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Select item 109575501.

Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication

Yuko Tasaki, Hiroshi Tsujimoto, Tadafumi Yokoyama, Naotoshi Sugimoto, Shinji Kitajima, Hiroshi Fujii, Yoshihiko Hidaka, Noritoshi Kato, Shoichi Maruyama, Norimitsu Inoue, Taizo Wada

Front Immunol. 2024; 15: 1360855. Published online 2024 Mar 8. doi: 10.3389/fimmu.2024.1360855

PMCID:: PMC10957550

Abstract Article PDF–709K

Select item 103259982.

The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases

Abderaouf Hamza, Carine El-Sissy, Nadhir Yousfi, Paula Vieira Martins, Cédric Rafat, Julien Masliah-Planchon, Véronique Frémeaux-Bacchi, Laurent Mesnard

Eur J Hum Genet. 2023 Jul; 31(7): 730–732. Published online 2023 Apr 10. doi: 10.1038/s41431-023-01350-8

PMCID:: PMC10325998

Article PDF–614K

Select item 99232323.

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

Abstract Article PDF–8.0M

Select item 95020584.

Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations

Vikrant Kumar, Richard B. Pouw, Matias I. Autio, Manfred G. Sagmeister, Zai Yang Phua, Lisa Borghini, Victoria J. Wright, Clive Hoggart, Bangfen Pan, Antson Kiat Yee Tan, Alexander Binder, Mieke C. Brouwer, Ellie Pinnock, Ronald De Groot, Jan Hazelzet, Marieke Emonts, Michiel Van Der Flier, Karl Reiter, Markus M. Nöthen, Per Hoffmann, EUCLIDS consortium, Luregn J. Schlapbach, Evangelos Bellos, Suzanne Anderson, Fatou Secka, Federico Martinón-Torres, Antonio Salas, Colin Fink, Enitan D. Carrol, Andrew J. Pollard, Lachlan J. Coin, Werner Zenz, Diana Wouters, Lay Teng Ang, Martin L. Hibberd, Michael Levin, Taco W. Kuijpers, Sonia Davila

Am J Hum Genet. 2022 Sep 1; 109(9): 1680–1691. Published online 2022 Aug 24. doi: 10.1016/j.ajhg.2022.08.001

PMCID:: PMC9502058

Abstract Article PDF–1.9M

Select item 94487175.

Anti-factor H antibody and its role in atypical hemolytic uremic syndrome

Rupesh Raina, Guneive Mangat, Gordon Hong, Raghav Shah, Nikhil Nair, Brian Abboud, Sumedha Bagga, Sidharth Kumar Sethi

Front Immunol. 2022; 13: 931210. Published online 2022 Aug 23. doi: 10.3389/fimmu.2022.931210

PMCID:: PMC9448717

Abstract Article PDF–753K

Select item 93655696.

The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma

Zhongzhong Wan, Xingrun Li, Xinru Luo, Bofan Wang, Xiang Zhou, Ao Chen

Aging (Albany NY) 2022 Jul 31; 14(14): 5783–5799. Published online 2022 Jul 18. doi: 10.18632/aging.204178

Correction in:: Aging (Albany NY). 2022 Oct 15; 14(19): 8139.

PMCID:: PMC9365569

Abstract Article PDF–2.7M

Select item 86066547.

Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells

Nicole Schäfer, Anas Rasras, Delia M. Ormenisan, Sabine Amslinger, Volker Enzmann, Herbert Jägle, Diana Pauly

Front Immunol. 2021; 12: 769242. Published online 2021 Nov 8. doi: 10.3389/fimmu.2021.769242

PMCID:: PMC8606654

Abstract Article PDF–11M

Select item 81650308.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 72119939.

A genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes

Lejla Alic, Nikolina Papac-Milicevic, Darina Czamara, Ramona B. Rudnick, Maria Ozsvar-Kozma, Andrea Hartmann, Michael Gurbisz, Gregor Hoermann, Stefanie Haslinger-Hutter, Peter F. Zipfel, Christine Skerka, Elisabeth B. Binder, Christoph J. Binder

Proc Natl Acad Sci U S A. 2020 May 5; 117(18): 9942–9951. Published online 2020 Apr 22. doi: 10.1073/pnas.1913970117

PMCID:: PMC7211993

Abstract Article PDF–2.0M

Select item 672388310.

Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection

Grazielle Esteves Ribeiro, Luis Edgardo Leon, Ruth Perez, Analia Cuiza, Pablo Agustin Vial, Marcela Ferres, Gregory J. Mertz, Cecilia Vial

Viruses. 2019 Aug; 11(8): 680. Published online 2019 Jul 25. doi: 10.3390/v11080680

PMCID:: PMC6723883

Abstract Article PDF–1.9M

Select item 669122911.

Complement factor H-related 3 overexpression affects hepatocellular carcinoma proliferation and apoptosis

Hong Liu, Ligang Zhang, Pengyan Wang

Mol Med Rep. 2019 Sep; 20(3): 2694–2702. Published online 2019 Jul 23. doi: 10.3892/mmr.2019.10514

PMCID:: PMC6691229

Abstract Article PDF–865K

Select item 592849612.

High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B

Richard B. Pouw, Irene Gómez Delgado, Alberto López Lera, Santiago Rodríguez de Córdoba, Diana Wouters, Taco W. Kuijpers, Pilar Sánchez-Corral

Front Immunol. 2018; 9: 848. Published online 2018 Apr 24. doi: 10.3389/fimmu.2018.00848

Correction in:: Front Immunol. 2019; 10: 3073.

PMCID:: PMC5928496

Abstract Article PDF–1.7M

Select item 579106113.

Deletion Variants of CFHR1 and CFHR3 Associate with Mesangial Immune Deposits but Not with Progression of IgA Nephropathy

Perrine Jullien, Blandine Laurent, Guillaume Claisse, Ingrid Masson, Miriana Dinic, Damien Thibaudin, Francois Berthoux, Eric Alamartine, Christophe Mariat, Nicolas Maillard

J Am Soc Nephrol. 2018 Feb; 29(2): 661–669. Published online 2017 Dec 7. doi: 10.1681/ASN.2017010019

PMCID:: PMC5791061

Abstract Article

Select item 553161114.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 531106015.

Complement regulatory proteins CFHR1 and CFHR3 and patient response to anti-CD20 monoclonal antibody therapy

Laura M. Rogers, Sarah L. Mott, Brian J. Smith, Brian K. Link, Deniz Sahin, George J. Weiner

Clin Cancer Res. Author manuscript; available in PMC 2018 Feb 15.

Published in final edited form as: Clin Cancer Res. 2017 Feb 15; 23(4): 954–961. Published online 2016 Aug 15. doi: 10.1158/1078-0432.CCR-16-1275

PMCID:: PMC5311060

Abstract Article PDF–1.3M

Select item 504267316.

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese

Jingyuan Xie, Krzysztof Kiryluk, Yifu Li, Nikol Mladkova, Li Zhu, Ping Hou, Hong Ren, Weiming Wang, Hong Zhang, Nan Chen, Ali G. Gharavi

J Am Soc Nephrol. 2016 Oct; 27(10): 3187–3194. Published online 2016 Mar 3. doi: 10.1681/ASN.2015111210

PMCID:: PMC5042673

Abstract Article

Select item 488410217.

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

Rachel C. Challis, Geisilaine S.R. Araujo, Edwin K.S. Wong, Holly E. Anderson, Atif Awan, Anthony M. Dorman, Mary Waldron, Valerie Wilson, Vicky Brocklebank, Lisa Strain, B. Paul Morgan, Claire L. Harris, Kevin J. Marchbank, Timothy H.J. Goodship, David Kavanagh

J Am Soc Nephrol. 2016 Jun; 27(6): 1617–1624. Published online 2015 Oct 21. doi: 10.1681/ASN.2015010100

PMCID:: PMC4884102

Abstract Article

Select item 488405618.

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

Abstract Article PDF–322K

Select item 464794119.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 441375520.

Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy

Li Zhu, Ya-Ling Zhai, Feng-Mei Wang, Ping Hou, Ji-Cheng Lv, Da-Min Xu, Su-Fang Shi, Li-Jun Liu, Feng Yu, Ming-Hui Zhao, Jan Novak, Ali G. Gharavi, Hong Zhang

J Am Soc Nephrol. 2015 May; 26(5): 1195–1204. Published online 2014 Sep 9. doi: 10.1681/ASN.2014010096

PMCID:: PMC4413755

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