Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFH: 3590T>C; Val1197Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The complement system and autoimmune diseases.

Chronic Diseases And Translational Medicine

Jia, Changhao C; Tan, Ying Y; Zhao, Minghui M

Publication Date: 2022-09

Variant appearance in text: CFH: V1197A

PubMed Link: 36161202

Variant Present in the following documents:

• Main text
• CDT3-8-184.pdf

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Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Immunological Reviews

Rodríguez de Córdoba, Santiago S

Publication Date: 2022-09-11

Variant appearance in text: CFH: V1197A

PubMed Link: 36089777

Variant Present in the following documents:

• Main text
• IMR-313-71.pdf

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Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.

Balkan Journal Of Medical Genetics : Bjmg

Ersoy Dursun, F F; Yesil, G G; Sasak, G G; Dursin, H H

Publication Date: 2021-06

Variant appearance in text: CFH: V1197A

PubMed Link: 34447663

Variant Present in the following documents:

• Main text
• bjmg-24-081.pdf

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Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood

Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S

Publication Date: 2021-12-02

Variant appearance in text: CFH: V1197A

PubMed Link: 34189567

Variant Present in the following documents:

• 10.1182-2021012037_bloodbld2021012037-suppl1.pdf
• bloodBLD2021012037-suppl1.pdf

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Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Kidney International Reports

Ardissino, Gianluigi G; Longhi, Selena S; Porcaro, Luigi L; Pintarelli, Giulia G; Strumbo, Bice B; Capone, Valentina V; Cresseri, Donata D; Loffredo, Giulia G; Tel, Francesca F; Salardi, Stefania S; Sgarbanti, Martina M; Martelli, Laura L; Rodrigues, Evangeline Millicent EM; Borsa-Ghiringhelli, Nicolò N; Montini, Giovanni G; Seia, Manuela M; Cugno, Massimo M; Carfagna, Fabio F; Consonni, Dario D; Tedeschi, Silvana S

Publication Date: 2021-06

Variant appearance in text: CFH: 3590T>C; Val1197Ala

PubMed Link: 34169201

Variant Present in the following documents:

• mmc1.pdf

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Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient.

Frontiers In Immunology

Bouwmeester, Romy N RN; Ter Avest, Mendy M; Wijnsma, Kioa L KL; Duineveld, Caroline C; Ter Heine, Rob R; Volokhina, Elena B EB; Van Den Heuvel, Lambertus P W J LPWJ; Wetzels, Jack F M JFM; van de Kar, Nicole C A J NCAJ

Publication Date: 2020

Variant appearance in text: CFH: Val1197Ala

PubMed Link: 33519821

Variant Present in the following documents:

• Main text
• fimmu-11-612706.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CFH: 3590T>C; Val1197Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Journal Of Clinical Medicine

Aigner, Christof C; Gaggl, Martina M; Kain, Renate R; Prohászka, Zoltán Z; Garam, Nóra N; Csuka, Dorottya D; Sunder-Plassmann, Raute R; Piggott, Leah Charlotte LC; Haninger-Vacariu, Natalja N; Schmidt, Alice A; Sunder-Plassmann, Gere G

Publication Date: 2020-03-31

Variant appearance in text: CFH: V1197A

PubMed Link: 32244370

Variant Present in the following documents:

• jcm-09-00964-s001.pdf

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Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances

Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J

Publication Date: 2020-02

Variant appearance in text: CFH: V1197A

PubMed Link: 32133402

Variant Present in the following documents:

• aay4211_Table_S2.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFH: 3590T>C; Val1197Ala; rs460184

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Potentiation of complement regulator factor H protects human endothelial cells from complement attack in aHUS sera.

Blood Advances

Pouw, Richard B RB; Brouwer, Mieke C MC; de Gast, Marlon M; van Beek, Anna E AE; van den Heuvel, Lambertus P LP; Schmidt, Christoph Q CQ; van der Ende, Arie A; Sánchez-Corral, Pilar P; Kuijpers, Taco W TW; Wouters, Diana D

Publication Date: 2019-02-26

Variant appearance in text: CFH: Val1197Ala

PubMed Link: 30804016

Variant Present in the following documents:

• Main text

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Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family.

Frontiers In Immunology

Sánchez-Corral, Pilar P; Pouw, Richard B RB; López-Trascasa, Margarita M; Józsi, Mihály M

Publication Date: 2018

Variant appearance in text: CFH: V1197A

PubMed Link: 30050540

Variant Present in the following documents:

• Main text
• fimmu-09-01607.pdf

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Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Clinical Genetics

Geerlings, M J MJ; Volokhina, E B EB; de Jong, E K EK; van de Kar, N N; Pauper, M M; Hoyng, C B CB; van den Heuvel, L P LP; den Hollander, A I AI

Publication Date: 2018-10

Variant appearance in text: HUS: Val1197Ala

PubMed Link: 29888403

Variant Present in the following documents:

• Main text
• CGE-94-330.pdf

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Diseases of complement dysregulation-an overview.

