Publications:

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Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Haematologica

Künstner, Axel A; Witte, Hanno M HM; Riedl, Jörg J; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; Olschewski, Vito V; Peter, Wolfgang W; Ketzer, Julius J; Busch, Yannik Y; Trojok, Peter P; Bubnoff, Nikolas von NV; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-08-01

Variant appearance in text: APC: E1020K

PubMed Link: 34788985

Variant Present in the following documents:

• 2021_279631_KUNSTNER_TABS5_SUPPL.xlsx, sheet 1

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PI3Kδ coordinates transcriptional, chromatin, and metabolic changes to promote effector CD8+ T cells at the expense of central memory.

Cell Reports

Cannons, Jennifer L JL; Villarino, Alejandro V AV; Kapnick, Senta M SM; Preite, Silvia S; Shih, Han-Yu HY; Gomez-Rodriguez, Julio J; Kaul, Zenia Z; Shibata, Hirofumi H; Reilley, Julie M JM; Huang, Bonnie B; Handon, Robin R; McBain, Ian T IT; Gossa, Selamawit S; Wu, Tuoqi T; Su, Helen C HC; McGavern, Dorian B DB; O'Shea, John J JJ; McGuire, Peter J PJ; Uzel, Gulbu G; Schwartzberg, Pamela L PL

Publication Date: 2021-10-12

Variant appearance in text: APC: E1020K

PubMed Link: 34644563

Variant Present in the following documents:

• NIHMS1747909-supplement-4.pdf

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: APC: 3058G>A; E1020K

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Loss of Phosphatidylinositol 3-Kinase Activity in Regulatory T Cells Leads to Neuronal Inflammation.

Journal Of Immunology (Baltimore, Md. : 1950)

Stark, Anne-Katrien AK; Davenport, Elizabeth C M ECM; Patton, Daniel T DT; Scudamore, Cheryl L CL; Vanhaesebroeck, Bart B; Veldhoen, Marc M; Garden, Oliver A OA; Okkenhaug, Klaus K

Publication Date: 2020-07-01

Variant appearance in text: APC: E1020K

PubMed Link: 32414808

Variant Present in the following documents:

• Main text

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Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

The Journal Of Allergy And Clinical Immunology

Bier, Julia J; Rao, Geetha G; Payne, Kathryn K; Brigden, Henry H; French, Elise E; Pelham, Simon J SJ; Lau, Anthony A; Lenthall, Helen H; Edwards, Emily S J ESJ; Smart, Joanne M JM; Cole, Theresa S TS; Choo, Sharon S; Joshi, Avni Y AY; Abraham, Roshini S RS; O'Sullivan, Michael M; Boztug, Kaan K; Meyts, Isabelle I; Gray, Paul E PE; Berglund, Lucinda J LJ; Hsu, Peter P; Wong, Melanie M; Holland, Steven M SM; Notarangelo, Luigi D LD; Uzel, Gulbu G; Ma, Cindy S CS; Brink, Robert R; Tangye, Stuart G SG; Deenick, Elissa K EK

Publication Date: 2019-07

Variant appearance in text: APC: E1020K

PubMed Link: 30738173

Variant Present in the following documents:

• Main text

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PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner.

Nature Communications

Stark, Anne-Katrien AK; Chandra, Anita A; Chakraborty, Krishnendu K; Alam, Rafeah R; Carbonaro, Valentina V; Clark, Jonathan J; Sriskantharajah, Srividya S; Bradley, Glyn G; Richter, Alex G AG; Banham-Hall, Edward E; Clatworthy, Menna R MR; Nejentsev, Sergey S; Hamblin, J Nicole JN; Hessel, Edith M EM; Condliffe, Alison M AM; Okkenhaug, Klaus K

Publication Date: 2018-08-09

Variant appearance in text: APC: E1020K

PubMed Link: 30093657

Variant Present in the following documents:

• Main text
• 41467_2018_Article_5674.pdf

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Germline-activating mutations in PIK3CD compromise B cell development and function.

The Journal Of Experimental Medicine

Avery, Danielle T DT; Kane, Alisa A; Nguyen, Tina T; Lau, Anthony A; Nguyen, Akira A; Lenthall, Helen H; Payne, Kathryn K; Shi, Wei W; Brigden, Henry H; French, Elise E; Bier, Julia J; Hermes, Jana R JR; Zahra, David D; Sewell, William A WA; Butt, Danyal D; Elliott, Michael M; Boztug, Kaan K; Meyts, Isabelle I; Choo, Sharon S; Hsu, Peter P; Wong, Melanie M; Berglund, Lucinda J LJ; Gray, Paul P; O'Sullivan, Michael M; Cole, Theresa T; Holland, Steven M SM; Ma, Cindy S CS; Burkhart, Christoph C; Corcoran, Lynn M LM; Phan, Tri Giang TG; Brink, Robert R; Uzel, Gulbu G; Deenick, Elissa K EK; Tangye, Stuart G SG

Publication Date: 2018-08-06

Variant appearance in text: APC: E1020K

PubMed Link: 30018075

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: APC: 3058G>A; E1020K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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