Publications:

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Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.

The American Journal Of Case Reports

Korzycka, Joanna J; Pawłowicz-Szlarska, Ewa E; Masajtis-Zagajewska, Anna A; Nowicki, Michał M

Publication Date: 2022-10-28

Variant appearance in text: CFB: 1598A>G; Lys533Arg

PubMed Link: 36306276

Variant Present in the following documents:

• amjcaserep-23-e936565.pdf

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Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Current Issues In Molecular Biology

Gavriilaki, Eleni E; Tsiftsoglou, Stefanos A SA; Touloumenidou, Tasoula T; Farmaki, Evangelia E; Panagopoulou, Paraskevi P; Michailidou, Elissavet E; Koravou, Evaggelia-Evdoxia EE; Mavrikou, Ioulia I; Iosifidis, Elias E; Tsiatsiou, Olga O; Papadimitriou, Eleni E; Papadopoulou-Alataki, Efimia E; Papayanni, Penelope Georgia PG; Varelas, Christos C; Kokkoris, Styliani S; Papalexandri, Apostolia A; Fotoulaki, Maria M; Galli-Tsinopoulou, Assimina A; Zafeiriou, Dimitrios D; Roilides, Emmanuel E; Sakellari, Ioanna I; Anagnostopoulos, Achilles A; Tragiannidis, Athanasios A

Publication Date: 2022-06-28

Variant appearance in text: rs149101394

PubMed Link: 35877417

Variant Present in the following documents:

• cimb-44-00193.pdf

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: CFB: 1598A>G; Lys533Arg

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1
• 10875_2021_Article_1183.pdf

View BVdb publication page

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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: CFB: Lys533Arg

PubMed Link: 34647987

Variant Present in the following documents:

• jamaophthalmol-e214102-s001.pdf

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Long-Term Efficacy and Safety of the Long-Acting Complement C5 Inhibitor Ravulizumab for the Treatment of Atypical Hemolytic Uremic Syndrome in Adults.

Kidney International Reports

Barbour, Thomas T; Scully, Marie M; Ariceta, Gema G; Cataland, Spero S; Garlo, Katherine K; Heyne, Nils N; Luque, Yosu Y; Menne, Jan J; Miyakawa, Yoshitaka Y; Yoon, Sung-Soo SS; Kavanagh, David D; ,

Publication Date: 2021-06

Variant appearance in text: CFB: Lys533Arg

PubMed Link: 34169200

Variant Present in the following documents:

• mmc1.pdf

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Atypical hemolytic uremic syndrome and acute tubular necrosis induced by complement factor B gene (CFB) mutation: A case report.

Medicine

Wu, Hao H; Su, Sensen S; Li, Lin L; Zhang, Li L

Publication Date: 2021-03-19

Variant appearance in text: CFB: 1598A>G

PubMed Link: 33725982

Variant Present in the following documents:

• Main text
• medi-100-e25069.pdf

View BVdb publication page

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Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review.

Indian Journal Of Nephrology

Chhakchhuak, Malsawmkima M; Agarwal, Jony J

Publication Date: 2020

Variant appearance in text: CFB: 1598A>G; Lys533Arg

PubMed Link: 33273796

Variant Present in the following documents:

• Main text

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs149101394

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: CFB: K533R

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Prognostic utility of ADAMTS13 activity for the atypical hemolytic uremic syndrome (aHUS) and comparison of complement serology between aHUS and thrombotic thrombocytopenic purpura.

Blood Research

Oh, Jisu J; Oh, Doyeun D; Lee, Seon Ju SJ; Kim, Jeong Oh JO; Kim, Nam Keun NK; Chong, So Young SY; Huh, Ji Young JY; Baker, Ross I RI; ,

Publication Date: 2019-09

Variant appearance in text: CFB: Lys533Arg

PubMed Link: 31730685

Variant Present in the following documents:

• br-54-218-s001.pdf
• br-54-218.pdf
• br-54-218-s002.pdf
• br-54-218-s003.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CFB: 1598A>G; Lys533Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: CFB: K533R; rs149101394

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

View BVdb publication page

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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Research And Practice In Thrombosis And Haemostasis

