Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.
Journal Of Clinical Medicine
Wąsowska, Anna A; Teper, Sławomir S; Matczyńska, Ewa E; Łyszkiewicz, Przemysław P; Sendecki, Adam A; Machalińska, Anna A; Wylęgała, Edward E; Boguszewska-Chachulska, Anna A
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: 3148A>T; Asn1050Tyr
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: 3148A>T; Asn1050Tyr
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: 3148A>T; Asn1050Tyr
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: 3148A>T; Asn1050Tyr
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
Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis.
Frontiers In Immunology
Aradottir, Sigridur Sunna SS; Kristoffersson, Ann-Charlotte AC; Roumenina, Lubka T LT; Bjerre, Anna A; Kashioulis, Pavlos P; Palsson, Runolfur R; Karpman, Diana D
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
Neurology
McCormack, Mark M; Gui, Hongsheng H; Ingason, Andrés A; Speed, Doug D; Wright, Galen E B GEB; Zhang, Eunice J EJ; Secolin, Rodrigo R; Yasuda, Clarissa C; Kwok, Maxwell M; Wolking, Stefan S; Becker, Felicitas F; Rau, Sarah S; Avbersek, Andreja A; Heggeli, Kristin K; Leu, Costin C; Depondt, Chantal C; Sills, Graeme J GJ; Marson, Anthony G AG; Auce, Pauls P; Brodie, Martin J MJ; Francis, Ben B; Johnson, Michael R MR; Koeleman, Bobby P C BPC; Striano, Pasquale P; Coppola, Antonietta A; Zara, Federico F; Kunz, Wolfram S WS; Sander, Josemir W JW; Lerche, Holger H; Klein, Karl Martin KM; Weckhuysen, Sarah S; Krenn, Martin M; Gudmundsson, Lárus J LJ; Stefánsson, Kári K; Krause, Roland R; Shear, Neil N; Ross, Colin J D CJD; Delanty, Norman N; , ; Pirmohamed, Munir M; Carleton, Bruce C BC; , ; Cendes, Fernando F; Lopes-Cendes, Iscia I; Liao, Wei-Ping WP; O'Brien, Terence J TJ; Sisodiya, Sanjay M SM; , ; Cherny, Stacey S; Kwan, Patrick P; Baum, Larry L; , ; Cavalleri, Gianpiero L GL
Publication Date: 2018-01-23
Variant appearance in text: CFH: N1050Y; rs35274867
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: CFH: N1050Y; rs35274867
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
Human Molecular Genetics
Yu, Yi Y; Wagner, Erin K EK; Souied, Eric H EH; Seitsonen, Sanna S; Immonen, Ilkka J IJ; Häppölä, Paavo P; Raychaudhuri, Soumya S; Daly, Mark J MJ; Seddon, Johanna M JM
Publication Date: 2016-12-01
Variant appearance in text: CFH: N1050Y; rs35274867
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CFH: N1050Y; rs35274867
Complement factor H gene associations with end-stage kidney disease in African Americans.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Bonomo, Jason A JA; Palmer, Nicholette D ND; Hicks, Pamela J PJ; Lea, Janice P JP; Okusa, Mark D MD; Langefeld, Carl D CD; Bowden, Donald W DW; Freedman, Barry I BI
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: CFH: N1050Y; rs35274867
Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus.
Arthritis Research & Therapy
Jönsen, Andreas A; Nilsson, Sara C SC; Ahlqvist, Emma E; Svenungsson, Elisabet E; Gunnarsson, Iva I; Eriksson, Karin G KG; Bengtsson, Anders A; Zickert, Agneta A; Eloranta, Maija-Leena ML; Truedsson, Lennart L; Rönnblom, Lars L; Nordmark, Gunnel G; Sturfelt, Gunnar G; Blom, Anna M AM
Publication Date: 2011
Variant appearance in text: CFH: 3148A>T; rs35274867
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Nature Genetics
Raychaudhuri, Soumya S; Iartchouk, Oleg O; Chin, Kimberly K; Tan, Perciliz L PL; Tai, Albert K AK; Ripke, Stephan S; Gowrisankar, Sivakumar S; Vemuri, Soumya S; Montgomery, Kate K; Yu, Yi Y; Reynolds, Robyn R; Zack, Donald J DJ; Campochiaro, Betsy B; Campochiaro, Peter P; Katsanis, Nicholas N; Daly, Mark J MJ; Seddon, Johanna M JM
Publication Date: 2011-10-23
Variant appearance in text: CFH: N1050Y; rs35274867
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
American Journal Of Human Genetics
Boon, Camiel J F CJ; Klevering, B Jeroen BJ; Hoyng, Carel B CB; Zonneveld-Vrieling, Marijke N MN; Nabuurs, Sander B SB; Blokland, Ellen E; Cremers, Frans P M FP; den Hollander, Anneke I AI
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
Journal Of Medical Genetics
Abrera-Abeleda, M A MA; Nishimura, C C; Smith, J L H JL; Sethi, S S; McRae, J L JL; Murphy, B F BF; Silvestri, G G; Skerka, C C; Józsi, M M; Zipfel, P F PF; Hageman, G S GS; Smith, R J H RJ