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Items: 27

1.

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia.

Richter-Pechańska P, Kunz JB, Bornhauser B, von Knebel Doeberitz C, Rausch T, Erarslan-Uysal B, Assenov Y, Frismantas V, Marovca B, Waszak SM, Zimmermann M, Seemann J, Happich M, Stanulla M, Schrappe M, Cario G, Escherich G, Bakharevich K, Kirschner-Schwabe R, Eckert C, Muckenthaler MU, Korbel JO, Bourquin JP, Kulozik AE.

EMBO Mol Med. 2018 Nov 2. pii: e9443. doi: 10.15252/emmm.201809443. [Epub ahead of print]

2.

Structure and Mechanisms of NT5C2 Mutations Driving Thiopurine Resistance in Relapsed Lymphoblastic Leukemia.

Dieck CL, Tzoneva G, Forouhar F, Carpenter Z, Ambesi-Impiombato A, Sánchez-Martín M, Kirschner-Schwabe R, Lew S, Seetharaman J, Tong L, Ferrando AA.

Cancer Cell. 2018 Jul 9;34(1):136-147.e6. doi: 10.1016/j.ccell.2018.06.003.

PMID:
29990496
3.

Author Correction: The landscape of genomic alterations across childhood cancers.

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM; ICGC PedBrain-Seq Project; ICGC MMML-Seq Project.

Nature. 2018 Jul;559(7714):E10. doi: 10.1038/s41586-018-0167-2.

PMID:
29875405
4.

The landscape of genomic alterations across childhood cancers.

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H; ICGC PedBrain-Seq Project; ICGC MMML-Seq Project, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM.

Nature. 2018 Mar 15;555(7696):321-327. doi: 10.1038/nature25480. Epub 2018 Feb 28. Erratum in: Nature. 2018 Jul;559(7714):E10.

PMID:
29489754
5.

Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemia.

Tzoneva G, Dieck CL, Oshima K, Ambesi-Impiombato A, Sánchez-Martín M, Madubata CJ, Khiabanian H, Yu J, Waanders E, Iacobucci I, Sulis ML, Kato M, Koh K, Paganin M, Basso G, Gastier-Foster JM, Loh ML, Kirschner-Schwabe R, Mullighan CG, Rabadan R, Ferrando AA.

Nature. 2018 Jan 25;553(7689):511-514. doi: 10.1038/nature25186. Epub 2018 Jan 17.

6.

Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

Schwab C, Nebral K, Chilton L, Leschi C, Waanders E, Boer JM, Žaliová M, Sutton R, Öfverholm II, Ohki K, Yamashita Y, Groeneveld-Krentz S, Froňková E, Bakkus M, Tchinda J, Barbosa TDC, Fazio G, Mlynarski W, Pastorczak A, Cazzaniga G, Pombo-de-Oliveira MS, Trka J, Kirschner-Schwabe R, Imamura T, Barbany G, Stanulla M, Attarbaschi A, Panzer-Grümayer R, Kuiper RP, den Boer ML, Cavé H, Moorman AV, Harrison CJ, Strehl S.

Blood Adv. 2017 Aug 14;1(19):1473-1477. doi: 10.1182/bloodadvances.2017006734. eCollection 2017 Aug 22.

7.

NOTCH1 mutation, TP53 alteration and myeloid antigen expression predict outcome heterogeneity in children with first relapse of T-cell acute lymphoblastic leukemia.

Hof J, Kox C, Groeneveld-Krentz S, Bandapalli OR, Karawajew L, Schedel K, Kunz JB, Eckert C, Ludwig WD, Ratei R, Rhein P, Henze G, Muckenthaler MU, Kulozik AE, von Stackelberg A, Kirschner-Schwabe R.

Haematologica. 2017 Jul;102(7):e249-e252. doi: 10.3324/haematol.2016.157792. Epub 2017 Mar 30. No abstract available.

8.

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P, Kunz JB, Hof J, Zimmermann M, Rausch T, Bandapalli OR, Orlova E, Scapinello G, Sagi JC, Stanulla M, Schrappe M, Cario G, Kirschner-Schwabe R, Eckert C, Benes V, Korbel JO, Muckenthaler MU, Kulozik AE.

Blood Cancer J. 2017 Feb 3;7(2):e523. doi: 10.1038/bcj.2017.3.

9.

Mutational landscape, clonal evolution patterns, and role of RAS mutations in relapsed acute lymphoblastic leukemia.

