Publications:

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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: rs989210294

PubMed Link: 32510551

Variant Present in the following documents:

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

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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: Y459S

PubMed Link: 25788521

Variant Present in the following documents:

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Atypical hemolytic uremic syndrome.

Seminars In Nephrology

Kavanagh, David D; Goodship, Tim H TH; Richards, Anna A

Publication Date: 2013-11

Variant appearance in text: CFI: Y459S

PubMed Link: 24161037

Variant Present in the following documents:

• Main text

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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: Y459S

PubMed Link: 24036952

Variant Present in the following documents:

• Main text
• NIHMS512112-supplement-1.pdf

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Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Journal Of The American Society Of Nephrology : Jasn

Bresin, Elena E; Rurali, Erica E; Caprioli, Jessica J; Sanchez-Corral, Pilar P; Fremeaux-Bacchi, Veronique V; Rodriguez de Cordoba, Santiago S; Pinto, Sheila S; Goodship, Timothy H J TH; Alberti, Marta M; Ribes, David D; Valoti, Elisabetta E; Remuzzi, Giuseppe G; Noris, Marina M; ,

Publication Date: 2013-02

Variant appearance in text: CFI: Y459S

PubMed Link: 23431077

Variant Present in the following documents:

• Main text

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Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Fremeaux-Bacchi, Véronique V; Fakhouri, Fadi F; Garnier, Arnaud A; Bienaimé, Frank F; Dragon-Durey, Marie-Agnès MA; Ngo, Stéphanie S; Moulin, Bruno B; Servais, Aude A; Provot, François F; Rostaing, Lionel L; Burtey, Stéphane S; Niaudet, Patrick P; Deschênes, Georges G; Lebranchu, Yvon Y; Zuber, Julien J; Loirat, Chantal C

Publication Date: 2013-04

Variant appearance in text: CFI: Tyr459Ser

PubMed Link: 23307876

Variant Present in the following documents:

• Main text

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