Publications:

---

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: 3572C>T; Ser1191Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: S1191L

PubMed Link: 36089777

Variant Present in the following documents:

• Main text
• IMR-313-71.pdf

View BVdb publication page

---

Early graft loss due to acute thrombotic microangiopathy accompanied by complement gene variants in living-related kidney transplantation: case series report.

Bmc Nephrology

Wu, Qianqian Q; Tian, Xiaohui X; Gong, Nianqiao N; Zheng, Jin J; Liang, Dandan D; Li, Xue X; Lu, Xia X; Xue, Wujun W; Tian, Puxun P; Wen, Jiqiu J

Publication Date: 2022-07-14

Variant appearance in text: CFH: 3572C>T; S1191L

PubMed Link: 35836191

Variant Present in the following documents:

• Main text
• 12882_2022_Article_2868.pdf

View BVdb publication page

---

A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CFH: 3572C>T; Ser1191Leu

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

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: CFH: 3572C>T; Ser1191Leu

PubMed Link: 35533258

Variant Present in the following documents:

• BLOODA_ADV-2021-006416-mmc1.pdf

View BVdb publication page

---

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: HUS: S1191L

PubMed Link: 34852172

Variant Present in the following documents:

• Main text
• advancesADV2021005246.pdf

View BVdb publication page

---

Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.

Journal Of Molecular Medicine (Berlin, Germany)

Haydock, Ludwig L; Garneau, Alexandre P AP; Tremblay, Laurence L; Yen, Hai-Yun HY; Gao, Hanlin H; Harrisson, Raphaël R; Isenring, Paul P

Publication Date: 2022-02

Variant appearance in text: CFH: Ser1191Leu

PubMed Link: 34714369

Variant Present in the following documents:

• 109_2021_Article_2102.pdf

View BVdb publication page

---

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: HUS: 3572C>T

PubMed Link: 34447663

Variant Present in the following documents:

• Main text
• bjmg-24-081.pdf

View BVdb publication page

---

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: S1191L

PubMed Link: 34189567

Variant Present in the following documents:

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

View BVdb publication page

---

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: 3572C>T; Ser1191Leu

PubMed Link: 34169201

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Pregnancies in kidney transplant recipients with complement gene variant-mediated thrombotic microangiopathy.

Clinical Kidney Journal

Haninger-Vacariu, Natalja N; Aigner, Christof C; Gaggl, Martina M; Kain, Renate R; Prohászka, Zoltán Z; Böhmig, Georg A GA; Sunder-Plassmann, Raute R; Sunder-Plassmann, Gere G; Schmidt, Alice A

Publication Date: 2021-04

Variant appearance in text: CFH: S1191L

PubMed Link: 33841869

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Atypical hemolytic uremic syndrome in Brazil: clinical presentation, genetic findings and outcomes of a case series in adults and children treated with eculizumab.

Clinical Kidney Journal

Palma, Lilian Monteiro Pereira LMP; Eick, Renato George RG; Dantas, Gustavo Coelho GC; Tino, Michele Káren Dos Santos MKDS; de Holanda, Maria Izabel MI; ,

Publication Date: 2021-04

Variant appearance in text: CFH: 3572C>T

PubMed Link: 33841858

Variant Present in the following documents:

• Main text
• sfaa062.pdf

View BVdb publication page

---

Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases.

Blood

Martin Merinero, Héctor H; Subías, Marta M; Pereda, Amaia A; Gómez-Rubio, Elena E; Juana Lopez, Lucia L; Fernandez, Constantino C; Goicoechea de Jorge, Elena E; Martin-Santamaria, Sonsoles S; Cañada, Francisco Javier FJ; Rodríguez de Córdoba, Santiago S

Publication Date: 2021-06-24

Variant appearance in text: CFH: S1191L

PubMed Link: 33651882

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFH: 3572C>T; S1191L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

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: S1191L

PubMed Link: 32244370

Variant Present in the following documents:

• jcm-09-00964-s001.pdf

View BVdb publication page

---

Consensus regarding diagnosis and management of atypical hemolytic uremic syndrome.

The Korean Journal Of Internal Medicine

Lee, Hajeong H; Kang, Eunjeong E; Kang, Hee Gyung HG; Kim, Young Hoon YH; Kim, Jin Seok JS; Kim, Hee-Jin HJ; Moon, Kyung Chul KC; Ban, Tae Hyun TH; Oh, Se Won SW; Jo, Sang Kyung SK; Cho, Heeyeon H; Choi, Bum Soon BS; Hong, Junshik J; Cheong, Hae Il HI; Oh, Doyeun D

Publication Date: 2020-01

Variant appearance in text: CFH: S1191L

PubMed Link: 31935318

Variant Present in the following documents:

• kjim-2019-388.pdf

View BVdb publication page

---

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: CFH: Ser1191Leu

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

View BVdb publication page

---

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: Ser1191Leu

PubMed Link: 30804016

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pathogenesis of Atypical Hemolytic Uremic Syndrome.

Journal Of Atherosclerosis And Thrombosis

Yoshida, Yoko Y; Kato, Hideki H; Ikeda, Yoichiro Y; Nangaku, Masaomi M

Publication Date: 2019-02-01

Variant appearance in text: CFH: S1191L

PubMed Link: 30393246

Variant Present in the following documents:

• Main text
• jat-26-99.pdf

View BVdb publication page

---

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: S1191L

PubMed Link: 30050540

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S1191L

PubMed Link: 29327071

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 3572C>T

PubMed Link: 29215813

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Complement Activation Induces Neutrophil Adhesion and Neutrophil-Platelet Aggregate Formation on Vascular Endothelial Cells.

