Publikationen Zentrum für angeborene Blutzellerkrankungen

Al-Samkari H, Galactéros F, Glenthøj A, Rothman JA, Andres O, Grace RF, Morado-Arias M, Layton DM, Onodera K, Verhovsek M, Barcellini W, Chonat S, Judge MP, Zagadailov E, Xu R, Hawkins P, Beynon V, Gheuens S, van Beers EJ, ACTIVATE Investigators
(2022)
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
The New England Journal of Medicine (NEJM) 2022 Apr 14; 386(15): 1432-1442
Zur Publikation

Becker IC, Nagy Z, Manukjan G, Haffner-Luntzer M, Englert M, Heib T, Vögtle T, Gross C, Bharti R, Dietrich S, Mott K, Heck J, Stegmaier S, Baranowsky A, Schinke T, Schlegel N, Heckel T, Stegner D, Pleines I, Ignatius A, Schulze H, Nieswandt B (2022)
G6b-B regulates an essential step in megakaryocyte maturation.
Blood Advances 2022 May 24; 6(10): 3155-3161
Zur Publikation

Dutzmann CM, Spix C, Popp I, Kaiser M, Erdmann F, Erlacher M, Dörk T, Schindler D, Kalb R, Kratz CP (2022)
Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany.
Journal of Clinical Oncology 2022 Jan 1; 40(1): 32-39
Zur Publikation

Behrens YL, Göhring G, Bawadi R, Cöktü S, Reimer C, Hoffmann B, Sänger B, Käfer S, Thol F, Erlacher M, Niemeyer CM, Baumann I, Kalb R, Schindler D, Kratz CP (2021)
A novel classification of hematologic conditions in patients with Fanconi anemia.
Haematologica 2021 Nov 1; 106(11): 3000-3003
Zur Publikation

Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengeløv H, Yesilipek A, Formankova R, Bader P, Díaz Pérez MÁ, Bertrand Y, Niemeyer C, Diallo S, Ansari M, Bykova TA, Faraci M, Bonanomi S, Gozdzik J, Satti TM, Bodova I, Wölfl M, Rocha VG, Mellgren K, Rascon J, Holter W, Lange A, Meisel R, Beguin Y, Mozo Y, Kriván G, Sirvent A, Bruno B, Dalle JH, Onofrillo D, Giardino S, Risitano AM, de Latour RP, Dufour C (2021)
Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT).
Transplantation and Cellular Therapy 2021 Mar; 27(3): 274.e1-274.e5
Zur Publikation

Al-Samkari H, Grace R, Glenthoej A, Andres O, Barcellini W, Galactéros F, Kuo K, Layton M, Morado M, Viprakasit V, Dong Y, Tai F, Hawkins P, Gheuens S, Bowden C, Porter J, van Beers E (2020)
Early-Onset Osteopenia and Osteoporosis in Patients with Pyruvate Kinase Deficiency.
Blood 2020; 136 (Supplement 1): 30–32
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Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF (2020)
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
American Journal of Hematology 2020 May; 95(5): 472-482
Zur Publikation

Manukjan G, Wiegering VA, Reindl T, Strauß G, Klopocki E, Schulze H, Andres O (2020)
Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.
Pediatric Blood & Cancer 2020 Feb; 67(2): e28078
Zur Publikation

Schindler D, Kalb R (2020)
Disease and mutation: correlations coming to fruition.
Blood 2020 Apr 30; 135(18): 1514-1515
Zur Publikation

Streif W, Knöfler R, Althaus K, Ballmaier M, Bergmann F, Beutel K, Cario H, Dame C, Eberl W, Gebetsberger J, Gebhart J, Halimeh S, Holzhauer S, Jurk K, Kehrel B, Krause M, Krause M, Manukjan G, Meyer O, Olivieri M, Schmugge M, Schulze H, Siegemund A, Stockklausner C, Strauss G, Wiegering V, Zieger B (2020)
Therapie angeborener thrombozytärer Erkrankungen. Interdisziplinäre S2k-Leitlinie der Ständigen Kommission Pädiatrie der Gesellschaft für Thrombose- und Hämostaseforschung.
Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften (AWMF) online 2020 Apr; Registrierungsnummer 086-004
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Andres O, Loewecke F, Morbach H, Kraus S, Einsele H, Eber S, Speer CP (2019)
Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
British Journal of Haematology 2019; 187: 386-395
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Geue S, Aurbach K, Manke MC, Manukjan G, Münzer P, Stegner D, Brähler C, Walker- Allgaier B, Märklin M, Borst CE, Quintanilla-Fend L, Rath D, Geisler T, Salih HR, Seizer P, Lang F, Nieswandt B, Gawaz M, Schulze H, Pleines I, Borst O (2019)
Pivotal role of PDK1 in megakaryocyte cytoskeletal dynamics and polarization during platelet biogenesis.
Blood 2019 Nov 21; 134: 847-1858
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Kiran Gotru S, van Geffen JP, Nagy M, Mammadova-Bach E, Eilenberger J, Volz J, Manukjan G, Schulze H, Wagner L, Eber S, Schambeck C, Deppermann C, Brouns S, Nurden P, Greinacher A, Sachs U, Nieswandt B, Hermanns HM, Heemskerk JWM, Braun A (2019)
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ- storage pool diseases.
Scientific Reports 2019 Jun; 9(1): 8333
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Manukjan G, Eilenberger J, Andres O, Schambeck C, Eber S, Schulze H (2019)
Functional Classification of Paediatric Patients with Non-syndromic Delta-Storage Pool Deficiency.
Hamostaseologie 2019; 39(4): 383-391
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Schuhmann MK, Kraft P, Bieber M, Kollikowski AM, Schulze H, Nieswandt B, Pham M, Stegner D, Stoll G (2019)
Targeting Platelet GPVI Plus rt-PA Administration but Not α2β1- Mediated Collagen Binding Protects against Ischemic Brain Damage in Mice.
International Journal of Molecular Sciences 2019 Apr; 20(8): 2019
Zur Publikation

Semeniak D, Faber K, Öftering P, Manukjan G, Schulze H (2019)
Impact of Itga2-Gp6-double collagen receptor deficient mice for bone marrow megakaryocytes and platelets.
PLoS One 2019 Aug 9; 14(8): e0216839
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Vögtle T, Sharma S, Mori J, Nagy Z, Semeniak D, Scandola C, Geer MJ, Smith CW, Lane J, Pollack S, Lassila R, Jouppila A, Barr AJ, Ogg DJ, Howard TD, McMiken HJ, Warwicker J, Geh C, Rowlinson R, Abbott WM, Eckly A, Schulze H, Wright GJ, Mazharian A, Fütterer K, Rajesh S, Douglas MR, Senis YA (2019)
Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B.
eLife 2019 Aug 22;8:e46840
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