Publications:

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IRF4 expression is low in Philadelphia negative myeloproliferative neoplasms and is associated with a worse prognosis.

Experimental Hematology & Oncology

Cumbo, Cosimo C; Tarantini, Francesco F; Anelli, Luisa L; Zagaria, Antonella A; Redavid, Immacolata I; Minervini, Crescenzio Francesco CF; Coccaro, Nicoletta N; Tota, Giuseppina G; Ricco, Alessandra A; Parciante, Elisa E; Conserva, Maria Rosa MR; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F

Publication Date: 2021-12-24

Variant appearance in text: DNMT3A: 1154C>T; Pro385Leu

PubMed Link: 34952638

Variant Present in the following documents:

• 40164_2021_253_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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IRF4 expression is low in Philadelphia negative myeloproliferative neoplasms and is associated with a worse prognosis.

Experimental Hematology & Oncology

Cumbo, Cosimo C; Tarantini, Francesco F; Anelli, Luisa L; Zagaria, Antonella A; Redavid, Immacolata I; Minervini, Crescenzio Francesco CF; Coccaro, Nicoletta N; Tota, Giuseppina G; Ricco, Alessandra A; Parciante, Elisa E; Conserva, Maria Rosa MR; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F

Publication Date: 2021-12-24

Variant appearance in text: DNMT3A: 1154C>T; Pro385Leu

PubMed Link: 34952638

Variant Present in the following documents:

• 40164_2021_253_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: DNMT3A: 1154C>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood

Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,

Publication Date: 2022-01-20

Variant appearance in text: DNMT3A: P385L

PubMed Link: 34855941

Variant Present in the following documents:

• bloodBLD2021013531-suppl1.pdf
• 10.1182-2021013531_bloodbld2021013531-suppl1.pdf

View BVdb publication page

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Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure

Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA

Publication Date: 2021-06

Variant appearance in text: DNMT3A: 1154C>T; P385L

PubMed Link: 33779075

Variant Present in the following documents:

• EHF2-8-1873-s002.xlsx, sheet 1

View BVdb publication page

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Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine

Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J

Publication Date: 2020-11

Variant appearance in text: rs775677376

PubMed Link: 33252848

Variant Present in the following documents:

• CTM2-10-e222-s003.xlsx, sheet 1

View BVdb publication page

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DNMT3A mutation is associated with increased age and adverse outcome in adult T-cell acute lymphoblastic leukemia.

Haematologica

Bond, Jonathan J; Touzart, Aurore A; Leprêtre, Stéphane S; Graux, Carlos C; Bargetzi, Mario M; Lhermitte, Ludovic L; Hypolite, Guillaume G; Leguay, Thibaut T; Hicheri, Yosr Y; Guillerm, Gaëlle G; Bilger, Karin K; Lhéritier, Véronique V; Hunault, Mathilde M; Huguet, Françoise F; Chalandon, Yves Y; Ifrah, Norbert N; Macintyre, Elizabeth E; Dombret, Hervé H; Asnafi, Vahid V; Boissel, Nicolas N

Publication Date: 2019-08

Variant appearance in text: DNMT3A: P385L

PubMed Link: 30655366

Variant Present in the following documents:

• Main text
• 1041617.pdf

View BVdb publication page

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research

Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N

Publication Date: 2018

Variant appearance in text: DNMT3A: 1154C>T; Pro385Leu

PubMed Link: 29900417

Variant Present in the following documents:

• Main text
• wellcomeopenres-3-15708.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: DNMT3A: 1154C>T; P385L

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: DNMT3A: 1154C>T; P385L

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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