Kidney International Reports

Riedl, Magdalena M; Noone, Damien G DG; Khan, Meraj A MA; Pluthero, Fred G FG; Kahr, Walter H A WHA; Palaniyar, Nades N; Licht, Christoph C

Publication Date: 2017-01

Variant appearance in text: CFH: 3572C>T

PubMed Link: 29142942

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: S1191L

PubMed Link: 28637873

Variant Present in the following documents:

• Main text
• zbc13345.pdf

View BVdb publication page

---

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: Ser1191Leu

PubMed Link: 28596415

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFH: 3572C>T; Ser1191Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.

International Ophthalmology

Ramos de Carvalho, J E JE; Schlingemann, R O RO; Oranje, M M; Bemelman, F J FJ; van Schooneveld, M J MJ

Publication Date: 2018-02

Variant appearance in text: HUS: Ser1191Leu

PubMed Link: 28275964

Variant Present in the following documents:

• Main text
• 10792_2017_Article_470.pdf

View BVdb publication page

---

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: CFH: S1191L

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CFH: 3572C>T; S1191L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

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: S1191L; rs460897

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome.

Clinical Kidney Journal

Lopes, Daniela D; Gomes, Ana Marta AM; Cunha, Cátia C; Pinto, Catarina Silva CS; Fidalgo, Teresa T; Fernandes, João Carlos JC

Publication Date: 2015-12

Variant appearance in text: CFH: S1191L

PubMed Link: 26613026

Variant Present in the following documents:

• sfv102.pdf

View BVdb publication page

---

Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CFH: 3572C>T; S1191L; rs460897

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

---

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: S1191L

PubMed Link: 26490391

Variant Present in the following documents:

• Main text

View BVdb publication page

---

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

Journal Of The American Society Of Nephrology : Jasn

Bu, Fengxiao F; Borsa, Nicolo Ghiringhelli NG; Jones, Michael B MB; Takanami, Erika E; Nishimura, Carla C; Hauer, Jill J JJ; Azaiez, Hela H; Black-Ziegelbein, Elizabeth A EA; Meyer, Nicole C NC; Kolbe, Diana L DL; Li, Yingyue Y; Frees, Kathy K; Schnieders, Michael J MJ; Thomas, Christie C; Nester, Carla C; Smith, Richard J H RJ

Publication Date: 2016-04

Variant appearance in text: CFH: 3572C>T; Ser1191Leu; rs460897

PubMed Link: 26283675

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S1191L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

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: S1191L

PubMed Link: 25659429

Variant Present in the following documents:

• Main text
• zbc9500.pdf

View BVdb publication page

---

Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.

Clinical And Experimental Immunology

Volokhina, E B EB; Westra, D D; van der Velden, T J A M TJ; van de Kar, N C A J NC; Mollnes, T E TE; van den Heuvel, L P LP

Publication Date: 2015-08

Variant appearance in text: CFH: Ser1191Leu

PubMed Link: 25079699

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: CFH: S1191L

PubMed Link: 25037630

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Ser1191Leu

PubMed Link: 24904082

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S1191L

PubMed Link: 24161037

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.

Blood

Feng, Shuju S; Eyler, Stephen J SJ; Zhang, Yuzhou Y; Maga, Tara T; Nester, Carla M CM; Kroll, Michael H MH; Smith, Richard J RJ; Afshar-Kharghan, Vahid V

Publication Date: 2013-08-22

Variant appearance in text: HUS: 3572C>T

PubMed Link: 23847193

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CFH: S1191L

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

---

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: S1191L

PubMed Link: 23810412

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: HUS: S1191L

PubMed Link: 23431077

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.

Clinical & Developmental Immunology

Bu, Fengxiao F; Borsa, Nicolo N; Gianluigi, Ardissino A; Smith, Richard J H RJ

Publication Date: 2012

Variant appearance in text: CFH: S1191L; rs460897

PubMed Link: 23251215

Variant Present in the following documents:

• Main text
• CDI2012-370426.pdf

View BVdb publication page

---

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.

Pediatric Nephrology (Berlin, Germany)

Geerdink, Lianne M LM; Westra, Dineke D; van Wijk, Joanna A E JA; Dorresteijn, Eiske M EM; Lilien, Marc R MR; Davin, Jean-Claude JC; Kömhoff, Martin M; Van Hoeck, Koen K; van der Vlugt, Amerins A; van den Heuvel, Lambertus P LP; van de Kar, Nicole C A J NC

Publication Date: 2012-08

Variant appearance in text: HUS: 3572C>T

PubMed Link: 22410797

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Atypical hemolytic uremic syndrome.

Orphanet Journal Of Rare Diseases

Loirat, Chantal C; Frémeaux-Bacchi, Véronique V

Publication Date: 2011-09-08

Variant appearance in text: CFH: S1191L

PubMed Link: 21902819

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Long-term renal function under plasma exchange in atypical hemolytic uremic syndrome.

Pediatric Nephrology (Berlin, Germany)

Davin, Jean-Claude JC; Groothoff, Jaap J; Gracchi, Valentina V; Bouts, Antonia A

Publication Date: 2011-10

Variant appearance in text: CFH: Ser1191Leu

PubMed Link: 21647646

Variant Present in the following documents:

• Main text
• 467_2011_Article_1925.pdf

View BVdb publication page

---

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: 3572C>T; S1191L

PubMed Link: 21617085

Variant Present in the following documents:

• Main text

View BVdb publication page

---

aHUS caused by complement dysregulation: new therapies on the horizon.

Pediatric Nephrology (Berlin, Germany)

Waters, Aoife M AM; Licht, Christoph C

Publication Date: 2011-01

Variant appearance in text: CFH: S1191L

PubMed Link: 20556434

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S1191L

PubMed Link: 20526633

Variant Present in the following documents:

• Main text
• 467_2010_Article_1555.pdf

View BVdb publication page

---