Seminars In Immunopathology

Wong, Edwin K S EKS; Kavanagh, David D

Publication Date: 2018-01

Variant appearance in text: CFH: V1197A

PubMed Link: 29327071

Variant Present in the following documents:

• Main text

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Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation.

Journal Of Korean Medical Science

Kim, Sejin S; Park, Eujin E; Min, Sang Il SI; Yi, Nam Joon NJ; Ha, Jongwon J; Ha, Il Soo IS; Cheong, Hae Il HI; Kang, Hee Gyung HG

Publication Date: 2018-01-01

Variant appearance in text: CFH: 3590T>C

PubMed Link: 29215813

Variant Present in the following documents:

• Main text
• jkms-33-e4.pdf

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Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.

The Journal Of Biological Chemistry

Kerr, Heather H; Wong, Edwin E; Makou, Elisavet E; Yang, Yi Y; Marchbank, Kevin K; Kavanagh, David D; Richards, Anna A; Herbert, Andrew P AP; Barlow, Paul N PN

Publication Date: 2017-08-11

Variant appearance in text: CFH: V1197A

PubMed Link: 28637873

Variant Present in the following documents:

• zbc13345.pdf

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Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Bruel, Alexandra A; Kavanagh, David D; Noris, Marina M; Delmas, Yahsou Y; Wong, Edwin K S EKS; Bresin, Elena E; Provôt, François F; Brocklebank, Vicky V; Mele, Caterina C; Remuzzi, Giuseppe G; Loirat, Chantal C; Frémeaux-Bacchi, Véronique V; Fakhouri, Fadi F

Publication Date: 2017-08-07

Variant appearance in text: CFH: Val1197Ala

PubMed Link: 28596415

Variant Present in the following documents:

• Main text

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Influence of CFH gene on symptom severity of schizophrenia.

Neuropsychiatric Disease And Treatment

Zhang, Chen C; Lv, Qinyu Q; Fan, Weixing W; Tang, Wei W; Yi, Zhenghui Z

Publication Date: 2017

Variant appearance in text: CFH: V1197A; rs460184

PubMed Link: 28293111

Variant Present in the following documents:

• Main text
• ndt-13-697.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: ARMD4: V1197A; rs460184

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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.

Journal Of The American Society Of Nephrology : Jasn

Challis, Rachel C RC; Araujo, Geisilaine S R GS; Wong, Edwin K S EK; Anderson, Holly E HE; Awan, Atif A; Dorman, Anthony M AM; Waldron, Mary M; Wilson, Valerie V; Brocklebank, Vicky V; Strain, Lisa L; Morgan, B Paul BP; Harris, Claire L CL; Marchbank, Kevin J KJ; Goodship, Timothy H J TH; Kavanagh, David D

Publication Date: 2016-06

Variant appearance in text: CFH: V1197A

PubMed Link: 26490391

Variant Present in the following documents:

• Main text

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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: CFH: V1197A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.

The Journal Of Biological Chemistry

Bhattacharjee, Arnab A; Reuter, Stefanie S; Trojnár, Eszter E; Kolodziejczyk, Robert R; Seeberger, Harald H; Hyvärinen, Satu S; Uzonyi, Barbara B; Szilágyi, Ágnes Á; Prohászka, Zoltán Z; Goldman, Adrian A; Józsi, Mihály M; Jokiranta, T Sakari TS

Publication Date: 2015-04-10

Variant appearance in text: CFH: V1197A

PubMed Link: 25659429

Variant Present in the following documents:

• Main text
• zbc9500.pdf

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A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.

Journal Of The American Society Of Nephrology : Jasn

Valoti, Elisabetta E; Alberti, Marta M; Tortajada, Agustin A; Garcia-Fernandez, Jesus J; Gastoldi, Sara S; Besso, Luca L; Bresin, Elena E; Remuzzi, Giuseppe G; Rodriguez de Cordoba, Santiago S; Noris, Marina M

Publication Date: 2015-01

Variant appearance in text: CFH: Val1197Ala

PubMed Link: 24904082

Variant Present in the following documents:

• Main text

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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: CFH: V1197A

PubMed Link: 24161037

Variant Present in the following documents:

• Main text

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Complement therapy in atypical haemolytic uraemic syndrome (aHUS).

Molecular Immunology

Wong, Edwin K S EK; Goodship, Tim H J TH; Kavanagh, David D

Publication Date: 2013-12-15

Variant appearance in text: CFH: V1197A

PubMed Link: 23810412

Variant Present in the following documents:

• Main text

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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: CFH: V1197A

PubMed Link: 23431077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Nester, Carla C; Stewart, Zoe Z; Myers, David D; Jetton, Jennifer J; Nair, Ramesh R; Reed, Alan A; Thomas, Christie C; Smith, Richard R; Brophy, Patrick P

Publication Date: 2011-06

Variant appearance in text: CFH: 3590T>C; V1197A

PubMed Link: 21617085

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics and complement in atypical HUS.

