Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Frontiers In Genome Editing
Fañanas-Baquero, Sara S; Morín, Matías M; Fernández, Sergio S; Ojeda-Perez, Isabel I; Dessy-Rodriguez, Mercedes M; Giurgiu, Miruna M; Bueren, Juan A JA; Moreno-Pelayo, Miguel Angel MA; Segovia, Jose Carlos JC; Quintana-Bustamante, Oscar O
Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: PKLR: 1456C>T; Arg486Trp
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
Backman, Joshua D JD; Li, Alexander H AH; Marcketta, Anthony A; Sun, Dylan D; Mbatchou, Joelle J; Kessler, Michael D MD; Benner, Christian C; Liu, Daren D; Locke, Adam E AE; Balasubramanian, Suganthi S; Yadav, Ashish A; Banerjee, Nilanjana N; Gillies, Christopher E CE; Damask, Amy A; Liu, Simon S; Bai, Xiaodong X; Hawes, Alicia A; Maxwell, Evan E; Gurski, Lauren L; Watanabe, Kyoko K; Kosmicki, Jack A JA; Rajagopal, Veera V; Mighty, Jason J; , ; , ; Jones, Marcus M; Mitnaul, Lyndon L; Stahl, Eli E; Coppola, Giovanni G; Jorgenson, Eric E; Habegger, Lukas L; Salerno, William J WJ; Shuldiner, Alan R AR; Lotta, Luca A LA; Overton, John D JD; Cantor, Michael N MN; Reid, Jeffrey G JG; Yancopoulos, George G; Kang, Hyun M HM; Marchini, Jonathan J; Baras, Aris A; Abecasis, Gonçalo R GR; Ferreira, Manuel A R MAR
Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.
Molecular Therapy. Methods & Clinical Development
Fañanas-Baquero, Sara S; Quintana-Bustamante, Oscar O; Dever, Daniel P DP; Alberquilla, Omaira O; Sanchez-Dominguez, Rebeca R; Camarena, Joab J; Ojeda-Perez, Isabel I; Dessy-Rodriguez, Mercedes M; Turk, Rolf R; Schubert, Mollie S MS; Lattanzi, Annalisa A; Xu, Liwen L; Lopez-Lorenzo, Jose L JL; Bianchi, Paola P; Bueren, Juan A JA; Behlke, Mark A MA; Porteus, Matthew M; Segovia, Jose-Carlos JC
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Haematologica
Al-Samkari, Hanny H; Van Beers, Eduard J EJ; Kuo, Kevin H M KHM; Barcellini, Wilma W; Bianchi, Paola P; Glenthøj, Andreas A; Del Mar Mañú Pereira, María M; Van Wijk, Richard R; Glader, Bertil B; Grace, Rachael F RF
Publication Date: 2020-09-01
Variant appearance in text: PKLR: 1456C>T; Arg486Trp
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Cell
Vuckovic, Dragana D; Bao, Erik L EL; Akbari, Parsa P; Lareau, Caleb A CA; Mousas, Abdou A; Jiang, Tao T; Chen, Ming-Huei MH; Raffield, Laura M LM; Tardaguila, Manuel M; Huffman, Jennifer E JE; Ritchie, Scott C SC; Megy, Karyn K; Ponstingl, Hannes H; Penkett, Christopher J CJ; Albers, Patrick K PK; Wigdor, Emilie M EM; Sakaue, Saori S; Moscati, Arden A; Manansala, Regina R; Lo, Ken Sin KS; Qian, Huijun H; Akiyama, Masato M; Bartz, Traci M TM; Ben-Shlomo, Yoav Y; Beswick, Andrew A; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brody, Jennifer A JA; van Rooij, Frank J A FJA; Chitrala, Kumaraswamy N KN; Wilson, Peter W F PWF; Choquet, Hélène H; Danesh, John J; Di Angelantonio, Emanuele E; Dimou, Niki N; Ding, Jingzhong J; Elliott, Paul P; Esko, Tõnu T; Evans, Michele K MK; Felix, Stephan B SB; Floyd, James S JS; Broer, Linda L; Grarup, Niels N; Guo, Michael