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High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response.
Remke M, Pfister S, Kox C, Toedt G, Becker N, Benner A, Werft W, Breit S, Liu S, Engel F, Wittmann A, Zimmermann M, Stanulla M, Schrappe M, Ludwig WD, Bartram CR, Radlwimmer B, Muckenthaler MU, Lichter P, Kulozik AE. Remke M, et al. Among authors: muckenthaler mu. Blood. 2009 Jul 30;114(5):1053-62. doi: 10.1182/blood-2008-10-186536. Epub 2009 Apr 30. Blood. 2009. PMID: 19406988 Free article.
SMAD7 controls iron metabolism as a potent inhibitor of hepcidin expression.
Mleczko-Sanecka K, Casanovas G, Ragab A, Breitkopf K, Müller A, Boutros M, Dooley S, Hentze MW, Muckenthaler MU. Mleczko-Sanecka K, et al. Among authors: muckenthaler mu. Blood. 2010 Apr 1;115(13):2657-65. doi: 10.1182/blood-2009-09-238105. Epub 2009 Dec 29. Blood. 2010. PMID: 20040761 Free article.
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population.
Sommerburg O, Lindner M, Muckenthaler M, Kohlmueller D, Leible S, Feneberg R, Kulozik AE, Mall MA, Hoffmann GF. Sommerburg O, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S263-71. doi: 10.1007/s10545-010-9174-7. Epub 2010 Aug 17. J Inherit Metab Dis. 2010. PMID: 20714932
230 results