Oshima K, Khiabanian H, da Silva-Almeida AC, Tzoneva G, Abate F, Ambesi-Impiombato A, Sanchez-Martin M, Carpenter Z, Penson A, Perez-Garcia A, Eckert C, Nicolas C, Balbin M, Sulis ML, Kato M, Koh K, Paganin M, Basso G, Gastier-Foster JM, Devidas M, Loh ML, Kirschner-Schwabe R, Palomero T, Rabadan R, Ferrando AA.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11306-11311. Epub 2016 Sep 21.

10.

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation.

Kunz JB, Rausch T, Bandapalli OR, Eilers J, Pechanska P, Schuessele S, Assenov Y, Stütz AM, Kirschner-Schwabe R, Hof J, Eckert C, von Stackelberg A, Schrappe M, Stanulla M, Koehler R, Avigad S, Elitzur S, Handgretinger R, Benes V, Weischenfeldt J, Korbel JO, Muckenthaler MU, Kulozik AE.

Haematologica. 2015 Nov;100(11):1442-50. doi: 10.3324/haematol.2015.129692. Epub 2015 Aug 20.

11.

Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.

Li B, Li H, Bai Y, Kirschner-Schwabe R, Yang JJ, Chen Y, Lu G, Tzoneva G, Ma X, Wu T, Li W, Lu H, Ding L, Liang H, Huang X, Yang M, Jin L, Kang H, Chen S, Du A, Shen S, Ding J, Chen H, Chen J, von Stackelberg A, Gu L, Zhang J, Ferrando A, Tang J, Wang S, Zhou BB.

Nat Med. 2015 Jun;21(6):563-71. doi: 10.1038/nm.3840. Epub 2015 May 11.

12.

Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition.

Irving J, Matheson E, Minto L, Blair H, Case M, Halsey C, Swidenbank I, Ponthan F, Kirschner-Schwabe R, Groeneveld-Krentz S, Hof J, Allan J, Harrison C, Vormoor J, von Stackelberg A, Eckert C.

Blood. 2014 Nov 27;124(23):3420-30. doi: 10.1182/blood-2014-04-531871. Epub 2014 Sep 24.

13.

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse.

Bandapalli OR, Schuessele S, Kunz JB, Rausch T, Stütz AM, Tal N, Geron I, Gershman N, Izraeli S, Eilers J, Vaezipour N, Kirschner-Schwabe R, Hof J, von Stackelberg A, Schrappe M, Stanulla M, Zimmermann M, Koehler R, Avigad S, Handgretinger R, Frismantas V, Bourquin JP, Bornhauser B, Korbel JO, Muckenthaler MU, Kulozik AE.

Haematologica. 2014 Oct;99(10):e188-92. doi: 10.3324/haematol.2014.104992. Epub 2014 Jun 27. No abstract available.

14.

Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia.

Meissner B, Bartram T, Eckert C, Trka J, Panzer-Grümayer R, Hermanova I, Ellinghaus E, Franke A, Möricke A, Schrauder A, Teigler-Schlegel A, Dörge P, von Stackelberg A, Basso G, Bartram CR, Kirschner-Schwabe R, Bornhäuser B, Bourquin JP, Cazzaniga G, Hauer J, Attarbaschi A, Izraeli S, Zaliova M, Cario G, Zimmermann M, Avigad S, Sokalska-Duhme M, Metzler M, Schrappe M, Koehler R, Te Kronnie G, Stanulla M.

Hum Mol Genet. 2014 Feb 1;23(3):590-601. doi: 10.1093/hmg/ddt447. Epub 2013 Sep 17.

15.

Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.

Tzoneva G, Perez-Garcia A, Carpenter Z, Khiabanian H, Tosello V, Allegretta M, Paietta E, Racevskis J, Rowe JM, Tallman MS, Paganin M, Basso G, Hof J, Kirschner-Schwabe R, Palomero T, Rabadan R, Ferrando A.

Nat Med. 2013 Mar;19(3):368-71. doi: 10.1038/nm.3078. Epub 2013 Feb 3.

16.

Prognostic value of genetic alterations in children with first bone marrow relapse of childhood B-cell precursor acute lymphoblastic leukemia.

Krentz S, Hof J, Mendioroz A, Vaggopoulou R, Dörge P, Lottaz C, Engelmann JC, Groeneveld TW, Körner G, Seeger K, Hagemeier C, Henze G, Eckert C, von Stackelberg A, Kirschner-Schwabe R.

