RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
Key Points. Germline RUNX1 mutations lead to significant phenotypic heterogeneity in families.Germline RUNX1-mutated acute myeloid leukemia has a different som
Gespeichert in:
| Hauptverfasser: | , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
24 March 2020
|
| In: |
Blood advances
Year: 2020, Jahrgang: 4, Heft: 6, Pages: 1131-1144 |
| ISSN: | 2473-9537 |
| DOI: | 10.1182/bloodadvances.2019000901 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1182/bloodadvances.2019000901 Verlag, lizenzpflichtig, Volltext: https://ashpublications.org/bloodadvances/article/4/6/1131/452758/RUNX1-mutated-families-show-phenotype |
| Verfasserangaben: | Anna L. Brown, Peer Arts, Catherine L. Carmichael, Milena Babic, Julia Dobbins, Chan-Eng Chong, Andreas W. Schreiber, Jinghua Feng, Kerry Phillips, Paul P. S. Wang, Thuong Ha, Claire C. Homan, Sarah L. King-Smith, Lesley Rawlings, Cassandra Vakulin, Andrew Dubowsky, Jessica Burdett, Sarah Moore, Grace McKavanagh, Denae Henry, Amanda Wells, Belinda Mercorella, Mario Nicola, Jeffrey Suttle, Ella Wilkins, Xiao-Chun Li, Joelle Michaud, Peter Brautigan, Ping Cannon, Meryl Altree, Louise Jaensch, Miriam Fine, Carolyn Butcher, Richard J. D’Andrea, Ian D. Lewis, Devendra K. Hiwase, Elli Papaemmanuil, Marshall S. Horwitz, Georges Natsoulis, Hugh Y. Rienhoff, Nigel Patton, Sally Mapp, Rachel Susman, Susan Morgan, Julian Cooney, Mark Currie, Uday Popat, Tilmann Bochtler, Shai Izraeli, Kenneth Bradstock, Lucy A. Godley, Alwin Krämer, Stefan Fröhling, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Nicola K. Poplawski, Christopher N. Hahn, and Hamish S. Scott |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1695804376 | ||
| 003 | DE-627 | ||
| 005 | 20220818052342.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200423s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1182/bloodadvances.2019000901 |2 doi | |
| 035 | |a (DE-627)1695804376 | ||
| 035 | |a (DE-599)KXP1695804376 | ||
| 035 | |a (OCoLC)1341316520 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Brown, Anna L. |e VerfasserIn |0 (DE-588)1208867253 |0 (DE-627)1695805380 |4 aut | |
| 245 | 1 | 0 | |a RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML |c Anna L. Brown, Peer Arts, Catherine L. Carmichael, Milena Babic, Julia Dobbins, Chan-Eng Chong, Andreas W. Schreiber, Jinghua Feng, Kerry Phillips, Paul P. S. Wang, Thuong Ha, Claire C. Homan, Sarah L. King-Smith, Lesley Rawlings, Cassandra Vakulin, Andrew Dubowsky, Jessica Burdett, Sarah Moore, Grace McKavanagh, Denae Henry, Amanda Wells, Belinda Mercorella, Mario Nicola, Jeffrey Suttle, Ella Wilkins, Xiao-Chun Li, Joelle Michaud, Peter Brautigan, Ping Cannon, Meryl Altree, Louise Jaensch, Miriam Fine, Carolyn Butcher, Richard J. D’Andrea, Ian D. Lewis, Devendra K. Hiwase, Elli Papaemmanuil, Marshall S. Horwitz, Georges Natsoulis, Hugh Y. Rienhoff, Nigel Patton, Sally Mapp, Rachel Susman, Susan Morgan, Julian Cooney, Mark Currie, Uday Popat, Tilmann Bochtler, Shai Izraeli, Kenneth Bradstock, Lucy A. Godley, Alwin Krämer, Stefan Fröhling, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Nicola K. Poplawski, Christopher N. Hahn, and Hamish S. Scott |
| 264 | 1 | |c 24 March 2020 | |
| 300 | |a 14 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 23.04.2020 | ||
| 520 | |a Key Points. Germline RUNX1 mutations lead to significant phenotypic heterogeneity in families.Germline RUNX1-mutated acute myeloid leukemia has a different som | ||
| 700 | 1 | |a Bochtler, Tilmann |d 1975- |e VerfasserIn |0 (DE-588)128398957 |0 (DE-627)372639925 |0 (DE-576)187323909 |4 aut | |