Pediatric Nephrology (Berlin, Germany)

Kavanagh, David D; Goodship, Tim T

Publication Date: 2010-12

Variant appearance in text: HUS: V1197A

PubMed Link: 20526633

Variant Present in the following documents:

• Main text
• 467_2010_Article_1555.pdf

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Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Journal Of The American Society Of Nephrology : Jasn

Fakhouri, Fadi F; Roumenina, Lubka L; Provot, François F; Sallée, Marion M; Caillard, Sophie S; Couzi, Lionel L; Essig, Marie M; Ribes, David D; Dragon-Durey, Marie-Agnès MA; Bridoux, Frank F; Rondeau, Eric E; Frémeaux-Bacchi, Veronique V

Publication Date: 2010-05

Variant appearance in text: CFH: V1197A

PubMed Link: 20203157

Variant Present in the following documents:

• Main text

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Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome.

The Journal Of Biological Chemistry

Lehtinen, Markus J MJ; Rops, Angelique L AL; Isenman, David E DE; van der Vlag, Johan J; Jokiranta, T Sakari TS

Publication Date: 2009-06-05

Variant appearance in text: HF1: V1197A

PubMed Link: 19351878

Variant Present in the following documents:

• Main text

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Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.

Pediatric Nephrology (Berlin, Germany)

Davin, Jean Claude JC; Strain, Lisa L; Goodship, Tim H J TH

Publication Date: 2008-09

Variant appearance in text: HUS: V1197A

PubMed Link: 18483746

Variant Present in the following documents:

• Main text

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Translational mini-review series on complement factor H: structural and functional correlations for factor H.

Clinical And Experimental Immunology

Schmidt, C Q CQ; Herbert, A P AP; Hocking, H G HG; Uhrín, D D; Barlow, P N PN

Publication Date: 2008-01

Variant appearance in text: CFH: V1197A

PubMed Link: 18081691

Variant Present in the following documents:

• Main text

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Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene.

Plos Medicine

Noris, Marina M; Remuzzi, Giuseppe G

Publication Date: 2006-10

Variant appearance in text: CFH: 3590T>C

PubMed Link: 17076562

Variant Present in the following documents:

• Main text

View BVdb publication page

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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Plos Medicine

Venables, Julian P JP; Strain, Lisa L; Routledge, Danny D; Bourn, David D; Powell, Helen M HM; Warwicker, Paul P; Diaz-Torres, Martha L ML; Sampson, Anne A; Mead, Paul P; Webb, Michelle M; Pirson, Yves Y; Jackson, Michael S MS; Hughes, Anne A; Wood, Katrina M KM; Goodship, Judith A JA; Goodship, Timothy H J TH

Publication Date: 2006-10

Variant appearance in text: CFH: 3590T>C

PubMed Link: 17076561

Variant Present in the following documents:

• Main text
• pmed.0030431.pdf

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Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Blood

Caprioli, Jessica J; Noris, Marina M; Brioschi, Simona S; Pianetti, Gaia G; Castelletti, Federica F; Bettinaglio, Paola P; Mele, Caterina C; Bresin, Elena E; Cassis, Linda L; Gamba, Sara S; Porrati, Francesca F; Bucchioni, Sara S; Monteferrante, Giuseppe G; Fang, Celia J CJ; Liszewski, M K MK; Kavanagh, David D; Atkinson, John P JP; Remuzzi, Giuseppe G; ,

Publication Date: 2006-08-15

Variant appearance in text: CFH: V1197A

PubMed Link: 16621965

Variant Present in the following documents:

• Main text

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Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome.

The Embo Journal

Jokiranta, T Sakari TS; Jaakola, Veli-Pekka VP; Lehtinen, Markus J MJ; Pärepalo, Maria M; Meri, Seppo S; Goldman, Adrian A

Publication Date: 2006-04-19

Variant appearance in text: HUS: V1197A

PubMed Link: 16601698

Variant Present in the following documents:

• Main text

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Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

American Journal Of Human Genetics

Sánchez-Corral, Pilar P; Pérez-Caballero, David D; Huarte, Olatz O; Simckes, Ari M AM; Goicoechea, Elena E; López-Trascasa, Margarita M; de Córdoba, Santiago Rodríguez SR

Publication Date: 2002-12

Variant appearance in text: HUS: V1197A

PubMed Link: 12424708

Variant Present in the following documents:

• Main text

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Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

American Journal Of Human Genetics

Richards, A A; Buddles, M R MR; Donne, R L RL; Kaplan, B S BS; Kirk, E E; Venning, M C MC; Tielemans, C L CL; Goodship, J A JA; Goodship, T H TH

Publication Date: 2001-02

Variant appearance in text: HUS: V1197A

PubMed Link: 11170896

Variant Present in the following documents:

• Main text

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Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

American Journal Of Human Genetics

Pérez-Caballero, D D; González-Rubio, C C; Gallardo, M E ME; Vera, M M; López-Trascasa, M M; Rodríguez de Córdoba, S S; Sánchez-Corral, P P

Publication Date: 2001-02

Variant appearance in text: HF1: V1197A

PubMed Link: 11170895

Variant Present in the following documents:

• Main text

View BVdb publication page

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