Leukemia. 2013 Feb;27(2):295-304. doi: 10.1038/leu.2012.155. Epub 2012 Jun 13.

PMID:
22699455
17.

High VLA-4 expression is associated with adverse outcome and distinct gene expression changes in childhood B-cell precursor acute lymphoblastic leukemia at first relapse.

Shalapour S, Hof J, Kirschner-Schwabe R, Bastian L, Eckert C, Prada J, Henze G, von Stackelberg A, Seeger K.

Haematologica. 2011 Nov;96(11):1627-35. doi: 10.3324/haematol.2011.047993. Epub 2011 Aug 9.

18.

Mutations and deletions of the TP53 gene predict nonresponse to treatment and poor outcome in first relapse of childhood acute lymphoblastic leukemia.

Hof J, Krentz S, van Schewick C, Körner G, Shalapour S, Rhein P, Karawajew L, Ludwig WD, Seeger K, Henze G, von Stackelberg A, Hagemeier C, Eckert C, Kirschner-Schwabe R.

J Clin Oncol. 2011 Aug 10;29(23):3185-93. doi: 10.1200/JCO.2011.34.8144. Epub 2011 Jul 11.

PMID:
21747090
19.

Very early/early relapses of acute lymphoblastic leukemia show unexpected changes of clonal markers and high heterogeneity in response to initial and relapse treatment.

Eckert C, Flohr T, Koehler R, Hagedorn N, Moericke A, Stanulla M, Kirschner-Schwabe R, Cario G, Stackelberg A, Bartram CR, Henze G, Schrappe M, Schrauder A.

Leukemia. 2011 Aug;25(8):1305-13. doi: 10.1038/leu.2011.89. Epub 2011 May 6.

PMID:
21546902
20.

CD11b is a therapy resistance- and minimal residual disease-specific marker in precursor B-cell acute lymphoblastic leukemia.

Rhein P, Mitlohner R, Basso G, Gaipa G, Dworzak MN, Kirschner-Schwabe R, Hagemeier C, Stanulla M, Schrappe M, Ludwig WD, Karawajew L, Ratei R.

Blood. 2010 May 6;115(18):3763-71. doi: 10.1182/blood-2009-10-247585. Epub 2010 Mar 12.

21.

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Brunner S, Skosyrski S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Glaus E, Luhmann UF, Rüther K, Berger W.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.

22.

Somatic mitochondrial mutations in pilocytic astrocytoma.

Lueth M, Wronski L, Giese A, Kirschner-Schwabe R, Pietsch T, von Deimling A, Henze G, Kurtz A, Driever PH.

Cancer Genet Cytogenet. 2009 Jul;192(1):30-5. doi: 10.1016/j.cancergencyto.2009.03.002.

PMID:
19480934
23.

Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia.

Kawamata N, Ogawa S, Seeger K, Kirschner-Schwabe R, Huynh T, Chen J, Megrabian N, Harbott J, Zimmermann M, Henze G, Schrappe M, Bartram CR, Koeffler HP.

Int J Oncol. 2009 Jun;34(6):1603-12.

PMID:
19424578
24.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.

25.

Gene expression shift towards normal B cells, decreased proliferative capacity and distinct surface receptors characterize leukemic blasts persisting during induction therapy in childhood acute lymphoblastic leukemia.

Rhein P, Scheid S, Ratei R, Hagemeier C, Seeger K, Kirschner-Schwabe R, Moericke A, Schrappe M, Spang R, Ludwig WD, Karawajew L.

Leukemia. 2007 May;21(5):897-905. Epub 2007 Mar 1.

PMID:
17330098
26.

Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion.

Giese A, Kirschner-Schwabe R, Blumchen K, Wronski L, Shalapour S, Prada J, Driever PH, Brauer M, Schuelke M, Henze G, Seeger K.

Am J Med Genet A. 2007 Feb 1;143A(3):285-8. No abstract available.

PMID:
17219391
27.

Expression of late cell cycle genes and an increased proliferative capacity characterize very early relapse of childhood acute lymphoblastic leukemia.

Kirschner-Schwabe R, Lottaz C, Tödling J, Rhein P, Karawajew L, Eckert C, von Stackelberg A, Ungethüm U, Kostka D, Kulozik AE, Ludwig WD, Henze G, Spang R, Hagemeier C, Seeger K.

Clin Cancer Res. 2006 Aug 1;12(15):4553-61.

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