23.

PMID:
20865639
17.

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.

Hum Mutat. 2006 Mar;27(3):292-3.

PMID:
16470555
18.

Complement factor H related proteins (CFHRs).

Skerka C, Chen Q, Fremeaux-Bacchi V, Roumenina LT.

Mol Immunol. 2013 Dec 15;56(3):170-80. doi: 10.1016/j.molimm.2013.06.001. Epub 2013 Jul 3. Review.

19.

Complement factor H related proteins in immune diseases.

Skerka C, Zipfel PF.

Vaccine. 2008 Dec 30;26 Suppl 8:I9-14. Review.

PMID:
19388158
20.

Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome.

Józsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, Skerka C, Zipfel PF.

Blood. 2007 Sep 1;110(5):1516-8. Epub 2007 May 10.

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