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Items: 1 to 20 of 50

1.
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
Kenji Ihara, Eiichi Ishii, Mariko Eguchi, Hidetoshi Takada, Aiko Suminoe, Robert A. Good, Toshiro Hara
Proc Natl Acad Sci U S A. 1999 Mar 16; 96(6): 3132–3136. doi: 10.1073/pnas.96.6.3132
PMCID:
PMC15907
AbstractArticlePDF–269K
2.
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
Alessandro Pecci, Iman Ragab, Valeria Bozzi, Daniela De Rocco, Serena Barozzi, Tania Giangregorio, Heba Ali, Federica Melazzini, Mohamed Sallam, Caterina Alfano, Annalisa Pastore, Carlo L Balduini, Anna Savoia
EMBO Mol Med. 2018 Jan; 10(1): 63–75. Published online 2017 Nov 30. doi: 10.15252/emmm.201708168
PMCID:
PMC5760853
AbstractArticlePDF–750K
3.
Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia
Cédric Cleyrat, Romain Girard, Eun H. Choi, Éric Jeziorski, Thierry Lavabre-Bertrand, Sylvie Hermouet, Serge Carillo, Bridget S. Wilson
Blood Adv. 2017 Sep 26; 1(21): 1815–1826. Published online 2017 Sep 22. doi: 10.1182/bloodadvances.2016002915
PMCID:
PMC5728092
AbstractArticlePDF–2.5M
4.
Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene
İkbal Ok Bozkaya, Neşe Yaralı, Pamir Işık, Rukiye Ünsal Saç, Betül Tavil, Bahattin Tunç
Turk J Haematol. 2015 Jun; 32(2): 172–174. Published online 2015 May 8. doi: 10.4274/tjh.2013.0191
PMCID:
PMC4451487
AbstractArticlePDF–178K
5.
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
Shinji Hirata, Naoya Takayama, Ryoko Jono-Ohnishi, Hiroshi Endo, Sou Nakamura, Takeaki Dohda, Masanori Nishi, Yuhei Hamazaki, Ei-ichi Ishii, Shin Kaneko, Makoto Otsu, Hiromitsu Nakauchi, Shinji Kunishima, Koji Eto
J Clin Invest. 2013 Sep 3; 123(9): 3802–3814. Published online 2013 Aug 1. doi: 10.1172/JCI64721
PMCID:
PMC3754238
AbstractArticlePDF–2.2M
6.
Congenital Amegakaryocytic Thrombocytopenia: A Brief Review of the Literature
Fatma S. Al-Qahtani
Clin Med Insights Pathol. 2010; 3: 25–30. Published online 2010 Jun 4. doi: 10.4137/cpath.s4972
PMCID:
PMC2999995
AbstractArticlePDF–437K
7.
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: Proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents
Norma E. Fox, Jihyang Lim, Rose Chen, Amy E. Geddis
Exp Hematol. Author manuscript; available in PMC 2011 May 1.
Published in final edited form as: Exp Hematol. 2010 May; 38(5): 384–391. Published online 2010 Feb 24. doi: 10.1016/j.exphem.2010.02.007
PMCID:
PMC2862996
AbstractArticlePDF–1.2M
8.
Congenital Amegakaryocytic Thombocytopenia and Thrombocytopenia with Absent Radii
Amy E. Geddis
Hematol Oncol Clin North Am. Author manuscript; available in PMC 2010 Apr 1.
Published in final edited form as: Hematol Oncol Clin North Am. 2009 Apr; 23(2): 321–331. doi: 10.1016/j.hoc.2009.01.012
PMCID:
PMC2757092
AbstractArticlePDF–506K
9.
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients
Manuela Germeshausen, Matthias Ballmaier
Haematologica. 2021 Sep 1; 106(9): 2439–2448. Published online 2020 Jul 23. doi: 10.3324/haematol.2020.257972
PMCID:
PMC8409039
AbstractArticlePDF–2.8M
10.
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature
Norma E. Fox, Rose Chen, Ian Hitchcock, Jennifer Keates-Baleeiro, Haydar Frangoul, Amy E. Geddis
Exp Hematol. Author manuscript; available in PMC 2010 Apr 1.
Published in final edited form as: Exp Hematol. 2009 Apr; 37(4): 495–503. doi: 10.1016/j.exphem.2009.01.001
PMCID:
PMC2694734
AbstractArticlePDF–1.5M
11.