Fidalgo, Teresa T; Martinho, Patrícia P; Pinto, Catarina S CS; Oliveira, Ana C AC; Salvado, Ramon R; Borràs, Nina N; Coucelo, Margarida M; Manco, Licínio L; Maia, Tabita T; Mendes, M João MJ; Del Orbe Barreto, Rafael R; Corrales, Irene I; Vidal, Francisco F; Ribeiro, M Letícia ML

Publication Date: 2017-07

Variant appearance in text: CFB: 1598A>G; Lys533Arg; rs149101394

PubMed Link: 30046676

Variant Present in the following documents:

• Main text
• RTH2-1-69-s004.pdf
• RTH2-1-69.pdf

View BVdb publication page

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Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Journal Of Immunology (Baltimore, Md. : 1950)

Osborne, Amy J AJ; Breno, Matteo M; Borsa, Nicolo Ghiringhelli NG; Bu, Fengxiao F; Frémeaux-Bacchi, Véronique V; Gale, Daniel P DP; van den Heuvel, Lambertus P LP; Kavanagh, David D; Noris, Marina M; Pinto, Sheila S; Rallapalli, Pavithra M PM; Remuzzi, Giuseppe G; Rodríguez de Cordoba, Santiago S; Ruiz, Angela A; Smith, Richard J H RJH; Vieira-Martins, Paula P; Volokhina, Elena E; Wilson, Valerie V; Goodship, Timothy H J THJ; Perkins, Stephen J SJ

Publication Date: 2018-04-01

Variant appearance in text: CFB: 1598A>G; Lys533Arg

PubMed Link: 29500241

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement factor B mutation-associated aHUS and myocardial infarction.

Bmj Case Reports

Noronha, Natália N; Costa, Filipa Dias FD; Dias, Andrea A; Dinis, Alexandra A

Publication Date: 2017-07-14

Variant appearance in text: CFB: Lys533Arg

PubMed Link: 28710236

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: rs149101394

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult: a case report.

Journal Of Medical Case Reports

Zhu, Ziqiang Z; Chen, Hui H; Gill, Rupinder R; Wang, Jenchin J; Spitalewitz, Samuel S; Gotlieb, Vladimir V

Publication Date: 2016-02-24

Variant appearance in text: CFB: 1598A>G; K533R

PubMed Link: 26911616

Variant Present in the following documents:

• Main text
• 13256_2016_Article_825.pdf

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: CFB: 1598A>G; K533R; rs149101394

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFB: K533R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?

Journal Of The American Society Of Nephrology : Jasn

Marinozzi, Maria Chiara MC; Vergoz, Laura L; Rybkine, Tania T; Ngo, Stephanie S; Bettoni, Serena S; Pashov, Anastas A; Cayla, Mathieu M; Tabarin, Fanny F; Jablonski, Mathieu M; Hue, Christophe C; Smith, Richard J RJ; Noris, Marina M; Halbwachs-Mecarelli, Lise L; Donadelli, Roberta R; Fremeaux-Bacchi, Veronique V; Roumenina, Lubka T LT

Publication Date: 2014-09

Variant appearance in text: rs149101394

PubMed Link: 24652797

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: rs149101394

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: CFB: Lys533Arg; rs149101394

PubMed Link: 23555315

Variant Present in the following documents:

• Main text
• pgen.1003419.pdf

View BVdb publication page

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Analysis of candidate genes for macular telangiectasia type 2.

Molecular Vision

Parmalee, Nancy L NL; Schubert, Carl C; Merriam, Joanna E JE; Allikmets, Kaija K; Bird, Alan C AC; Gillies, Mark C MC; Peto, Tunde T; Figueroa, Maria M; Friedlander, Martin M; Fruttiger, Marcus M; Greenwood, John J; Moss, Stephen E SE; Smith, Lois E H LE; Toomes, Carmel C; Inglehearn, Chris F CF; Allikmets, Rando R

Publication Date: 2010-12-14

Variant appearance in text: CFB: Lys533Arg

PubMed Link: 21179236

Variant Present in the following documents:

• Main text
• mv-v16-2718.pdf

View BVdb publication page

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