Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.
Kidney International Reports
Bouwmeester, Romy N RN; Duineveld, Caroline C; Wijnsma, Kioa L KL; Bemelman, Frederike J FJ; van der Heijden, Joost W JW; van Wijk, Joanna A E JAE; Bouts, Antonia H M AHM; van de Wetering, Jacqueline J; Dorresteijn, Eiske E; Berger, Stefan P SP; Gracchi, Valentina V; van Zuilen, Arjan D AD; Keijzer-Veen, Mandy G MG; de Vries, Aiko P J APJ; van Rooij, Roos W G RWG; Engels, Flore A P T FAPT; Altena, Wim W; de Wildt, Renée R; van Kempen, Evy E; Adang, Eddy M EM; Ter Avest, Mendy M; 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
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: CFH: 2850G>T; Gln950His
Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: CFH: 2850G>T; Gln950His
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: 2850G>T; Gln950His
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: CFH: 2850G>T; Gln950His
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
Systemic complement levels in patients with age-related macular degeneration carrying rare or low frequency variants in the CFH gene.
Human Molecular Genetics
de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI
Publication Date: 2021-09-11
Variant appearance in text: CFH: 2850G>T; Gln950His
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human Molecular Genetics
de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI
Publication Date: 2022-02-03
Variant appearance in text: CFH: 2850G>T; Gln950His
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
American Journal Of Human Genetics
Lorés-Motta, Laura L; van Beek, Anna E AE; Willems, Esther E; Zandstra, Judith J; van Mierlo, Gerard G; Einhaus, Alfred A; Mary, Jean-Luc JL; Stucki, Corinne C; Bakker, Bjorn B; Hoyng, Carel B CB; Fauser, Sascha S; Clark, Simon J SJ; de Jonge, Marien I MI; Nogoceke, Everson E; Koertvely, Elod E; Jongerius, Ilse I; Kuijpers, Taco W TW; den Hollander, Anneke I AI
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
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: CFH: Q950H; rs149474608
Ex vivo assays to detect complement activation in complementopathies.
Clinical Immunology (Orlando, Fla.)
Yuan, Xuan X; Yu, Jia J; Gerber, Gloria G; Chaturvedi, Shruti S; Cole, Michael M; Chen, Hang H; Metjian, Ara A; Sperati, C John CJ; Braunstein, Evan M EM; Brodsky, Robert A RA
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.
Orphanet Journal Of Rare Diseases
Garam, Nóra N; Prohászka, Zoltán Z; Szilágyi, Ágnes Á; Aigner, Christof C; Schmidt, Alice A; Gaggl, Martina M; Sunder-Plassmann, Gere G; Bajcsi, Dóra D; Brunner, Jürgen J; Dumfarth, Alexandra A; Cejka, Daniel D; Flaschberger, Stefan S; Flögelova, Hana H; Haris, Ágnes Á; Hartmann, Ágnes Á; Heilos, Andreas A; Mueller, Thomas T; Rusai, Krisztina K; Arbeiter, Klaus K; Hofer, Johannes J; Jakab, Dániel D; Sinkó, Mária M; Szigeti, Erika E; Bereczki, Csaba C; Janko, Viktor V; Kelen, Kata K; Reusz, György S GS; Szabó, Attila J AJ; Klenk, Nóra N; Kóbor, Krisztina K; Kojc, Nika N; Knechtelsdorfer, Maarten M; Laganovic, Mario M; Lungu, Adrian Catalin AC; Meglic, Anamarija A; Rus, Rina R; Kersnik-Levart, Tanja T; Macioniene, Ernesta E; Miglinas, Marius M; Pawłowska, Anna A; Stompór, Tomasz T; Podracka, Ludmila L; Rudnicki, Michael M; Mayer, Gert G; Romana Rysava, ; Reiterova, Jana J; Saraga, Marijan M; Tomáš Seeman, ; Zieg, Jakub J; Sládková, Eva E; Szabó, Tamás T; Capitanescu, Andrei A; Stancu, Simona S; Tisljar, Miroslav M; Galesic, Kresimir K; Tislér, András A; Vainumäe, Inga I; Windpessl, Martin M; Zaoral, Tomas T; Zlatanova, Galia G; Csuka, Dorottya D
Complement Activation and Thrombotic Microangiopathies.
