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Items: 15

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.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.

Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases.

Br J Haematol. 2018 Oct 18. doi: 10.1111/bjh.15600. [Epub ahead of print]

PMID:
30334577
3.

Expression of CD56 defines a distinct subgroup in childhood T-ALL with inferior outcome. Results of the ALL-BFM 2000 trial.

Fuhrmann S, Schabath R, Möricke A, Zimmermann M, Kunz JB, Kulozik AE, Ludwig WD, Schrappe M, Karawajew L, Ratei R.

Br J Haematol. 2018 Oct;183(1):96-103. doi: 10.1111/bjh.15503. Epub 2018 Jul 20.

PMID:
30028023
4.

MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB.

Cordas Dos Santos DM, Eilers J, Sosa Vizcaino A, Orlova E, Zimmermann M, Stanulla M, Schrappe M, Börner K, Grimm D, Muckenthaler MU, Kulozik AE, Kunz JB.

BMC Cancer. 2018 Jun 18;18(1):663. doi: 10.1186/s12885-018-4525-0.

5.

The epidemiology of sickle cell disease in Germany following recent large-scale immigration.

Kunz JB, Cario H, Grosse R, Jarisch A, Lobitz S, Kulozik AE.

Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26550. Epub 2017 Apr 6.

PMID:
28383793
6.

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.

7.

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.

8.

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hübschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE.

Clin Immunol. 2017 Feb;175:51-55. doi: 10.1016/j.clim.2016.11.016. Epub 2016 Dec 2.

PMID:
27916705
9.

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE.

Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12.

PMID:
26658910
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.

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.

12.

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways.

Ivanov PV, Gehring NH, Kunz JB, Hentze MW, Kulozik AE.

EMBO J. 2008 Mar 5;27(5):736-47. doi: 10.1038/emboj.2008.17. Epub 2008 Feb 7.

13.

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation.

Kunz JB, Neu-Yilik G, Hentze MW, Kulozik AE, Gehring NH.

RNA. 2006 Jun;12(6):1015-22. Epub 2006 Apr 6.

14.

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements.

Gehring NH, Kunz JB, Neu-Yilik G, Breit S, Viegas MH, Hentze MW, Kulozik AE.

Mol Cell. 2005 Oct 7;20(1):65-75.

15.

Determination of four sequential stages during microautophagy in vitro.

Kunz JB, Schwarz H, Mayer A.

J Biol Chem. 2004 Mar 12;279(11):9987-96. Epub 2003 Dec 15.

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