Publications:

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Sustained Response to Eculizumab in a Patient With COVID-19-Associated Acute Thrombotic Microangiopathy of the Allograft Kidney: A Case Report.

Transplantation Proceedings

Rehman, Shehzad S; de Mattos, Angelo A; Stack, Megan M; Norman, Douglas D; Zapata, Sarah S; Wang, Pei Li PL; Mansoor, Abdul Hai AH; Kung, Vanderlene V; Andeen, Nicole K NK

Publication Date: 2023-04-06

Variant appearance in text: CFI: 560G>A

PubMed Link: 37105825

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Complement Factor I Variants in Complement-Mediated Renal Diseases.

Frontiers In Immunology

Zhang, Yuzhou Y; Goodfellow, Renee X RX; Ghiringhelli Borsa, Nicolo N; Dunlop, Hannah C HC; Presti, Stephen A SA; Meyer, Nicole C NC; Shao, Dingwu D; Roberts, Sarah M SM; Jones, Michael B MB; Pitcher, Gabriella R GR; Taylor, Amanda O AO; Nester, Carla M CM; Smith, Richard J H RJH

Publication Date: 2022

Variant appearance in text: CFI: 560G>A; Arg187Gln

PubMed Link: 35619721

Variant Present in the following documents:

• Main text
• fimmu-13-866330.pdf

View BVdb publication page

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Complement Gene Variant Effect on Relapse of Complement-Mediated Thrombotic Microangiopathy after Eculizumab Cessation.

Blood Advances

Acosta-Medina, Aldo A AA; Moyer, Ann M AM; Go, Ronald S RS; Willrich, Maria Alice V MAV; Fervenza, Fernando C FC; Leung, Nelson N; Bourlon, Christianne C; Winters, Jeffrey L JL; Spears, Grant M GM; Bryant, Sandra C SC; Sridharan, Meera M

Publication Date: 2022-05-09

Variant appearance in text: CFI: 560G>A; Arg187Gln

PubMed Link: 35533258

Variant Present in the following documents:

• BLOODA_ADV-2021-006416-mmc1.pdf

View BVdb publication page

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Genetic associations of protein-coding variants in human disease.

Nature

Sun, Benjamin B BB; Kurki, Mitja I MI; Foley, Christopher N CN; Mechakra, Asma A; Chen, Chia-Yen CY; Marshall, Eric E; Wilk, Jemma B JB; , ; Chahine, Mohamed M; Chevalier, Philippe P; Christé, Georges G; , ; Palotie, Aarno A; Daly, Mark J MJ; Runz, Heiko H

Publication Date: 2022-03

Variant appearance in text: CFI: R187Q

PubMed Link: 35197637

Variant Present in the following documents:

• Main text

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CFI: R187Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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

Human Molecular Genetics

de Jong, Sarah S; Volokhina, Elena B EB; de Breuk, Anita A; Nilsson, Sara C SC; de Jong, Eiko K EK; van der Kar, Nicole C A J NCAJ; Bakker, Bjorn B; Hoyng, Carel B CB; van den Heuvel, Lambert P LP; Blom, Anna M AM; den Hollander, Anneke I AI

Publication Date: 2020-08-11

Variant appearance in text: CFI: Arg187Gln; rs143366614

PubMed Link: 32510551

Variant Present in the following documents:

• Main text
• supp_table_1_ddaa114.xlsx, sheet 1
• ddaa114.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CFI: 560G>A; Arg187Gln; rs143366614

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Tan, Perciliz L PL; Garrett, Melanie E ME; Willer, Jason R JR; Campochiaro, Peter A PA; Campochiaro, Betsy B; Zack, Donald J DJ; Ashley-Koch, Allison E AE; Katsanis, Nicholas N

Publication Date: 2017-03-01

Variant appearance in text: CFI: R187Q

PubMed Link: 28282489

Variant Present in the following documents:

• Main text
• i1552-5783-58-3-1570.pdf

View BVdb publication page

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

Human Molecular Genetics

Kavanagh, David D; Yu, Yi Y; Schramm, Elizabeth C EC; Triebwasser, Michael M; Wagner, Erin K EK; Raychaudhuri, Soumya S; Daly, Mark J MJ; Atkinson, John P JP; Seddon, Johanna M JM

Publication Date: 2015-07-01

Variant appearance in text: CFI: R187Q; rs143366614

PubMed Link: 25788521

Variant Present in the following documents:

View BVdb publication page

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Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.

Blood

Noris, Marina M; Galbusera, Miriam M; Gastoldi, Sara S; Macor, Paolo P; Banterla, Federica F; Bresin, Elena E; Tripodo, Claudio C; Bettoni, Serena S; Donadelli, Roberta R; Valoti, Elisabetta E; Tedesco, Francesco F; Amore, Alessandro A; Coppo, Rosanna R; Ruggenenti, Piero P; Gotti, Eliana E; Remuzzi, Giuseppe G

Publication Date: 2014-09-11

Variant appearance in text: CFI: R187Q

PubMed Link: 25037630

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: CFI: R187Q; rs143366614

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-1.pdf

View BVdb publication page

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