Kavanagh D - Search Results

1

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM. Kavanagh D, et al. Hum Mol Genet. 2015 Jul 1;24(13):3861-70. doi: 10.1093/hmg/ddv091. Epub 2015 Mar 18. Hum Mol Genet. 2015. PMID: 25788521 Free PMC article.

2

Hemolytic uremic syndrome: an example of insufficient complement regulation on self-tissue.

Atkinson JP, Liszewski MK, Richards A, Kavanagh D, Moulton EA. Atkinson JP, et al. Among authors: kavanagh d. Ann N Y Acad Sci. 2005 Nov;1056:144-52. doi: 10.1196/annals.1352.032. Ann N Y Acad Sci. 2005. PMID: 16387683 Review.

3

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship TH, Atkinson JP. Richards A, et al. Among authors: kavanagh d. Mol Immunol. 2007 Jan;44(1-3):111-22. doi: 10.1016/j.molimm.2006.07.004. Epub 2006 Aug 1. Mol Immunol. 2007. PMID: 16882452 Review.

4

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.

Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M; AMD Clinical Study Group. Hageman GS, et al. Among authors: kavanagh d. Ann Med. 2006;38(8):592-604. Ann Med. 2006. PMID: 17438673 Free PMC article.

5

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.

Kavanagh D, Richards A, Noris M, Hauhart R, Liszewski MK, Karpman D, Goodship JA, Fremeaux-Bacchi V, Remuzzi G, Goodship TH, Atkinson JP. Kavanagh D, et al. Mol Immunol. 2008 Jan;45(1):95-105. doi: 10.1016/j.molimm.2007.05.004. Epub 2007 Jun 26. Mol Immunol. 2008. PMID: 17597211

6

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: kavanagh d. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820

7

Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome.

Kavanagh D, Richards A, Fremeaux-Bacchi V, Noris M, Goodship T, Remuzzi G, Atkinson JP. Kavanagh D, et al. Clin J Am Soc Nephrol. 2007 May;2(3):591-6. doi: 10.2215/CJN.03270906. Epub 2007 Feb 14. Clin J Am Soc Nephrol. 2007. PMID: 17699467 Review. No abstract available.

8

Complement regulatory genes and hemolytic uremic syndromes.

Kavanagh D, Richards A, Atkinson J. Kavanagh D, et al. Annu Rev Med. 2008;59:293-309. doi: 10.1146/annurev.med.59.060106.185110. Annu Rev Med. 2008. PMID: 17705684 Review.

9

Inherited complement regulatory protein deficiency predisposes to human disease in acute injury and chronic inflammatory statesthe examples of vascular damage in atypical hemolytic uremic syndrome and debris accumulation in age-related macular degeneration.

Richards A, Kavanagh D, Atkinson JP. Richards A, et al. Among authors: kavanagh d. Adv Immunol. 2007;96:141-77. doi: 10.1016/S0065-2776(07)96004-6. Adv Immunol. 2007. PMID: 17981206 Review.

10

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP. Kavanagh D, et al. Cell Cycle. 2008 Jun 15;7(12):1718-25. doi: 10.4161/cc.7.12.6162. Epub 2008 Jun 16. Cell Cycle. 2008. PMID: 18583934 Free PMC article. Review.

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