Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration.
Iscience
Zelinger, Lina L; Martin, Tammy M TM; Advani, Jayshree J; Campello, Laura L; English, Milton A MA; Kwong, Alan A; Weber, Claire C; Maykoski, Jennifer J; Sergeev, Yuri V YV; Fariss, Robert R; Chew, Emily Y EY; Klein, Michael L ML; Swaroop, Anand A
Sustained Response to Eculizumab in a Patient With COVID-19-Associated Acute Thrombotic Microangiopathy of the Allograft Kidney: A Case Report.
Transplantation Proceedings
Rehman, Shehzad S; de Mattos, Angelo A; Stack, Megan M; Norman, Douglas D; Zapata, Sarah S; Wang, Pei Li PL; Mansoor, Abdul Hai AH; Kung, Vanderlene V; Andeen, Nicole K NK
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
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
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Frontiers In Immunology
Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH
Systems genomics in age-related macular degeneration.
Experimental Eye Research
den Hollander, Anneke I AI; Mullins, Robert F RF; Orozco, Luz D LD; Voigt, Andrew P AP; Chen, Hsu-Hsin HH; Strunz, Tobias T; Grassmann, Felix F; Haines, Jonathan L JL; Kuiper, Jonas J W JJW; Tumminia, Santa J SJ; Allikmets, Rando R; Hageman, Gregory S GS; Stambolian, Dwight D; Klaver, Caroline C W CCW; Boeke, Jef D JD; Chen, Hao H; Honigberg, Lee L; Katti, Suresh S; Frazer, Kelly A KA; Weber, Bernhard H F BHF; Gorin, Michael B MB
Publication Date: 2022-12
Variant appearance in text: C9: Pro167Ser; rs34882957
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
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Publication Date: 2021-11-25
Variant appearance in text: C9: Pro167Ser; rs34882957
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Publication Date: 2021-11-25
Variant appearance in text: C9: Pro167Ser; rs34882957
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
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
Human Molecular Genetics
McMahon, O O; Hallam, T M TM; Patel, S S; Harris, C L CL; Menny, A A; Zelek, W M WM; Widjajahakim, R R; Java, A A; Cox, T E TE; Tzoumas, N N; Steel, D H W DHW; Shuttleworth, V G VG; Smith-Jackson, K K; Brocklebank, V V; Griffiths, H H; Cree, A J AJ; Atkinson, J P JP; Lotery, A J AJ; Bubeck, D D; Morgan, B P BP; Marchbank, K J KJ; Seddon, J M JM; Kavanagh, D D
Ratnapriya, Rinki R; Acar, İlhan E İE; Geerlings, Maartje J MJ; Branham, Kari K; Kwong, Alan A; Saksens, Nicole T M NTM; Pauper, Marc M; Corominas, Jordi J; Kwicklis, Madeline M; Zipprer, David D; Starostik, Margaret R MR; Othman, Mohammad M; Yashar, Beverly B; Abecasis, Goncalo R GR; Chew, Emily Y EY; Ferrington, Deborah A DA; Hoyng, Carel B CB; Swaroop, Anand A; den Hollander, Anneke I AI
Profiling of the plasma proteome across different stages of human heart failure.
Nature Communications
Egerstedt, Anna A; Berntsson, John J; Smith, Maya Landenhed ML; Gidlöf, Olof O; Nilsson, Roland R; Benson, Mark M; Wells, Quinn S QS; Celik, Selvi S; Lejonberg, Carl C; Farrell, Laurie L; Sinha, Sumita S; Shen, Dongxiao D; Lundgren, Jakob J; Rådegran, Göran G; Ngo, Debby D; Engström, Gunnar G; Yang, Qiong Q; Wang, Thomas J TJ; Gerszten, Robert E RE; Smith, J Gustav JG
Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.
Stem Cell Reports
Smith, Erin N EN; D'Antonio-Chronowska, Agnieszka A; Greenwald, William W WW; Borja, Victor V; Aguiar, Lana R LR; Pogue, Robert R; Matsui, Hiroko H; Benaglio, Paola P; Borooah, Shyamanga S; D'Antonio, Matteo M; Ayyagari, Radha R; Frazer, Kelly A KA
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: C9: 499C>T; Pro167Ser; rs34882957
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Scientific Reports
Douillard, Aymeric A; Picot, Marie-Christine MC; Delcourt, Cécile C; Defoort-Dhellemmes, Sabine S; Marzouka, Nour Al-Dain NA; Lacroux, Annie A; Zanlonghi, Xavier X; Drumare, Isabelle I; Jozefowicz, Elsa E; Bocquet, Béatrice B; Baudoin, Corinne C; Perez-Roustit, Sarah S; Arsène, Sophie S; Gissot, Valérie V; Devin, François F; Arndt, Carl C; Wolff, Benjamin B; Mauget-Faÿsse, Martine M; Quaranta, Maddalena M; Mura, Thibault T; Deplanque, Dominique D; Oubraham, Hassiba H; Cohen, Salomon Yves SY; Gastaud, Pierre P; Zambrowski, Olivia O; Creuzot-Garcher, Catherine C; Saïd, Saddek Mohand SM; Sahel, José-Alain JA; Souied, Eric E; Milazzo, Solange S; Garavito, Rocio Blanco RB; Kalatzis, Vasiliki V; Puech, Bernard B; Hamel, Christian C; Audo, Isabelle I; Meunier, Isabelle I
Publication Date: 2018-05-01
Variant appearance in text: C9: Pro167Ser; rs34882957
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Geographic distribution of rare variants associated with age-related macular degeneration.
