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Items: 18

1.
Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression
M. A. Zouache, B. T. Richards, C. M. Pappas, R. A. Anstadt, J. Liu, T. Corsetti, S. Matthews, N. A. Seager, S. Schmitz-Valckenberg, M. Fleckenstein, W. C. Hubbard, J. Thomas, J. L. Hageman, B. L. Williams, G. S. Hageman
Nat Commun. 2024; 15: 443. Published online 2024 Jan 10. doi: 10.1038/s41467-023-44605-0
PMCID:
PMC10781981
AbstractArticlePDF–2.5M
2.
CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome
Rossella Piras, Elisabetta Valoti, Marta Alberti, Elena Bresin, Caterina Mele, Matteo Breno, Lucia Liguori, Roberta Donadelli, Miriam Rigoldi, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
Front Immunol. 2022; 13: 1011580. Published online 2023 Jan 30. doi: 10.3389/fimmu.2022.1011580
PMCID:
PMC9923232
AbstractArticlePDF–8.0M
3.
Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma
Hongjun Yu, Chaoqun Wang, Shanjia Ke, Miaoyu Bai, Yanan Xu, Shounan Lu, Zhigang Feng, Baolin Qian, Yue Xu, Menghua Zhou, Zihao Li, Bing Yin, Xinglong Li, Yongliang Hua, Yongzhi Zhou, Shangha Pan, Yao Fu, Yong Ma
Front Immunol. 2022; 13: 892750. Published online 2022 Jun 22. doi: 10.3389/fimmu.2022.892750
PMCID:
PMC9257081
AbstractArticlePDF–15M
4.
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration
Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna, Selina McHarg, Nadhim Bayatti, İlhan E. Acar, Carel B. Hoyng, Sascha Fauser, Anthony T. Moore, John R. W. Yates, Eiko K. de Jong, B. Paul Morgan, Anneke I. den Hollander, Paul N. Bishop, Simon J. Clark
Nat Commun. 2020; 11: 778. Published online 2020 Feb 7. doi: 10.1038/s41467-020-14499-3
PMCID:
PMC7005798
AbstractArticlePDF–2.9M
5.
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
Mark McCormack, Hongsheng Gui, Andrés Ingason, Doug Speed, Galen E.B. Wright, Eunice J. Zhang, Rodrigo Secolin, Clarissa Yasuda, Maxwell Kwok, Stefan Wolking, Felicitas Becker, Sarah Rau, Andreja Avbersek, Kristin Heggeli, Costin Leu, Chantal Depondt, Graeme J. Sills, Anthony G. Marson, Pauls Auce, Martin J. Brodie, Ben Francis, Michael R. Johnson, Bobby P.C. Koeleman, Pasquale Striano, Antonietta Coppola, Federico Zara, Wolfram S. Kunz, Josemir W. Sander, Holger Lerche, Karl Martin Klein, Sarah Weckhuysen, Martin Krenn, Lárus J. Gudmundsson, Kári Stefánsson, Roland Krause, Neil Shear, Colin J.D. Ross, Norman Delanty, for the EPIGEN Consortium;, Munir Pirmohamed, Bruce C. Carleton, for the Canadian Pharmacogenomics Network for Drug Safety;, Fernando Cendes, Iscia Lopes-Cendes, Wei-ping Liao, Terence J. O'Brien, Sanjay M. Sisodiya, for the EpiPGX Consortium;, Stacey Cherny, Patrick Kwan, Larry Baum, for the International League Against Epilepsy Consortium on Complex Epilepsies;, Gianpiero L. Cavalleri
Neurology. 2018 Jan 23; 90(4): e332–e341. doi: 10.1212/WNL.0000000000004853
Correction in:
Neurology. 2018 Oct 16; 91(16): 765.
PMCID:
PMC5798660
AbstractArticlePDF–1.0M
6.
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk
Anne E. Hughes, Stephen Bridgett, Weihua Meng, Mingyao Li, Christine A. Curcio, Dwight Stambolian, Declan T. Bradley
Invest Ophthalmol Vis Sci. 2016 May; 57(6): 2763–2769. Published online 2016 May 19. doi: 10.1167/iovs.15-18744
PMCID:
PMC4884056
AbstractArticlePDF–322K
7.
