Forschung, klinische Studien und ausgewählte Publikationen
Forschung
Im Bereich der Forschung zu AA und BMFS, insbesondere zu Telomererkrankungen ist der Standort Aachen seit vielen Jahren international sichtbar und durch zahlreiche wissenschaftliche Publikationen ausgewiesen. Die Arbeitsgruppe verfolgt sowohl grundlagenwissenschaftliche als auch translationale Forschungsansätze und ist in eine Vielzahl nationaler und internationaler Kooperationen eingebunden. Weitere Informationen finden Sie im Bereich Forschung der Medizinischen Klinik IV.
Klinische Studien
Eine Übersicht der aktiven klinischen Studien in der Medizinischen Klinik IV finden Sie auf der Seite unserer Studienzentrale.
Ausgewählte Publikationen
MDM4 HAPLOINSUFFICIENCY LEADS TO P53-MEDIATED BONE MARROW FAILURE. Sharma R, Bhoopalan SV, Meyer R, Han L, Beesetti S, Liu N, Singh P, Palmer LE, Hansen BS, Khiami M, Larcher L, Begemann M, Corbacioglu S, Heller L, Jakob M, Ju Y, Sahoo SS, Gray N, Gheorghe G, Elbracht M, Khurana C, Kirschner M, Kurth I, Erlacher M, Brümmendorf TH, Soulier J, Pruett-Miller SM, Beier F, Wlodarski MW. Blood. 2026 Feb 27:blood.2024027180.
Application of machine learning in the diagnostic work-up of telomere biology disorders. Massaccesi E, Arcuri L, Cavalca G, Beier F, Vankann L, Lupia M, Cangelosi D, Grossi A, Lanciotti M, Pierri F, Fioredda F, MianoM, Dell'Orso G, Giarratana MC, Guardo D, Bagnasco F, Pestarino S, Binelli M, Tometten M, Meyer R, Frenzel F, Coviello D, Mariani E, Palmisani E, Kainat S, Ceccherini I, Uva P, Brümmendorf TH, Dufour C. Hemasphere. 2026 Jan 11;10(1)
Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders. Güzel N, Schumacher Y, Kricheldorf K, Vieri M, Kirschner M, Gerhard-le Gars AC, Panse J, Tometten M, Walter J, Gehrig A, Kunstmann E, Holthöfer L, Schweiger S, Wolff D, Kraft F, Elbracht M, Kurth I, Brümmendorf TH, Meyer R, Beier F. Blood Cancer J. 2025 Aug 25;15(1):142.
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort. Tometten M, Beier F, Kirschner M, Schumacher Y, Walter J, Vieri M, Kricheldorf K, Röth A, Platzbecker U, Radsak M, Schafhausen P, Corbacioglu S, Höchsmann B, Balabanov S, Hinze C, Chromik J, Heuser M, Kreuter M, Wlodarski MW, Elbracht M, Kurth I, Koschmieder S, Panse J, Isfort S, Meyer R, Brümmendorf TH. Blood Adv. 2025 May 13;9(9)
Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment. Rolles B, Tometten M, Meyer R, Kirschner M, Beier F, Brümmendorf TH. Transfus Med Hemother. 2024 Jul 30;51(5):292-309.
Telomere biology disorders may manifest as common variable immunodeficiency (CVID). Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B.. Clin Immunol. 2023 Dec;257:109837.
Telomere length dynamics measured by flow-FISH in patients with obesity undergoing bariatric surgery. Rolles B, Ferreira MSV, Vieri M, Rheinwalt KP, Schmitz SM, Alizai PH, Neumann U, Brümmendorf TH, Beier F, Ulmer TF, Tometten M. Sci Rep. 2023 Jan 6;13(1):304.
Eltrombopag Preserves the Clonogenic Potential of Hematopoietic Stem Cells During Treatment With Antithymocyte Globulin in Patients With Aplastic Anemia. Vieri M, Rolles B, Crocioni M, Schemionek-Reinders M, Isfort S, Panse J, Brümmendorf TH, Beier F. Hemasphere. 2023 Jun 7;7(6):e906.
Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. Tometten M, Kirschner M, Meyer R, Begemann M, Halfmeyer I, Vieri M, Kricheldorf K, Maurer A, Platzbecker U, Radsak M, Schafhausen P, Corbacioglu S, Höchsmann B, Matthias Wilk C, Hinze C, Chromik J, Heuser M, Kreuter M, Koschmieder S, Panse J, Isfort S, Kurth I, Brümmendorf TH, Beier F. Hemasphere. 2023 Apr 20;7(5):e874.