Clinical Journal Of The American Society Of Nephrology : Cjasn
Palomo, Marta M; Blasco, Miquel M; Molina, Patricia P; Lozano, Miquel M; Praga, Manuel M; Torramade-Moix, Sergi S; Martinez-Sanchez, Julia J; Cid, Joan J; Escolar, Gines G; Carreras, Enric E; Paules, Cristina C; Crispi, Fatima F; Quintana, Luis F LF; Poch, Esteban E; Rodas, Lida L; Goma, Emma E; Morelle, Johann J; Espinosa, Mario M; Morales, Enrique E; Avila, Ana A; Cabello, Virginia V; Ariceta, Gema G; Chocron, Sara S; Manrique, Joaquin J; Barros, Xoana X; Martin, Nadia N; Huerta, Ana A; Fraga-Rodriguez, Gloria M GM; Cao, Mercedes M; Martin, Marisa M; Romera, Ana Maria AM; Moreso, Francesc F; Manonelles, Anna A; Gratacos, Eduard E; Pereira, Arturo A; Campistol, Josep M JM; Diaz-Ricart, Maribel M
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Ophthalmology
Taylor, Rachel L RL; Poulter, James A JA; Downes, Susan M SM; McKibbin, Martin M; Khan, Kamron N KN; Inglehearn, Chris F CF; Webster, Andrew R AR; Hardcastle, Alison J AJ; Michaelides, Michel M; Bishop, Paul N PN; Clark, Simon J SJ; Black, Graeme C GC; ,
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
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: CFH: 2850G>T; Gln950His
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; ,
Overactivity of Alternative Pathway Convertases in Patients With Complement-Mediated Renal Diseases.
Frontiers In Immunology
Michels, Marloes A H M MAHM; van de Kar, Nicole C A J NCAJ; Okrój, Marcin M; Blom, Anna M AM; van Kraaij, Sanne A W SAW; Volokhina, Elena B EB; van den Heuvel, Lambertus P W J LPWJ
Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Gaut, Joseph P JP; Jain, Sanjay S; Pfeifer, John D JD; Vigh-Conrad, Katinka A KA; Corliss, Meagan M; Sharma, Mukesh K MK; Heusel, Jonathan W JW; Cottrell, Catherine E CE
Publication Date: 2017-12
Variant appearance in text: CFH: Q950H; rs149474608
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.
Kidney International
Brocklebank, Vicky V; Johnson, Sally S; Sheerin, Thomas P TP; Marks, Stephen D SD; Gilbert, Rodney D RD; Tyerman, Kay K; Kinoshita, Meredith M; Awan, Atif A; Kaur, Amrit A; Webb, Nicholas N; Hegde, Shivaram S; Finlay, Eric E; Fitzpatrick, Maggie M; Walsh, Patrick R PR; Wong, Edwin K S EKS; Booth, Caroline C; Kerecuk, Larissa L; Salama, Alan D AD; Almond, Mike M; Inward, Carol C; Goodship, Timothy H TH; Sheerin, Neil S NS; Marchbank, Kevin J KJ; Kavanagh, David D
Small-molecule factor D inhibitors selectively block the alternative pathway of complement in paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome.
Haematologica
Yuan, Xuan X; Gavriilaki, Eleni E; Thanassi, Jane A JA; Yang, Guangwei G; Baines, Andrea C AC; Podos, Steven D SD; Huang, Yongqing Y; Huang, Mingjun M; Brodsky, Robert A RA
Publication Date: 2017-03
Variant appearance in text: CFH: 2850G>T; Gln950His
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: CFH: 2850G>T; Q950H; rs149474608
Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.
The Embo Journal
Forneris, Federico F; Wu, Jin J; Xue, Xiaoguang X; Ricklin, Daniel D; Lin, Zhuoer Z; Sfyroera, Georgia G; Tzekou, Apostolia A; Volokhina, Elena E; Granneman, Joke Cm JC; Hauhart, Richard R; Bertram, Paula P; Liszewski, M Kathryn MK; Atkinson, John P JP; Lambris, John D JD; Gros, Piet P