Genetic Factors In Non-smokers with Age-related Macular Degeneration Revealed Through Genome-wide Gene-Environment Interaction Analysis
Adam C. Naj, William K. Scott, Monique D. Courtenay, William H. Cade, Stephen G. Schwartz, Jaclyn L. Kovach, Anita Agarwal, Gaofeng Wang, Jonathan L. Haines, Margaret A. Pericak-Vance
Ann Hum Genet. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Ann Hum Genet. 2013 May; 77(3): 215–231. doi: 10.1111/ahg.12011
PMCID:
PMC3625984
AbstractArticlePDF–654K
8.
Ischemic Stroke Is Associated with the ABO Locus: The EuroCLOT Study
Frances M K Williams, Angela M Carter, Pirro G Hysi, Gabriela Surdulescu, Dylan Hodgkiss, Nicole Soranzo, Matthew Traylor, Steve Bevan, Martin Dichgans, Peter M W Rothwell, Cathie Sudlow, Martin Farrall, Kaisa Silander, Mari Kaunisto, Peter Wagner, Olli Saarela, Kari Kuulasmaa, Jarmo Virtamo, Veikko Salomaa, Philippe Amouyel, Dominique Arveiler, Jean Ferrieres, Per-Gunnar Wiklund, M Arfan Ikram, Albert Hofman, Giorgio B Boncoraglio, Eugenio A Parati, Anna Helgadottir, Solveig Gretarsdottir, Unnur Thorsteinsdottir, Gudmar Thorleifsson, Kari Stefansson, Sudha Seshadri, Anita DeStefano, Andreas Gschwendtner, Bruce Psaty, Will Longstreth, Braxton D Mitchell, Yu-Ching Cheng, Robert Clarke, Marco Ferrario, Joshua C Bis, Christopher Levi, John Attia, Elizabeth G Holliday, Rodney J Scott, Myriam Fornage, Pankaj Sharma, Karen L Furie, Jonathan Rosand, Mike Nalls, James Meschia, Thomas H Mosely, Alun Evans, Aarno Palotie, Hugh S Markus, Peter J Grant, Tim D Spector, on Behalf of the EuroCLOT Investigators, the Wellcome Trust Case Control Consortium 2, MOnica Risk, Genetics, Archiving and Monograph, MetaStroke, and the International Stroke Genetics Consortium
Ann Neurol. 2013 Jan; 73(1): 16–31. Published online 2013 Feb 4. doi: 10.1002/ana.23838
PMCID:
PMC3582024
AbstractArticlePDF–577K
9.
Genome-wide Association Study Identifies Susceptibility Loci for IgA Nephropathy
Ali G. Gharavi, Krzysztof Kiryluk, Murim Choi, Yifu Li, Ping Hou, Jingyuan Xie, Simone Sanna-Cherchi, Clara J. Men, Bruce A. Julian, Robert J. Wyatt, Jan Novak, John C. He, Haiyan Wang, Jicheng Lv, Li Zhu, Weiming Wang, Zhaohui Wang, Kasuhito Yasuno, Murat Gunel, Shrikant Mane, Sheila Umlauf, Irina Tikhonova, Isabel Beerman, Silvana Savoldi, Riccardo Magistroni, Gian Marco Ghiggeri, Monica Bodria, Francesca Lugani, Pietro Ravani, Claudio Ponticelli, Landino Allegri, Giuliano Boscutti, Giovanni Frasca, Alessandro Amore, Licia Peruzzi, Rosanna Coppo, Claudia Izzi, Fabio Viola, Elisabetta Prati, Maurizio Salvadori, Renzo Mignani, Loreto Gesualdo, Francesca Bertinetto, Silvana Paola Mesiano, Antonio Amoroso, Francesco Scolari, Nan Chen, Hong Zhang, Richard P. Lifton
Nat Genet. Author manuscript; available in PMC 2012 Aug 6.
Published in final edited form as: Nat Genet. 2011 Mar 13; 43(4): 321–327. Published online 2011 Mar 13. doi: 10.1038/ng.787
PMCID:
PMC3412515
AbstractArticlePDF–1.0M
10.
