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Items: 1 to 20 of 34

1.

An update on the genetics of age-related macular degeneration.

Scholl HP, Fleckenstein M, Charbel Issa P, Keilhauer C, Holz FG, Weber BH.

Mol Vis. 2007 Feb 7;13:196-205. Review.

2.

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, López-Trascasa M, Sánchez-Corral P, Morgan BP, Rodríguez de Córdoba S.

Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. Epub 2006 Dec 20. Erratum in: Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10749.

3.

Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.

Saland JM, Emre SH, Shneider BL, Benchimol C, Ames S, Bromberg JS, Remuzzi G, Strain L, Goodship TH.

Am J Transplant. 2006 Aug;6(8):1948-52.

4.

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.

Kidney Int. 2006 Jul;70(1):42-50. Epub 2006 Apr 12.

5.

Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.

Esparza-Gordillo J, Jorge EG, Garrido CA, Carreras L, López-Trascasa M, Sánchez-Corral P, de Córdoba SR.

Mol Immunol. 2006 Apr;43(11):1769-75. Epub 2006 Jan 18.

PMID:
16386793
6.

Comparison of surface recognition and C3b binding properties of mouse and human complement factor H.

Cheng ZZ, Hellwage J, Seeberger H, Zipfel PF, Meri S, Jokiranta TS.

Mol Immunol. 2006 Mar;43(7):972-9. Epub 2005 Jul 14.

PMID:
16023208
7.

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R.

Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. Epub 2005 May 3.

8.

Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15.

Licht C, Weyersberg A, Heinen S, Stapenhorst L, Devenge J, Beck B, Waldherr R, Kirschfink M, Zipfel PF, Hoppe B.

Am J Kidney Dis. 2005 Feb;45(2):415-21.

PMID:
15685522
9.

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, Carreras Berges L, López-Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S.

Hum Mol Genet. 2005 Mar 1;14(5):703-12. Epub 2005 Jan 20. Erratum in: Hum Mol Genet. 2005 Apr 15;14(8):1107.

10.

Challenges in the management of infantile factor H associated hemolytic uremic syndrome.

Filler G, Radhakrishnan S, Strain L, Hill A, Knoll G, Goodship TH.

Pediatr Nephrol. 2004 Aug;19(8):908-11. Epub 2004 Jun 16.

PMID:
15206027
11.

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH.

J Med Genet. 2004 Jun;41(6):e84. No abstract available.

12.

The human complement factor H: functional roles, genetic variations and disease associations.

Rodríguez de Córdoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sánchez-Corral P.

Mol Immunol. 2004 Jun;41(4):355-67. Review.

PMID:
15163532
13.

Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.

Sánchez-Corral P, González-Rubio C, Rodríguez de Córdoba S, López-Trascasa M.

Mol Immunol. 2004 May;41(1):81-4.

PMID:
15140578
14.

Attempted treatment of factor H deficiency by liver transplantation.

Cheong HI, Lee BS, Kang HG, Hahn H, Suh KS, Ha IS, Choi Y.

Pediatr Nephrol. 2004 Apr;19(4):454-8. Epub 2004 Feb 24.

PMID:
14986080
15.

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Herman Fridman W, Weiss L.

J Am Soc Nephrol. 2004 Mar;15(3):787-95.

16.

Familial haemolytic uraemic syndrome and an MCP mutation.

Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Lancet. 2003 Nov 8;362(9395):1542-7.

PMID:
14615110
17.

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP.

Hum Mol Genet. 2003 Dec 15;12(24):3385-95. Epub 2003 Oct 28.

18.

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Müslümanoğlu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH.

Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12966-71. Epub 2003 Oct 17.

19.

The risk of recurrence of hemolytic uremic syndrome after renal transplantation in children.

Loirat C, Niaudet P.

Pediatr Nephrol. 2003 Nov;18(11):1095-101. Epub 2003 Sep 17. Review.

PMID:
13680331
20.

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.

Neumann HP, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender BU, Cybulla M, Riegler P, Königsrainer A, Neyer U, Bock A, Widmer U, Male DA, Franke G, Zipfel PF.

J Med Genet. 2003 Sep;40(9):676-81.

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