H MH; Guo, Qi Q; Greinacher, Andreas A; Haessler, Jeff J; Hansen, Torben T; Howson, Joanna M M JMM; Huang, Wei W; Jorgenson, Eric E; Kacprowski, Tim T; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Karthikeyan, Savita S; Koskeridis, Fotios F; Lange, Leslie A LA; Lehtimäki, Terho T; Linneberg, Allan A; Liu, Yongmei Y; Lyytikäinen, Leo-Pekka LP; Manichaikul, Ani A; Matsuda, Koichi K; Mohlke, Karen L KL; Mononen, Nina N; Murakami, Yoshinori Y; Nadkarni, Girish N GN; Nikus, Kjell K; Pankratz, Nathan N; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Raitakari, Olli T OT; Rich, Stephen S SS; Rodriguez, Benjamin A T BAT; Rosen, Jonathan D JD; Rotter, Jerome I JI; Schubert, Petra P; Spracklen, Cassandra N CN; Surendran, Praveen P; Tang, Hua H; Tardif, Jean-Claude JC; Ghanbari, Mohsen M; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Weiss, Stefan S; , ; Cai, Na N; Kundu, Kousik K; Watt, Stephen B SB; Walter, Klaudia K; Zonderman, Alan B AB; Cho, Kelly K; Li, Yun Y; Loos, Ruth J F RJF; Knight, Julian C JC; Georges, Michel M; Stegle, Oliver O; Evangelou, Evangelos E; Okada, Yukinori Y; Roberts, David J DJ; Inouye, Michael M; Johnson, Andrew D AD; Auer, Paul L PL; Astle, William J WJ; Reiner, Alexander P AP; Butterworth, Adam S AS; Ouwehand, Willem H WH; Lettre, Guillaume G; Sankaran, Vijay G VG; Soranzo, Nicole N
Publication Date: 2020-09-03
Variant appearance in text: PKLR: Arg486Trp; rs116100695
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
American Journal Of Hematology
Bianchi, Paola P; Fermo, Elisa E; Lezon-Geyda, Kimberly K; van Beers, Eduard J EJ; Morton, Holmes D HD; Barcellini, Wilma W; Glader, Bertil B; Chonat, Satheesh S; Ravindranath, Yaddanapudi Y; Newburger, Peter E PE; Kollmar, Nina N; Despotovic, Jenny M JM; Verhovsek, Madeleine M; Sharma, Mukta M; Kwiatkowski, Janet L JL; Kuo, Kevin H M KHM; Wlodarski, Marcin W MW; Yaish, Hassan M HM; Holzhauer, Susanne S; Wang, Heng H; Kunz, Joachim J; Addonizio, Kathryn K; Al-Sayegh, Hasan H; London, Wendy B WB; Andres, Oliver O; van Wijk, Richard R; Gallagher, Patrick G PG; Grace, Rachael F F RFF
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Haematologica
Rab, Minke A E MAE; Van Oirschot, Brigitte A BA; Kosinski, Penelope A PA; Hixon, Jeffrey J; Johnson, Kendall K; Chubukov, Victor V; Dang, Lenny L; Pasterkamp, Gerard G; Van Straaten, Stephanie S; Van Solinge, Wouter W WW; Van Beers, Eduard J EJ; Kung, Charles C; Van Wijk, Richard R
Publication Date: 2021-01-01
Variant appearance in text: PKLR: 1456C>T; Arg486Trp
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
American Journal Of Hematology
Bianchi, Paola P; Fermo, Elisa E; Glader, Bertil B; Kanno, Hitoshi H; Agarwal, Archana A; Barcellini, Wilma W; Eber, Stefan S; Hoyer, James D JD; Kuter, David J DJ; Maia, Tabita Magalhães TM; Mañu-Pereira, Maria Del Mar MDM; Kalfa, Theodosia A TA; Pissard, Serge S; Segovia, José-Carlos JC; van Beers, Eduard E; Gallagher, Patrick G PG; Rees, David C DC; van Wijk, Richard R; ,
Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067.