Molecular Vision
Geerlings, Maartje J MJ; Kersten, Eveline E; Groenewoud, Joannes M M JMM; Fritsche, Lars G LG; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2018
Variant appearance in text: C9: Pro167Ser; rs34882957
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: C9: 499C>T; P167S; rs34882957
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
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
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Scientific Reports
Wagner, Erin K EK; Raychaudhuri, Soumya S; Villalonga, Mercedes B MB; Java, Anuja A; Triebwasser, Michael P MP; Daly, Mark J MJ; Atkinson, John P JP; Seddon, Johanna M JM
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nature Genetics
Fritsche, Lars G LG; Igl, Wilmar W; Bailey, Jessica N Cooke JN; Grassmann, Felix F; Sengupta, Sebanti S; Bragg-Gresham, Jennifer L JL; Burdon, Kathryn P KP; Hebbring, Scott J SJ; Wen, Cindy C; Gorski, Mathias M; Kim, Ivana K IK; Cho, David D; Zack, Donald D; Souied, Eric E; Scholl, Hendrik P N HP; Bala, Elisa E; Lee, Kristine E KE; Hunter, David J DJ; Sardell, Rebecca J RJ; Mitchell, Paul P; Merriam, Joanna E JE; Cipriani, Valentina V; Hoffman, Joshua D JD; Schick, Tina T; Lechanteur, Yara T E YT; Guymer, Robyn H RH; Johnson, Matthew P MP; Jiang, Yingda Y; Stanton, Chloe M CM; Buitendijk, Gabriëlle H S GH; Zhan, Xiaowei X; Kwong, Alan M AM; Boleda, Alexis A; Brooks, Matthew M; Gieser, Linn L; Ratnapriya, Rinki R; Branham, Kari E KE; Foerster, Johanna R JR; Heckenlively, John R JR; Othman, Mohammad I MI; Vote, Brendan J BJ; Liang, Helena Hai HH; Souzeau, Emmanuelle E; McAllister, Ian L IL; Isaacs, Timothy T; Hall, Janette J; Lake, Stewart S; Mackey, David A DA; Constable, Ian J IJ; Craig, Jamie E JE; Kitchner, Terrie E TE; Yang, Zhenglin Z; Su, Zhiguang Z; Luo, Hongrong H; Chen, Daniel D; Ouyang, Hong H; Flagg, Ken K; Lin, Danni D; Mao, Guanping G; Ferreyra, Henry H; Stark, Klaus K; von Strachwitz, Claudia N CN; Wolf, Armin A; Brandl, Caroline C; Rudolph, Guenther G; Olden, Matthias M; Morrison, Margaux A MA; Morgan, Denise J DJ; Schu, Matthew M; Ahn, Jeeyun J; Silvestri, Giuliana G; Tsironi, Evangelia E EE; Park, Kyu Hyung KH; Farrer, Lindsay A LA; Orlin, Anton A; Brucker, Alexander A; Li, Mingyao M; Curcio, Christine A CA; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Audo, Isabelle I; Benchaboune, Mustapha M; Cree, Angela J AJ; Rennie, Christina A CA; Goverdhan, Srinivas V SV; Grunin, Michelle M; Hagbi-Levi, Shira S; Campochiaro, Peter P; Katsanis, Nicholas N; Holz, Frank G FG; Blond, Frédéric F; Blanché, Hélène H; Deleuze, Jean-François JF; Igo, Robert P RP; Truitt, Barbara B; Peachey, Neal S NS; Meuer, Stacy M SM; Myers, Chelsea E CE; Moore, Emily L EL; Klein, Ronald R; Hauser, Michael A MA; Postel, Eric A EA; Courtenay, Monique D MD; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Scott, William K WK; Liew, Gerald G; Tan, Ava G AG; Gopinath, Bamini B; Merriam, John C JC; Smith, R Theodore RT; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; McGrath, J Allie JA; Laux, Reneé R; Brantley, Milam A MA; Agarwal, Anita A; Ersoy, Lebriz L; Caramoy, Albert A; Langmann, Thomas T; Saksens, Nicole T M NT; de Jong, Eiko K EK; Hoyng, Carel B CB; Cain, Melinda S MS; Richardson, Andrea J AJ; Martin, Tammy M TM; Blangero, John J; Weeks, Daniel E DE; Dhillon, Bal B; van Duijn, Cornelia M CM; Doheny, Kimberly F KF; Romm, Jane J; Klaver, Caroline C W CC; Hayward, Caroline C; Gorin, Michael B MB; Klein, Michael L ML; Baird, Paul N PN; den Hollander, Anneke I AI; Fauser, Sascha S; Yates, John R W JR; Allikmets, Rando R; Wang, Jie Jin JJ; Schaumberg, Debra A DA; Klein, Barbara E K BE; Hagstrom, Stephanie A SA; Chowers, Itay I; Lotery, Andrew J AJ; Léveillard, Thierry T; Zhang, Kang K; Brilliant, Murray H MH; Hewitt, Alex W AW; Swaroop, Anand A; Chew, Emily Y EY; Pericak-Vance, Margaret A MA; DeAngelis, Margaret M; Stambolian, Dwight D; Haines, Jonathan L JL; Iyengar, Sudha K SK; Weber, Bernhard H F BH; Abecasis, Gonçalo R GR; Heid, Iris M IM