Ein Unternehmen der RHÖN-KLINIKUM AG


Recent Publications:


Schwartz U, Németh A, Diermeier S, Exler JH, Hansch S, Maldonado R, Heizinger L, Merkl R, Längst G. Characterizing the nuclease accessibility of DNA in human cells to map higher order structures of chromatin.

Nucleic Acids Res. 2018 Nov 28. doi: 10.1093/nar/gky1203. PMID: 30496478


Haslinger D, Waltes R, Yousaf A, Lindlar S, Schneider I, Lim CK, Tsai MM, Garvalov BK, Acker-Palmer A, Krezdorn N, Rotter B, Acker T, Guillemin GJ, Fulda S, Freitag CM, Chiocchetti AG. Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model.

Mol Autism. 2018 Nov 6;9:56. doi: 10.1186/s13229-018-0239-z. PMID: 30443311


Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet. 2018 Nov 10. pii: S1769-7212(18)30265-9. doi: 10.1016/j.ejmg.2018.11.006 PMID: 30423443


Andreiuolo F, Varlet P, Tauziède-Espariat A, Jünger ST, Dörner E, et al. Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features.

Brain Pathol. 2018 Sep 23. doi: 10.1111/bpa.12659. PMID: 30246434


Rupp S, Felimban M, Schänzer A, Schranz D, Marschall C, Zenker M, Logeswaran T, Neuhäuser C, Thul J, Jux C, Hahn A. Genetic basis of hypertrophic cardiomyopathy in children.

Clin Res Cardiol. 2018 Aug 13. doi: 10.1007/s00392-018-1354-8. PMID: 30105547


Wang H, Schänzer A, Kampschulte B, Daimagüler HS, Logeswaran T, Schlierbach H, Petzinger J, Ehrhardt H, Hahn A, Cirak S. A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

Acta Neuropathol Commun. 2018 Aug 29;6(1):83. doi: 10.1186/s40478-018-0589-y. PMID: 30157964


Segarra M, Aburto MR, Cop F, Llaó-Cid C, Härtl R, Damm M, Bethani I, Parrilla MHusainie D, Schänzer A, Schlierbach H, Acker T, Mohr L, Torres-Masjoan L, Ritter M, Acker-Palmer A. Endothelial Dab1 signaling orchestrates neuro-glia-vessel communication in the central nervous system.

Science. 2018 Aug 24;361(6404). pii: eaao2861. doi: 10.1126/science.aao2861. PMID: 30139844


Reinhardt A, Stichel D, Schrimpf D, Sahm F, et al. Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations.

Acta Neuropathol. 2018 Aug;136(2):273-291. doi: 10.1007/s00401-018-1837-8. PMID: 29564591


Prokosch HU, Acker T, Bernarding J, Binder H, Boeker M, Boerries M, Daumke P, Ganslandt T, Hesser J, Höning G, Neumaier M, Marquardt K, Renz H, Rothkötter HJ, Schade-Brittinger C, Schmücker P, Schüttler J, Sedlmayr M, Serve H, Sohrabi K, Storf H. MIRACUM: Medical Informatics in Research and Care in University Medicine.

Methods Inf Med. 2018 Jul;57(S 01):e82-e91. doi: 10.3414/ME17-02-0025. PMID: 30016814


Németh A, Grummt I. Dynamic regulation of nucleolar architecture.

Curr Opin Cell Biol. 2018 Jun;52:105-111. doi: 10.1016/j.ceb.2018.02.013. PMID: 29529563


Dopeso H, Jiao HK, Cuesta AM, Henze AT, Jurida L, Kracht M, Acker-Palmer A, Garvalov BK, Acker T. PHD3 Controls Lung Cancer Metastasis and Resistance to EGFR Inhibitors through TGFα.

Cancer Res. 2018 Apr 1;78(7):1805-1819. doi: 10.1158/0008-5472.CAN-17-1346. PMID: 29339541


Schänzer A, Rupp S, Gräf S, Zengeler D, Jux C, Akintürk H, Gulatz L, Mazhari N, Acker T, Van Coster R, Garvalov BK, Hahn A. Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.

Mol Genet Metab. 2018 Mar;123(3):388-399. doi: 10.1016/j.ymgme.2018.01.001. PMID: 29338979


Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F,et al. DNA methylation-based classification of central nervous system tumours.

Nature. 2018 Mar 22;555(7697):469-474. doi: 10.1038/nature26000. PMID: 29539639


Schänzer A, Rupp S, Garvalov B, Hahn A. Clinicopathological features associated with the BAG3-Pro209Leu mutation.

Mol Genet Metab Rep. 2018 Feb 16;15:64. doi: 10.1016/j.ymgmr.2018.02.004. PMID: 29552495


Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom T, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. PMID: 29260357


Böğürcü N, Seidel S, Garvalov BK, Acker T. Analysis of Hypoxia and the Hypoxic Response in Tumor Xenografts.

Methods Mol Biol. 2018;1742:283-300. doi: 10.1007/978-1-4939-7665-2_25. PMID: 29330809


Hinderer M, Boerries M, Boeker M, Neumaier M, Loubal FP, Acker T, Brunner M, Prokosch HU, Christoph J. Implementing Pharmacogenomic Clinical Decision Support into German Hospitals.

