Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: NACA2: 589C>T; Arg197Ter
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
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: NACA2: R197*; rs17610181
Microscaled proteogenomic methods for precision oncology.
Nature Communications
Satpathy, Shankha S; Jaehnig, Eric J EJ; Krug, Karsten K; Kim, Beom-Jun BJ; Saltzman, Alexander B AB; Chan, Doug W DW; Holloway, Kimberly R KR; Anurag, Meenakshi M; Huang, Chen C; Singh, Purba P; Gao, Ari A; Namai, Noel N; Dou, Yongchao Y; Wen, Bo B; Vasaikar, Suhas V SV; Mutch, David D; Watson, Mark A MA; Ma, Cynthia C; Ademuyiwa, Foluso O FO; Rimawi, Mothaffar F MF; Schiff, Rachel R; Hoog, Jeremy J; Jacobs, Samuel S; Malovannaya, Anna A; Hyslop, Terry T; Clauser, Karl R KR; Mani, D R DR; Perou, Charles M CM; Miles, George G; Zhang, Bing B; Gillette, Michael A MA; Carr, Steven A SA; Ellis, Matthew J MJ
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: NACA2: R197X; rs17610181
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: NACA2: R197X; rs17610181
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: NACA2: 589C>T; Arg197*; rs17610181
A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.
Blood Cancer Journal
White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH
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
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: NACA2: R197X; rs17610181
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: NACA2: R197X; rs17610181
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
Annals Of The Rheumatic Diseases
Evangelou, Evangelos E; Kerkhof, Hanneke J HJ; Styrkarsdottir, Unnur U; Ntzani, Evangelia E EE; Bos, Steffan D SD; Esko, Tonu T; Evans, Daniel S DS; Metrustry, Sarah S; Panoutsopoulou, Kalliope K; Ramos, Yolande F M YF; Thorleifsson, Gudmar G; Tsilidis, Konstantinos K KK; , ; Arden, Nigel N; Aslam, Nadim N; Bellamy, Nicholas N; Birrell, Fraser F; Blanco, Francisco J FJ; Carr, Andrew A; Chapman, Kay K; Day-Williams, Aaron G AG; Deloukas, Panos P; Doherty, Michael M; Engström, Gunnar G; Helgadottir, Hafdis T HT; Hofman, Albert A; Ingvarsson, Thorvaldur T; Jonsson, Helgi H; Keis, Aime A; Keurentjes, J Christiaan JC; Kloppenburg, Margreet M; Lind, Penelope A PA; McCaskie, Andrew A; Martin, Nicholas G NG; Milani, Lili L; Montgomery, Grant W GW; Nelissen, Rob G H H RG; Nevitt, Michael C MC; Nilsson, Peter M PM; Ollier, William Er WE; Parimi, Neeta N; Rai, Ashok A; Ralston, Stuart H SH; Reed, Mike R MR; Riancho, Jose A JA; Rivadeneira, Fernando F; Rodriguez-Fontenla, Cristina C; Southam, Lorraine L; Thorsteinsdottir, Unnur U; Tsezou, Aspasia A; Wallis, Gillian A GA; Wilkinson, J Mark JM; Gonzalez, Antonio A; Lane, Nancy E NE; Lohmander, L Stefan LS; Loughlin, John J; Metspalu, Andres A; Uitterlinden, Andre G AG; Jonsdottir, Ingileif I; Stefansson, Kari K; Slagboom, P Eline PE; Zeggini, Eleftheria E; Meulenbelt, Ingrid I; Ioannidis, John Pa JP; Spector, Tim D TD; van Meurs, Joyce B J JB; Valdes, Ana M AM