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study. Philippot Q, Kannengiesser C, Debray MP, Gauvain C, Ba I, Vieri M, Gondouin A, Naccache JM, Reynaud-Gaubert M, Uzunhan Y, Bondue B, Israël-Biet D, Dieudé P, Fourrage C, Lainey E, Manali E, Papiris S, Wemeau L, Hirschi S, Mal H, Nunes H, Schlemmer F, Blanchard E, Beier F, Cottin V, Crestani B, Borie R; OrphaLung Network. Respirology. 2022 Jan 3.
Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort. Phillips-Houlbracq M, Mal H, Cottin V, Gauvain C, Beier F, Sicre de Fontbrune F, Sidali S, Mornex JF, Hirschi S, Roux A, Weisenburger G, Roussel A, Wémeau-Stervinou L, Le Pavec J, Pison C, Marchand Adam S, Froidure A, Lazor R, Naccache JM, Jouneau S, Nunes H, Reynaud-Gaubert M, Le Borgne A, Boutboul D, Ba I, Boileau C, Crestani B, Kannengiesser C, Borie R; OrphaLung Network.Am J Transplant. 2021 Dec 1.
Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue. Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine M, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Wlodarski MW, Cooper MA, Nicholas SK, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Blood. 2021 Nov 12:blood.2021011980.
Diagnosis and Therapy of aplastic anemia - update 2021. Panse J. Dtsch Med Wochenschr. 2021 Apr;146(7):451-454.
Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria. Hillmen P, Szer J, Weitz I, Röth A, Höchsmann B, Panse J, Usuki K, Griffin M, Kiladjian JJ, de Castro C, Nishimori H, Tan L, Hamdani M, Deschatelets P, Francois C, Grossi F, Ajayi T, Risitano A, Peffault de la Tour R.
N Engl J Med. 2021 Mar 18;384(11):1028-1037.
Treatment of telomeropathies. (Review) Vieri M, Brümmendorf TH, Beier F. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282
Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry” Tometten M, Kirschner M, Isfort S, Berres ML, Brümmendorf TH, Beier F. Orphanet J Rare Dis. 2021 Sep 26;16(1):395.
Internet-based patient survey on the consequences of COVID-19 lockdown on treatment and medical follow-up of patients with aplastic anemia or paroxysmal nocturnal hemoglobinuria in Germany. Beier F, Kricheldorf K, Burmester P, Göbel U, Isfort S, Panse J, Brümmendorf TH. Eur J Haematol. 2021 May;106(5):740-742
Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita. Kirschner M, Vieri M, Kricheldorf K, Ferreira MSV, Wlodarski MW, Schwarz M, Balabanov S, Rolles B, Isfort S, Koschmieder S, Höchsmann B, Panse J, Brümmendorf TH, Beier F. Br J Haematol 2020 Aug 3. doi: 10.1111/bjh.16997.
PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation. Cypris O, Eipel M, Franzen J, Rösseler C, Tharmapalan V, Kuo CC, Vieri M, Nikolić M, Kirschner M, Brümmendorf TH, Zenke M, Lampert A, Beier F*, Wagner W*. (*equally contributed) Clin Epigenetics 2020 Aug 20;12(1):125.
Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita. Vieri M, Kirschner M, Tometten M, Abels A, Rolles B, Isfort S, Panse J, Brümmendorf TH, Beier F. Int J Mol Sci. 2020 Sep 29;21(19):E7196.
Revesz syndrome revisited. Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M.Orphanet J Rare Dis. 2020 Oct 23;15(1):299.
The complement C5 inhibitor crovalimab in paroxysmal nocturnal hemoglobinuria. Röth A, Nishimura JI, Nagy Z, Gaàl-Weisinger J, Panse J, Yoon SS, Egyed M, Ichikawa S, Ito Y, Kim JS, Ninomiya H, Schrezenmeier H, Sica S, Usuki K, Sicre de Fontbrune F, Soret J, Sostelly A, Higginson J, Dieckmann A, Gentile B, Anzures-Cabrera J, Shinomiya K, Jordan G, Biedzka-Sarek M, Klughammer B, Jahreis A, Bucher C, Peffault de Latour R.Blood. 2020 Mar 19;135(12):912-920. doi: 10.1182/blood.2019003399.
Late-onset and long-lasting autoimmune neutropenia: an analysis from the Italian Neutropenia Registry. Fioredda F, Rotulo GA, Farruggia P, Dagliano F, Pillon M, Trizzino A, Notarangelo L, Luti L, Lanza T, Terranova P, Lanciotti M, Ceccherini I, Grossi A, Porretti L, Verzegnassi F, Mastrodicasa E, Barone A, Russo G, Bonanomi S, Boscarol G, Finocchi A, Veltroni M, Ramenghi U, Onofrillo D, Martire B, Ghilardi R, Giordano P, Ladogana S, Marra N, Zanardi S, Beier F, Miano M, Dufour C.Blood Adv. 2020 Nov 24;4(22):5644-5649.
Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies. Ferreira MSV, Kirschner M, Halfmeyer I, Estrada N, Xicoy B, Isfort S, Vieri M, Zamora L, Abels A, Bouillon AS, Begemann M, Schemionek M, Maurer A, Koschmieder S, Wilop S, Panse J, Brümmendorf TH, Beier F. Ann N Y Acad Sci. 2019 Oct 24. doi: 10.1111/nyas.14248.
Design and development of a disease-specific quality of life tool for patients with aplastic anaemia and/or paroxysmal nocturnal haemoglobinuria (QLQ-AA/PNH)-a report on phase III. Niedeggen C, Singer S, Groth M, Petermann-Meyer A, Röth A, Schrezenmeier H, Höchsmann B, Brümmendorf TH, Panse J. Ann Hematol. 2019 Jul;98(7):1547-1559.
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Kirschner M, Maurer A, Wlodarski M, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F Leukemia 2018 Aug;32(8):1762-1767
DNA methylation in PRDM8 is indicative for dyskeratosis congenita. Weidner CI, Qiong L, Birkhofer C, Gerstenmaier U, Kaifie A, Kirschner M, Bruns H, Balabanov S, Trummer A, Stockklausner C, Höchsmann B, Schrezenmeier H, Wlodarski M, Panse J, Brümmendorf TH, Beier F*, Wagner W* (*equally contributed) Oncotarget , accepted 09.02.2016, in press.
Pan-)cytopenia as first manifestation of kryptic telomeropathies in adults. Schmitt K, Beier F, Panse J, Brümmendorf TH. Dtsch Med Wochenschr . 2016 Oct;141(21):1578-1580. Review
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S.Blood, 2015 Jan 29;125(5):753-61
Telomere shortening in enterocytes of patients with uncontrolled acute intestinal graft-versus-host disease. Hummel S, Ventura Ferreira MS, Heudobler D, Huber E, Fahrenkamp D, Gremse F, Schmid K, Müller-Newen G, Ziegler P, Jost E, Blasco MA, Brümmendorf TH, Holler E, Beier F. Blood, 2015 Nov 26;126(22):2518-21
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition. Stockklausner C, Raffel S, Klermund J, Bandapalli OR, Beier F, Brümmendorf TH, Bürger F, Sauer SW, Hoffmann GF, Lorenz H, Tagliaferri L, Nowak D, Hofmann WK, Buergermeister R, Kerber C, Rausch T, Korbel JO, Luke B, Trumpp A, Kulozik AE. Aging (Albany NY), 2015 Nov;7(11):911-27
Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8/S100A9. Schneider RK, Schenone M, Ventura Ferreira M, Kraman R, Joyce CE, Hartigan C, Beier F, Brümmendorf TH, Germing U, Platzbecker U, Büsche G, Knüchel R, Chen MC, Waters CS, Chen E, Chu LP, Novina CD, Lindsley RC, Carr SA, Ebert BL. Nature Medicine, accepted 19.12.2015, in press.
Chronic replicative stress induced by CCl4 in TRF1 knockout mice recapitulates the origin of large liver cell changes. Beier F, Martinez P, Blasco MA.J Hepatol . 2015 Aug;63(2):446-55
Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres. Bär C, Huber N, Beier F, Blasco MA. Haematologica . 2015 Oct;100(10):1267-74
Reconstructing the in vivo dynamics of hematopoietic stem cells from telomere length distributions” Werner B*, Beier F*(*equally contributed), Hummel S, Balabanov S, Lassay L, Orlikowsky T, Dingli D, Brümmendorf TH, Traulsen A. Elife, 2015 Oct 15;4.
Genetic characterization of acquired aplastic anemia by targeted sequencing. Heuser M, Schlarmann C, Dobbernack V, Panagiota V, Wiehlmann L, Walter C, Beier F, Ziegler P, Yun H, Kade S, Kirchner A, Huang L, Koenecke C, Eder M, Brümmendorf TH, Dugas M, Ganser A, Thol F. Haematologica 2014 Sep;99(9):e165-7.
Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation. Ziegler P, Schrezenmeier H, Akkad J, Brassat U, Vankann L, Panse J, Wilop S, Balabanov S, Schwarz K, Martens UM, Brümmendorf TH. Ann Hematol. 2012 Jul;91(7):1115-20
