Publications:

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Genetic Risk in Families with Age-Related Macular Degeneration.

Ophthalmology Science

de Breuk, Anita A; Lechanteur, Yara T E YTE; Heesterbeek, Thomas J TJ; Fauser, Sascha S; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2021-12

Variant appearance in text: CFI: 148C>G; Pro50Ala

PubMed Link: 36246952

Variant Present in the following documents:

• mmc7.pdf

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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: 148C>G; Pro50Ala

PubMed Link: 35619721

Variant Present in the following documents:

• Main text
• fimmu-13-866330.pdf

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Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Human Molecular Genetics

Tzoumas, Nikolaos N; Kavanagh, David D; Cordell, Heather J HJ; Lotery, Andrew J AJ; Patel, Praveen J PJ; Steel, David H DH

Publication Date: 2022-08-23

Variant appearance in text: CFI: 148C>G; P50A; rs144082872

PubMed Link: 35285476

Variant Present in the following documents:

• Main text
• supplemental_table_1_ddac060.pdf
• supplemental_table_4_ddac060.pdf
• supplemental_appendix_1_ddac060.pdf
• ddac060.pdf

View BVdb publication page

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

Frontiers In Immunology

de Jong, Sarah S; de Breuk, Anita A; Bakker, Bjorn B; Katti, Suresh S; Hoyng, Carel B CB; Nilsson, Sara C SC; Blom, Anna M AM; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI; Volokhina, Elena B EB

Publication Date: 2021

Variant appearance in text: rs144082872

PubMed Link: 35069568

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fimmu-12-789897.pdf

View BVdb publication page

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C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.

Blood Advances

Aiello, Sistiana S; Gastoldi, Sara S; Galbusera, Miriam M; Ruggenenti, Piero P; Portalupi, Valentina V; Rota, Stefano S; Rubis, Nadia N; Liguori, Lucia L; Conti, Sara S; Tironi, Matteo M; Gamba, Sara S; Santarsiero, Donata D; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2022-01-08

Variant appearance in text: CFI: P50A

PubMed Link: 34852172

Variant Present in the following documents:

• advancesADV2021005246.pdf

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Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

Jama Ophthalmology

de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB

Publication Date: 2021-11-01

Variant appearance in text: CFI: Pro50Ala

PubMed Link: 34647987

Variant Present in the following documents:

• jamaophthalmol-e214102-s001.pdf

View BVdb publication page

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

Human Mutation

Khan, Adnan H AH; Sutton, Janice J; Cree, Angela J AJ; Khandhadia, Samir S; De Salvo, Gabriella G; Tobin, John J; Prakash, Priya P; Arora, Rashi R; Amoaku, Winfried W; Charbel Issa, Peter P; MacLaren, Robert E RE; Bishop, Paul N PN; Peto, Tunde T; Mohamed, Quresh Q; Steel, David H DH; Sivaprasad, Sobha S; Bailey, Clare C; Menon, Geeta G; Kavanagh, David D; Lotery, Andrew J AJ

Publication Date: 2021-09

Variant appearance in text: CFI: 148C>G; Pro50Ala

PubMed Link: 34153144

Variant Present in the following documents:

• Main text
• HUMU-42-1139.pdf

View BVdb publication page

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Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.

Kidney International Reports

Timmermans, Sjoerd A M E G SAMEG; Damoiseaux, Jan G M C JGMC; Werion, Alexis A; Reutelingsperger, Chris P CP; Morelle, Johann J; van Paassen, Pieter P

Publication Date: 2021-04

Variant appearance in text: CFI: 148C>G; P50A

PubMed Link: 33912760

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome.

Frontiers In Immunology

Gómez Delgado, Irene I; Corvillo, Fernando F; Nozal, Pilar P; Arjona, Emilia E; Madrid, Álvaro Á; Melgosa, Marta M; Bravo, Juan J; Szilágyi, Ágnes Á; Csuka, Dorottya D; Veszeli, Nóra N; Prohászka, Zoltán Z; Sánchez-Corral, Pilar P

Publication Date: 2021

Variant appearance in text: CFI: 148C>G; Pro50Ala

PubMed Link: 33777036

Variant Present in the following documents:

• Main text
• fimmu-12-641656.pdf

View BVdb publication page

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Complement in Secondary Thrombotic Microangiopathy.