Plos One
Figueroa, Dominique B DB; Tillotson, Joseph J; Li, Maoji M; Piwowar-Manning, Estelle E; Hendrix, Craig W CW; Holtz, Timothy H TH; Bokoch, Kevin K; Bekker, Linda-Gail LG; van Griensven, Frits F; Mannheimer, Sharon S; Hughes, James P JP; Grant, Robert M RM; Bumpus, Namandjé N NN
Publication Date: 2018
Variant appearance in text: PKLR: 1456C>T; rs116100695
Novel mutations associated with pyruvate kinase deficiency in Brazil.
Revista Brasileira De Hematologia E Hemoterapia
Svidnicki, Maria Carolina Costa Melo MCCM; Santos, Andrey A; Fernandez, Jhonathan Angel Araujo JAA; Yokoyama, Ana Paula Hitomi APH; Magalhães, Isis Quezado IQ; Pinheiro, Vitoria Regia Pereira VRP; Brandalise, Silvia Regina SR; Silveira, Paulo Augusto Achucarro PAA; Costa, Fernando Ferreira FF; Saad, Sara Teresinha Olalla STO
Publication Date: 2018
Variant appearance in text: PKLR: 1456C>T; Arg486Trp
Genetic Variation of the Kinases That Phosphorylate Tenofovir and Emtricitabine in Peripheral Blood Mononuclear Cells.
Aids Research And Human Retroviruses
Figueroa, Dominique B DB; Madeen, Erin P EP; Tillotson, Joseph J; Richardson, Paul P; Cottle, Leslie L; McCauley, Marybeth M; Landovitz, Raphael J RJ; Andrade, Adriana A; Hendrix, Craig W CW; Mayer, Kenneth H KH; Wilkin, Timothy T; Gulick, Roy M RM; Bumpus, Namandjé N NN
Publication Date: 2018-05
Variant appearance in text: PKLR: 1456C>T; rs116100695
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: PKLR: 1456C>T; R486W; rs116100695
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Cell
Astle, William J WJ; Elding, Heather H; Jiang, Tao T; Allen, Dave D; Ruklisa, Dace D; Mann, Alice L AL; Mead, Daniel D; Bouman, Heleen H; Riveros-Mckay, Fernando F; Kostadima, Myrto A MA; Lambourne, John J JJ; Sivapalaratnam, Suthesh S; Downes, Kate K; Kundu, Kousik K; Bomba, Lorenzo L; Berentsen, Kim K; Bradley, John R JR; Daugherty, Louise C LC; Delaneau, Olivier O; Freson, Kathleen K; Garner, Stephen F SF; Grassi, Luigi L; Guerrero, Jose J; Haimel, Matthias M; Janssen-Megens, Eva M EM; Kaan, Anita A; Kamat, Mihir M; Kim, Bowon B; Mandoli, Amit A; Marchini, Jonathan J; Martens, Joost H A JHA; Meacham, Stuart S; Megy, Karyn K; O'Connell, Jared J; Petersen, Romina R; Sharifi, Nilofar N; Sheard, Simon M SM; Staley, James R JR; Tuna, Salih S; van der Ent, Martijn M; Walter, Klaudia K; Wang, Shuang-Yin SY; Wheeler, Eleanor E; Wilder, Steven P SP; Iotchkova, Valentina V; Moore, Carmel C; Sambrook, Jennifer J; Stunnenberg, Hendrik G HG; Di Angelantonio, Emanuele E; Kaptoge, Stephen S; Kuijpers, Taco W TW; Carrillo-de-Santa-Pau, Enrique E; Juan, David D; Rico, Daniel D; Valencia, Alfonso A; Chen, Lu L; Ge, Bing B; Vasquez, Louella L; Kwan, Tony T; Garrido-Martín, Diego D; Watt, Stephen S; Yang, Ying Y; Guigo, Roderic R; Beck, Stephan S; Paul, Dirk S DS; Pastinen, Tomi T; Bujold, David D; Bourque, Guillaume G; Frontini, Mattia M; Danesh, John J; Roberts, David J DJ; Ouwehand, Willem H WH; Butterworth, Adam S AS; Soranzo, Nicole N
