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Select item 110291471.

Local expression of complement factor I in breast cancer cells correlates with poor survival and recurrence

Marcin Okroj, Emelie Holmquist, Elise Nilsson, Lola Anagnostaki, Karin Jirström, Anna M. Blom

Cancer Immunol Immunother. 2015 Apr; 64(4): 467–478. Published online 2015 Jan 25. doi: 10.1007/s00262-015-1658-8

PMCID:: PMC11029147

Abstract Article PDF–1.1M

Select item 107510162.

CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab

Valérie Massey, Cam-Tu Emilie Nguyen, Tine François, Jean Jacques De Bruycker, Arnaud Bonnefoy, Anne-Laure Lapeyraque, Hélène Decaluwe

Neurol Neuroimmunol Neuroinflamm. 2024 Mar; 11(2): e200191. Published online 2023 Dec 22. doi: 10.1212/NXI.0000000000200191

PMCID:: PMC10751016

Abstract Article PDF–266K

Select item 104476073.

Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I

Anuja Java, John Atkinson, Zheng Hu, Nicola Pozzi

Blood. 2023 Aug 10; 142(6): 607–610. Published online 2023 Jun 28. doi: 10.1182/blood.2022019361

PMCID:: PMC10447607

Abstract Article

Select item 96165754.

Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration

Anuja Java, Nicola Pozzi, Molly C Schroeder, Zheng Hu, Tianxiao Huan, Johanna M Seddon, John Atkinson

Hum Mol Genet. 2022 Nov 1; 31(21): 3683–3693. Published online 2022 May 9. doi: 10.1093/hmg/ddac103

PMCID:: PMC9616575

Abstract Article PDF–1.5M

Select item 94479155.

An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access

Amy V. Jones, Darin Curtiss, Claire Harris, Tom Southerington, Marco Hautalahti, Pauli Wihuri, Johanna Mäkelä, Roosa E. Kallionpää, Enni Makkonen, Theresa Knopp, Arto Mannermaa, Erna Mäkinen, Anne-Mari Moilanen, Tongalp H. Tezel, on behalf of the SCOPE Study group, Nadia K. Waheed

PLoS One. 2022; 17(9): e0272260. Published online 2022 Sep 6. doi: 10.1371/journal.pone.0272260

PMCID:: PMC9447915

Abstract Article PDF–699K

Select item 92907146.

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy

Adnan H. Khan, Janice Sutton, Angela J. Cree, Samir Khandhadia, Gabriella De Salvo, John Tobin, Priya Prakash, Rashi Arora, Winfried Amoaku, Peter Charbel Issa, Robert E. MacLaren, Paul N. Bishop, Tunde Peto, Quresh Mohamed, David H. Steel, Sobha Sivaprasad, Clare Bailey, Geeta Menon, David Kavanagh, Andrew J. Lotery

Hum Mutat. 2021 Sep; 42(9): 1139–1152. Published online 2021 Jun 29. doi: 10.1002/humu.24242

PMCID:: PMC9290714

Abstract Article PDF–2.1M

Select item 87666607.

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome

Sarah de Jong, Anita de Breuk, Bjorn Bakker, Suresh Katti, Carel B. Hoyng, Sara C. Nilsson, Anna M. Blom, Lambert P. van den Heuvel, Anneke I. den Hollander, Elena B. Volokhina

Front Immunol. 2021; 12: 789897. Published online 2022 Jan 5. doi: 10.3389/fimmu.2021.789897

PMCID:: PMC8766660

Abstract Article PDF–2.3M

Select item 74247548.

Effect of rare coding variants in the CFI gene on Factor I expression levels

Sarah de Jong, Elena B Volokhina, Anita de Breuk, Sara C Nilsson, Eiko K de Jong, Nicole C A J van der Kar, Bjorn Bakker, Carel B Hoyng, Lambert P van den Heuvel, Anna M Blom, Anneke I den Hollander

Hum Mol Genet. 2020 Aug 11; 29(14): 2313–2324. Published online 2020 Jun 8. doi: 10.1093/hmg/ddaa114

PMCID:: PMC7424754

Abstract Article PDF–1.4M

Select item 71460479.

Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis

Qianqian Yu, Jing Zhu, Yong Yao, Chao Sun

Biosci Rep. 2020 Apr 30; 40(4): BSR20200406. Published online 2020 Apr 9. doi: 10.1042/BSR20200406

PMCID:: PMC7146047

Abstract Article PDF–1.9M

Select item 590419510.

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I

Sira Nanthapisal, Despina Eleftheriou, Kimberly Gilmour, Valentina Leone, Radhika Ramnath, Ebun Omoyinmi, Ying Hong, Nigel Klein, Paul A. Brogan

Front Immunol. 2018; 9: 735. Published online 2018 Apr 11. doi: 10.3389/fimmu.2018.00735

PMCID:: PMC5904195

Abstract Article PDF–905K

Select item 473415411.

CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome

Ma-Li Dai, Xiu-Feng Huang, Qing-Feng Wang, Wei-Jun Cai, Zi-Bing Jin, Yuqin Wang

Mol Vis. 2016; 22: 9–17. Published online 2016 Jan 14.

PMCID:: PMC4734154

Abstract Article PDF–427K

Select item 423140612.

Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population

Dingguo Qian, Mengyuan Kan, Xiaoling Weng, Yugeng Huang, Changbo Zhou, Genlong Yu, Ting Wang, Daizhan Zhou, Zhou Zhang, Di Zhang, Wei Tang, Yun Liu

Eur J Hum Genet. 2014 Dec; 22(12): 1417–1419. Published online 2014 Mar 19. doi: 10.1038/ejhg.2014.37

PMCID:: PMC4231406

Article PDF–161K

Select item 416532413.

Complement factor I and age-related macular degeneration

Philip Alexander, Jane Gibson, Angela J. Cree, Sarah Ennis, Andrew J. Lotery

Mol Vis. 2014; 20: 1253–1257. Published online 2014 Sep 13.

PMCID:: PMC4165324

Abstract Article PDF–328K

Select item 390204014.

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

Johanna M. Seddon, Yi Yu, Elizabeth C. Miller, Robyn Reynolds, Perciliz L. Tan, Sivakumar Gowrisankar, Jacqueline I. Goldstein, Michael Triebwasser, Holly E. Anderson, Jennyfer Zerbib, David Kavanagh, Eric Souied, Nicholas Katsanis, Mark J. Daly, John Atkinson, Soumya Raychaudhuri

Nat Genet. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Nat Genet. 2013 Nov; 45(11): 1366–1370. Published online 2013 Sep 15. doi: 10.1038/ng.2741

PMCID:: PMC3902040

Abstract Article PDF–1.4M

Select item 354016515.

Mutations of Complement Factor I and Potential Mechanisms of Neuroinflammation in Acute Hemorrhagic Leukoencephalitis

Lori Broderick, Chhavi Gandhi, James L. Mueller, Christopher D. Putnam, Katayoon Shayan, Patricia C. Giclas, Karin S. Peterson, Seema S. Aceves, Robert M. Sheets, Bradley M. Peterson, Robert O. Newbury, Hal M. Hoffman, John F. Bastian

J Clin Immunol. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: J Clin Immunol. 2013 Jan; 33(1): 162–171. Published online 2012 Aug 29. doi: 10.1007/s10875-012-9767-z

PMCID:: PMC3540165

Abstract Article PDF–3.1M

Select item 345896916.

Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion

María Alba-Domínguez, Alberto López-Lera, Sofía Garrido, Pilar Nozal, Ignacio González-Granado, Josefa Melero, Pere Soler-Palacín, Carmen Cámara, Margarita López-Trascasa

Orphanet J Rare Dis. 2012; 7: 42. Published online 2012 Jun 18. doi: 10.1186/1750-1172-7-42

PMCID:: PMC3458969

Abstract Article PDF–864K

Select item 330267017.

Factor I Autoantibodies in Patients with Atypical Hemolytic Uremic Syndrome: Disease-Associated or an Epiphenomenon?

David Kavanagh, Isabel Y. Pappworth, Holly Anderson, Christine M. Hayes, Iain Moore, Eva-Maria Hunze, Karim Bennaceur, Pietro Roversi, Susan Lea, Lisa Strain, Roy Ward, Nick Plant, Corina Nailescu, Timothy H. J. Goodship, Kevin J. Marchbank

Clin J Am Soc Nephrol. 2012 Mar; 7(3): 417–426. doi: 10.2215/CJN.05750611

PMCID:: PMC3302670

Abstract Article

Select item 315094018.

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

Pietro Roversi, Steven Johnson, Joseph J. E. Caesar, Florence McLean, Kirstin J. Leath, Stefanos A. Tsiftsoglou, B. Paul Morgan, Claire L. Harris, Robert B. Sim, Susan M. Lea

Proc Natl Acad Sci U S A. 2011 Aug 2; 108(31): 12839–12844. Published online 2011 Jul 18. doi: 10.1073/pnas.1102167108

PMCID:: PMC3150940

Abstract Article PDF–1.9M

Select item 298734719.

Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration

Naoshi Kondo, Hiroaki Bessho, Shigeru Honda, Akira Negi

Eur J Hum Genet. 2010 Jun; 18(6): 634–635. Published online 2010 Jan 20. doi: 10.1038/ejhg.2009.243

PMCID:: PMC2987347

Article PDF–104K

Select item 298596320.

Variation near complement factor I is associated with risk of advanced AMD

Jesen A Fagerness, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Mark J Daly, Johanna M Seddon

Eur J Hum Genet. 2009 Jan; 17(1): 100–104. Published online 2008 Aug 6. doi: 10.1038/ejhg.2008.140

PMCID:: PMC2985963

Abstract Article PDF–92K

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