Kidney International Reports

Palma, Lilian Monteiro Pereira LMP; Sridharan, Meera M; Sethi, Sanjeev S

Publication Date: 2021-01

Variant appearance in text: CFI: Pro50Ala

PubMed Link: 33102952

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.

Translational Vision Science & Technology

Java, Anuja A; Baciu, Peter P; Widjajahakim, Rafael R; Sung, Yun Ju YJ; Yang, Jae J; Kavanagh, David D; Atkinson, John J; Seddon, Johanna J

Publication Date: 2020-08

Variant appearance in text: CFI: P50A

PubMed Link: 32908800

Variant Present in the following documents:

• Main text
• tvst-9-9-37.pdf

View BVdb publication page

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Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Hallam, Thomas M TM; Marchbank, Kevin J KJ; Harris, Claire L CL; Osmond, Clive C; Shuttleworth, Victoria G VG; Griffiths, Helen H; Cree, Angela J AJ; Kavanagh, David D; Lotery, Andrew J AJ

Publication Date: 2020-06-03

Variant appearance in text: CFI: P50A

PubMed Link: 32516404

Variant Present in the following documents:

• Main text
• iovs-61-6-18.pdf

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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: Pro50Ala; rs144082872

PubMed Link: 32510551

Variant Present in the following documents:

• Main text
• supp_table_1_ddaa114.xlsx, sheet 1

View BVdb publication page

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Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine

Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2019-12-17

Variant appearance in text: CFI: 148C>G; Pro50Ala; rs144082872

PubMed Link: 31847883

Variant Present in the following documents:

• 13073_2019_702_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension.

Journal Of The American Society Of Nephrology : Jasn

Timmermans, Sjoerd A M E G SAMEG; Abdul-Hamid, Myrurgia A MA; Potjewijd, Judith J; Theunissen, Ruud O M F I H ROMFIH; Damoiseaux, Jan G M C JGMC; Reutelingsperger, Chris P CP; van Paassen, Pieter P; ,

Publication Date: 2018-08

Variant appearance in text: CFI: P50A

PubMed Link: 29858281

Variant Present in the following documents:

• Main text

View BVdb publication page

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De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.

Case Reports In Nephrology

Devresse, Arnaud A; de Meyer, Martine M; Aydin, Selda S; Dahan, Karin K; Kanaan, Nada N

Publication Date: 2018

Variant appearance in text: CFI: 148C>G

PubMed Link: 29732228

Variant Present in the following documents:

• Main text
• CRIN2018-1727986.pdf

View BVdb publication page

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Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.

Investigative Ophthalmology & Visual Science

Seddon, Johanna M JM

Publication Date: 2017-12-01

Variant appearance in text: CFI: P50A

PubMed Link: 29288272

Variant Present in the following documents:

• Main text
• i1552-5783-58-14-6513.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: P50A; rs144082872

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: P50A

PubMed Link: 25037630

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P50A

PubMed Link: 24161037

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: P50A; rs144082872

PubMed Link: 24036952

Variant Present in the following documents:

• Main text
• nihms-512112.pdf
• NIHMS512112-supplement-1.pdf

View BVdb publication page

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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: P50A; rs144082872

PubMed Link: 23431077

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Pro50Ala

PubMed Link: 23307876

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.

Journal Of Clinical Immunology

Broderick, Lori L; Gandhi, Chhavi C; Mueller, James L JL; Putnam, Christopher D CD; Shayan, Katayoon K; Giclas, Patricia C PC; Peterson, Karin S KS; Aceves, Seema S SS; Sheets, Robert M RM; Peterson, Bradley M BM; Newbury, Robert O RO; Hoffman, Hal M HM; Bastian, John F JF

Publication Date: 2013-01

Variant appearance in text: CFI: P50A

PubMed Link: 22926405

Variant Present in the following documents:

• Main text

View BVdb publication page

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