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
American Journal Of Human Genetics
Chami, Nathalie N; Chen, Ming-Huei MH; Slater, Andrew J AJ; Eicher, John D JD; Evangelou, Evangelos E; Tajuddin, Salman M SM; Love-Gregory, Latisha L; Kacprowski, Tim T; Schick, Ursula M UM; Nomura, Akihiro A; Giri, Ayush A; Lessard, Samuel S; Brody, Jennifer A JA; Schurmann, Claudia C; Pankratz, Nathan N; Yanek, Lisa R LR; Manichaikul, Ani A; Pazoki, Raha R; Mihailov, Evelin E; Hill, W David WD; Raffield, Laura M LM; Burt, Amber A; Bartz, Traci M TM; Becker, Diane M DM; Becker, Lewis C LC; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; O'Donoghue, Michelle L ML; Crosslin, David R DR; de Denus, Simon S; Dubé, Marie-Pierre MP; Elliott, Paul P; Engström, Gunnar G; Evans, Michele K MK; Floyd, James S JS; Fornage, Myriam M; Gao, He H; Greinacher, Andreas A; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hernesniemi, Jussi J; Highland, Heather M HM; Hirschhorn, Joel N JN; Hofman, Albert A; Irvin, Marguerite R MR; Kähönen, Mika M; Lange, Ethan E; Launer, Lenore J LJ; Lehtimäki, Terho T; Li, Jin J; Liewald, David C M DC; Linneberg, Allan A; Liu, Yongmei Y; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Mägi, Reedik R; Mathias, Rasika A RA; Melander, Olle O; Metspalu, Andres A; Mononen, Nina N; Nalls, Mike A MA; Nickerson, Deborah A DA; Nikus, Kjell K; O'Donnell, Chris J CJ; Orho-Melander, Marju M; Pedersen, Oluf O; Petersmann, Astrid A; Polfus, Linda L; Psaty, Bruce M BM; Raitakari, Olli T OT; Raitoharju, Emma E; Richard, Melissa M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Rotter, Jerome I JI; Schmidt, Frank F; Smith, Albert Vernon AV; Starr, John M JM; Taylor, Kent D KD; Teumer, Alexander A; Thuesen, Betina H BH; Torstenson, Eric S ES; Tracy, Russell P RP; Tzoulaki, Ioanna I; Zakai, Neil A NA; Vacchi-Suzzi, Caterina C; van Duijn, Cornelia M CM; van Rooij, Frank J A FJ; Cushman, Mary M; Deary, Ian J IJ; Velez Edwards, Digna R DR; Vergnaud, Anne-Claire AC; Wallentin, Lars L; Waterworth, Dawn M DM; White, Harvey D HD; Wilson, James G JG; Zonderman, Alan B AB; Kathiresan, Sekar S; Grarup, Niels N; Esko, Tõnu T; Loos, Ruth J F RJ; Lange, Leslie A LA; Faraday, Nauder N; Abumrad, Nada A NA; Edwards, Todd L TL; Ganesh, Santhi K SK; Auer, Paul L PL; Johnson, Andrew D AD; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2016-07-07
Variant appearance in text: PKLR: Arg486Trp; rs116100695
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: PKLR: R486W; rs116100695
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Discovery Medicine
Lyon, Gholson J GJ; Jiang, Tao T; Van Wijk, Richard R; Wang, Wei W; Bodily, Paul Mark PM; Xing, Jinchuan J; Tian, Lifeng L; Robison, Reid J RJ; Clement, Mark M; Lin, Yang Y; Zhang, Peng P; Liu, Ying Y; Moore, Barry B; Glessner, Joseph T JT; Elia, Josephine J; Reimherr, Fred F; van Solinge, Wouter W WW; Yandell, Mark M; Hakonarson, Hakon H; Wang, Jun J; Johnson, William Evan WE; Wei, Zhi Z; Wang, Kai K