Stud Health Technol Inform. 2018;247:870-874. PMID: 29678085


Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A. Quantification of muscle pathology in infantile Pompe disease.

Neuromuscul Disord. 2017 Feb;27(2):141-152. doi: 10.1016/j.nmd.2016.10.010. PMID: 27927596


Filatova A, Seidel S, Böğürcü N, Gräf S, Garvalov BK, Acker T. Acidosis Acts through HSP90 in a PHD/VHL-Independent Manner to Promote HIF Function and Stem Cell Maintenance in Glioma.

Cancer Res. 2016 Oct 1;76(19):5845-5856. PMID: 27488520


Depner C, Zum Buttel H, Böğürcü N, Cuesta AM, Aburto MR, Seidel S, Finkelmeier F, Foss F, Hofmann J, Kaulich K, Barbus S, Segarra M, Reifenberger G, Garvalov BK, Acker T, Acker-Palmer A. EphrinB2 repression through ZEB2 mediates tumour invasion and anti-angiogenic resistance.

Nat Commun. 2016 Jul 29; 7:12329. doi: 10.1038/ncomms12329. PMID: 27470974


Garvalov BK, Acker T. Implications of Oxygen Homeostasis for Tumor Biology and Treatment.

Adv Exp Med Biol. 2016; 903:169-85. doi: 10.1007/978-1-4899-7678-9_12. PMID: 27343096


Schänzer A, Faas D, Rust S, Podskarbi T, van Kuilenburg AB, Scarpa M, Kunze A, Marquardt T, Hahn A. Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).

Klin Padiatr. 2016 Sep;228(5):277-9. doi: 10.1055/s-0042-109399. PMID: 27442143


Seidel S, Garvalov BK, Acker T. Isolation and culture of primary glioblastoma cells from human tumor specimens.

Methods Mol Biol. 2015; 1235:263-75. doi: 10.1007/978-1-4939-1785-3_19.PMID: 25388399


Schänzer A, Kimmich C, Röcken C, Haverkamp T, Weidner I, Acker T, Krämer HH. A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report.

J Med Case Rep. 2014 Dec 4;8(1):403. doi: 10.1186/1752-1947-8-403. PMID: 25471118 


Henze AT, Garvalov BK, Seidel S, Cuesta AM, Ritter M, Filatova A, Foss F, Dopeso H, Essmann CL, Maxwell PH, Reifenberger G, Carmeliet P, Acker-Palmer A, Acker T. Loss of PHD3 allows tumours to overcome hypoxic growth inhibition and sustain proliferation through EGFR.

Nat Commun. 2014 Nov 25; 5:5582. doi: 10.1038/ncomms6582. PMID: 25420773


Garvalov BK, Foss F, Henze AT, Bethani I, Gräf-Höchst S, Singh D, Filatova A, Dopeso H, Seidel S, Damm M, Acker-Palmer A, Acker T. PHD3 regulates EGFR internalization and signalling in tumours.

Nat Commun. 2014 Nov 25; 5:5577. doi: 10.1038/ncomms6577. PMID: 25420589


Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, Hahn A. Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.

Brain Pathol. 2014 Apr;24(3):270-9. doi: 10.1111/bpa.12117. Epub 2014 Jan 29. PMID: 24372704


Filatova A, Acker T, Garvalov BK. The cancer stem cell niche(s): the crosstalk between glioma stem cells and their microenvironment.

Biochim Biophys Acta. 2013 Feb;1830(2):2496-508. PMID: 23079585


Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

Klin Padiatr. 2012 Jul;224(4):256-8. PMID: 22549471


Garvalov BK, Acker T. Cancer stem cells: a new framework for the design of tumor therapies.

J Mol Med. 2011 Feb;89(2):95-107. PMID: 20890588


Henze AT, Acker T. Feedback regulators of hypoxia-inducible factors and their role in cancer biology.

Cell Cycle 2010; 9(14):2749-63. PMID: 20603601


Henze AT, Riedel J, Diem T, Wenner J, Flamme I, Pouyseggur J, Plate KH, Acker T. Prolyl hydroxylases 2 and 3 act in gliomas as protective negative feedback regulators of hypoxia-inducible factors.

Cancer Res. 2010; 70(1):357-66. PMID: 20028863 


Sawamiphak S, Seidel S, Essmann CL, Wilkinson GA, Pitulescu ME, Acker T, Acker-Palmer A. Ephrin-B2 regulates VEGFR2 function in developmental and tumour angiogenesis.

Nature 2010; 465(7297):487-91. PMID: 20445540


Seidel S, Garvalov BK, Wirta V, von Stechow L, Schänzer A, Meletis K, Wolter M, Sommerlad D, Henze AT, Nistér M, Reifenberger G, Lundeberg J, Frisén J, Acker T.  A hypoxic niche regulates glioblastoma stem cells through hypoxia inducible factor 2alpha.

Brain. 2010; 133:983-95. PMID: 20375133