Outcomes in Hematopoietic Stem Cell Transplantation for Congenital Amegakaryocytic Thrombocytopenia
Maria Cancio, Kyle Hebert, Soyoung Kim, Mahmoud Aljurf, Timothy Olson, Eric Anderson, Lauri Burroughs, Anant Vatsayan, Kasiani Myers, Hasan Hashem, Rabi Hanna, Biljana Horn, Tim Prestidge, Jaap-Jan Boelens, Farid Boulad, Mary Eapen
Transplant Cell Ther. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Transplant Cell Ther. 2022 Feb; 28(2): 101.e1–101.e6. Published online 2021 Oct 17. doi: 10.1016/j.jtct.2021.10.009
PMCID:
PMC8816844
AbstractArticlePDF–130K
12.
Non-myeloablative conditioning is sufficient to achieve complete donor myeloid chimerism following matched sibling donor bone marrow transplant for myeloproliferative leukemia virus oncogene (MPL) mutation-driven congenital amegakaryocytic thrombocytopenia: Case report
Joseph Hai Oved, Yash B. Shah, Kimberly Venella, Michele E. Paessler, Timothy S. Olson
Front Pediatr. 2022; 10: 903872. Published online 2022 Jul 28. doi: 10.3389/fped.2022.903872
PMCID:
PMC9366100
AbstractArticlePDF–607K
13.
Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report
Sisi Wang, Xue Yang, Yuan Ai, Yiping Zhu
Klin Padiatr. 2022 Nov; 234(6): 388–390. Published online 2022 Nov 15. doi: 10.1055/a-1933-2583
PMCID:
PMC9666055
AbstractArticlePDF–177K
14.
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia
Valeria Capaci, Etai Adam, Ifat Bar-Joseph, Michela Faleschini, Alessandro Pecci, Anna Savoia
Haematologica. 2023 May 1; 108(5): 1385–1393. Published online 2022 Oct 13. doi: 10.3324/haematol.2022.281392
PMCID:
PMC10153527
AbstractArticlePDF–1.3M
15.
Predicting delinquent behavior in young adults with a childhood diagnosis of ADHD: results from the Cologne Adaptive Multimodal Treatment (CAMT) Study
Dieter Breuer, Elena von Wirth, Janet Mandler, Stephanie Schürmann, Manfred Döpfner
Eur Child Adolesc Psychiatry. 2022; 31(4): 553–564. Published online 2020 Dec 4. doi: 10.1007/s00787-020-01698-y
PMCID:
PMC9035006
AbstractArticlePDF–689K
16.
Mutational inhibition of c-Myb or p300 ameliorates treatment-induced thrombocytopenia
Douglas J. Hilton, Benjamin T. Kile, Warren S. Alexander
Blood. 2009 May 28; 113(22): 5599–5604. Prepublished online 2009 Feb 27. doi: 10.1182/blood-2008-12-195255
PMCID:
PMC2689056
AbstractArticle
17.
Gene Therapy of Mpl Deficiency: Challenging Balance Between Leukemia and Pancytopenia
Daniel C Wicke, Johann Meyer, Guntram Buesche, Dirk Heckl, Hans Kreipe, Zhixiong Li, Karl H Welte, Matthias Ballmaier, Christopher Baum, Ute Modlich
Mol Ther. 2010 Feb; 18(2): 343–352. Published online 2009 Oct 20. doi: 10.1038/mt.2009.233
Correction in:
Mol Ther. 2010 Feb; 18(2): 448.
PMCID:
PMC2839299
AbstractArticlePDF–680K
18.
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter
Haematologica. 2010 Aug; 95(8): 1300–1307. Published online 2010 Apr 30. doi: 10.3324/haematol.2009.018119
PMCID:
PMC2913078
AbstractArticlePDF–619K
19.
Incomplete restoration of Mpl expression in the mpl−/− mouse produces partial correction of the stem cell–repopulating defect and paradoxical thrombocytosis
Brian J. Lannutti, Angela Epp, Jacqueline Roy, Junmei Chen, Neil C. Josephson
Blood. 2009 Feb 19; 113(8): 1778–1785. Prepublished online 2008 Sep 16. doi: 10.1182/blood-2007-11-124859
PMCID:
PMC2647669
AbstractArticle
20.
Genetic Predisposition Syndromes: When Should They Be Considered In The Work-up of MDS?
Daria V. Babushok, Monica Bessler
Best Pract Res Clin Haematol. Author manuscript; available in PMC 2016 Mar 1.
Published in final edited form as: Best Pract Res Clin Haematol. 2015 Mar; 28(1): 55–68. Published online 2014 Nov 12. doi: 10.1016/j.beha.2014.11.004
PMCID:
PMC4323616
AbstractArticlePDF–828K

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