Factor H-related Protein 4 Activates Complement by Serving as a Platform for the Assembly of Alternative Pathway C3 Convertase via Its Interaction with C3b Protein
Mario Hebecker, Mihály Józsi
J Biol Chem. 2012 Jun 1; 287(23): 19528–19536. Published online 2012 Apr 19. doi: 10.1074/jbc.M112.364471
PMCID:
PMC3365989
AbstractArticlePDF–1.6M
11.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
12.
Association of Genetic Variants in Complement Factor H and Factor H-Related Genes with Systemic Lupus Erythematosus Susceptibility
Jian Zhao, Hui Wu, Melanie Khosravi, Huijuan Cui, Xiaoxia Qian, Jennifer A. Kelly, Kenneth M. Kaufman, Carl D. Langefeld, Adrienne H. Williams, Mary E. Comeau, Julie T. Ziegler, Miranda C. Marion, Adam Adler, Stuart B. Glenn, Marta E. Alarcón-Riquelme, BIOLUPUS Network, GENLES Network, Bernardo A. Pons-Estel, John B. Harley, Sang-Cheol Bae, So-Young Bang, Soo-Kyung Cho, Chaim O. Jacob, Timothy J. Vyse, Timothy B. Niewold, Patrick M. Gaffney, Kathy L. Moser, Robert P. Kimberly, Jeffrey C. Edberg, Elizabeth E. Brown, Graciela S. Alarcon, Michelle A. Petri, Rosalind Ramsey-Goldman, Luis M. Vilá, John D. Reveille, Judith A. James, Gary S. Gilkeson, Diane L. Kamen, Barry I. Freedman, Juan-Manuel Anaya, Joan T. Merrill, Lindsey A. Criswell, R. Hal Scofield, Anne M. Stevens, Joel M. Guthridge, Deh-Ming Chang, Yeong Wook Song, Ji Ah Park, Eun Young Lee, Susan A. Boackle, Jennifer M. Grossman, Bevra H. Hahn, Timothy H. J. Goodship, Rita M. Cantor, Chack-Yung Yu, Nan Shen, Betty P. Tsao
PLoS Genet. 2011 May; 7(5): e1002079. Published online 2011 May 26. doi: 10.1371/journal.pgen.1002079
PMCID:
PMC3102741
AbstractArticlePDF–726K
13.
Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration
Wan-Yu Lin, Wen-Chung Lee
BMC Res Notes. 2010; 3: 26. Published online 2010 Jan 28. doi: 10.1186/1756-0500-3-26
PMCID:
PMC2843735
AbstractArticlePDF–248K
14.
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
Iain Moore, Lisa Strain, Isabel Pappworth, David Kavanagh, Paul N. Barlow, Andrew P. Herbert, Christoph Q. Schmidt, Scott J. Staniforth, Lucy V. Holmes, Roy Ward, Lynn Morgan, Timothy H. J. Goodship, Kevin J. Marchbank
Blood. 2010 Jan 14; 115(2): 379–387. Prepublished online 2009 Oct 27. doi: 10.1182/blood-2009-05-221549
PMCID:
PMC2829859
AbstractArticle
15.
The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration
Hong Zhang, Margaux A Morrison, Andy DeWan, Scott Adams, Michael Andreoli, Nancy Huynh, Maureen Regan, Alison Brown, Joan W Miller, Ivana K Kim, Josephine Hoh, Margaret M DeAngelis
BMC Med Genet. 2008; 9: 51. Published online 2008 Jun 9. doi: 10.1186/1471-2350-9-51
PMCID:
PMC2441616
AbstractArticlePDF–1.6M
16.
Extended Haplotypes in the Complement Factor H (CFH) and CFH-related (CFHR) Family of Genes that Protect against Age-related Macular Degeneration: Identification, Ethnic Distribution and Evolutionary Implications
Gregory S. Hageman, Lisa S. Hancox, Andrew J. Taiber, Karen M. Gehrs, Don H. Anderson, Lincoln V. Johnson, Monte J. Radeke, David Kavanagh, Anna Richards, John Atkinson, Seppo Meri, Julie Bergeron, Jana Zernant, Joanna Merriam, Bert Gold, Rando Allikmets, Michael Dean, the AMD Clinical Study Group
Ann Med. Author manuscript; available in PMC 2007 Jul 2.
Published in final edited form as: Ann Med. 2006; 38(8): 592–604.
PMCID:
PMC1905836
AbstractArticlePDF–470K
17.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
18.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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