| 700 | 1 | |a Fröhling, Stefan |d 1969- |e VerfasserIn |0 (DE-588)120890046 |0 (DE-627)080950302 |0 (DE-576)188733930 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Blood advances |d Washington, DC : American Society of Hematology, 2016 |g 4(2020), 6, Seite 1131-1144 |h Online-Ressource |w (DE-627)873588312 |w (DE-600)2876449-3 |w (DE-576)48043249X |x 2473-9537 |7 nnas |a RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML |
| 773 | 1 | 8 | |g volume:4 |g year:2020 |g number:6 |g pages:1131-1144 |g extent:14 |a RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML |
| 856 | 4 | 0 | |u https://doi.org/10.1182/bloodadvances.2019000901 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://ashpublications.org/bloodadvances/article/4/6/1131/452758/RUNX1-mutated-families-show-phenotype |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200423 | ||
| 993 | |a Article | ||
| 994 | |a 2020 | ||
| 998 | |g 120890046 |a Fröhling, Stefan |m 120890046:Fröhling, Stefan |d 50000 |e 50000PF120890046 |k 0/50000/ |p 53 | ||
| 998 | |g 128398957 |a Bochtler, Tilmann |m 128398957:Bochtler, Tilmann |d 910000 |d 910100 |e 910000PB128398957 |e 910100PB128398957 |k 0/910000/ |k 1/910000/910100/ |p 48 | ||
| 999 | |a KXP-PPN1695804376 |e 3631308000 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Anna L. Brown, Peer Arts, Catherine L. Carmichael, Milena Babic, Julia Dobbins, Chan-Eng Chong, Andreas W. Schreiber, Jinghua Feng, Kerry Phillips, Paul P. S. Wang, Thuong Ha, Claire C. Homan, Sarah L. King-Smith, Lesley Rawlings, Cassandra Vakulin, Andrew Dubowsky, Jessica Burdett, Sarah Moore, Grace McKavanagh, Denae Henry, Amanda Wells, Belinda Mercorella, Mario Nicola, Jeffrey Suttle, Ella Wilkins, Xiao-Chun Li, Joelle Michaud, Peter Brautigan, Ping Cannon, Meryl Altree, Louise Jaensch, Miriam Fine, Carolyn Butcher, Richard J. D’Andrea, Ian D. Lewis, Devendra K. Hiwase, Elli Papaemmanuil, Marshall S. Horwitz, Georges Natsoulis, Hugh Y. Rienhoff, Nigel Patton, Sally Mapp, Rachel Susman, Susan Morgan, Julian Cooney, Mark Currie, Uday Popat, Tilmann Bochtler, Shai Izraeli, Kenneth Bradstock, Lucy A. Godley, Alwin Krämer, Stefan Fröhling, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Nicola K. Poplawski, Christopher N. Hahn, and Hamish S. Scott"]},"language":["eng"],"recId":"1695804376","person":[{"given":"Anna L.","display":"Brown, Anna L.","family":"Brown","role":"aut"},{"role":"aut","family":"Bochtler","display":"Bochtler, Tilmann","given":"Tilmann"},{"display":"Fröhling, Stefan","given":"Stefan","role":"aut","family":"Fröhling"}],"note":["Gesehen am 23.04.2020"],"title":[{"title_sort":"RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML","title":"RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"id":{"eki":["1695804376"],"doi":["10.1182/bloodadvances.2019000901"]},"physDesc":[{"extent":"14 S."}],"relHost":[{"note":["Gesehen am 27.04.21"],"pubHistory":["Vol. 1, iss. 1 (November 2016)-"],"language":["eng"],"part":{"issue":"6","extent":"14","pages":"1131-1144","text":"4(2020), 6, Seite 1131-1144","year":"2020","volume":"4"},"disp":"RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AMLBlood advances","type":{"bibl":"periodical","media":"Online-Ressource"},"recId":"873588312","name":{"displayForm":["American Society of Hematology"]},"origin":[{"publisherPlace":"Washington, DC","publisher":"American Society of Hematology","dateIssuedDisp":"[2016]-"}],"title":[{"title_sort":"Blood advances","title":"Blood advances"}],"id":{"issn":["2473-9537"],"eki":["873588312"],"zdb":["2876449-3"]},"physDesc":[{"extent":"Online-Ressource"}]}],"origin":[{"dateIssuedKey":"2020","dateIssuedDisp":"24 March 2020"}]} | ||
| SRT | |a BROWNANNALRUNX1MUTAT2420 | ||