Academic literature on the topic 'MonoMac and DCML syndrome'
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Journal articles on the topic "MonoMac and DCML syndrome"
Kazenwadel, Jan, Genevieve A. Secker, Yajuan J. Liu, Jill A. Rosenfeld, Robert S. Wildin, Jennifer Cuellar-Rodriguez, Amy P. Hsu, et al. "Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature." Blood 119, no. 5 (February 2, 2012): 1283–91. http://dx.doi.org/10.1182/blood-2011-08-374363.
Full textWang, Weixin, Meghan Corrigan-Cummins, Donald C. Vinh, Amy P. Hsu, Dennis D. Hickstein, Steven M. Holland, and Katherine R. Calvo. "MCL-1 and Mir-181c in GATA2 Mutation Associated Monomac and Familial Myelodysplastic Syndrome." Blood 120, no. 21 (November 16, 2012): 3807. http://dx.doi.org/10.1182/blood.v120.21.3807.3807.
Full textHsu, Amy, M. Monica Gramatges, Christopher Williams, Brian Yang Merritt, M. Tarek Elghetany, Steven M. Holland, and Alison Bertuch. "GATA2 Mutations In Nonsyndromic Pediatric Myelodysplastic Syndrome." Blood 122, no. 21 (November 15, 2013): 2778. http://dx.doi.org/10.1182/blood.v122.21.2778.2778.
Full textShiba, Norio, Kentarou Ohki, Myoung-ja Park, Souichi Adachi, Masao Kobayashi, Akitoshi Kinoshita, Manabu Sotomatsu, et al. "GATA2 Mutations in Pediatric Acute Myeloid Leukemia: A Study of the Japanese Childhood AML Cooperative Study Group." Blood 120, no. 21 (November 16, 2012): 2536. http://dx.doi.org/10.1182/blood.v120.21.2536.2536.
Full textTownsley, Danielle M., Amy Hsu, Bogdan Dumitriu, Steven M. Holland, and Neal S. Young. "Regulatory Mutations in GATA2 Associated with Aplastic Anemia." Blood 120, no. 21 (November 16, 2012): 3488. http://dx.doi.org/10.1182/blood.v120.21.3488.3488.
Full textHickstein, Dennis D., Nirali N. Shah, Alexandra F. Freeman, Christa Zerbe, Steven M. Holland, and Mark Parta. "Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Deficiency." Blood 126, no. 23 (December 3, 2015): 1214. http://dx.doi.org/10.1182/blood.v126.23.1214.1214.
Full textHickstein, Dennis D., Nirali N. Shah, Alexandra Freeman, Christa Zerbe, and Steven M. Holland. "Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Deficiency." Blood 128, no. 22 (December 2, 2016): 1500. http://dx.doi.org/10.1182/blood.v128.22.1500.1500.
Full textZerbe, Christa S., Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Steven M. Holland, and Dennis D. Hickstein. "Successful Haploidentical Hematopoietic Stem Cell Transplant for GATA2 Deficiency." Blood 124, no. 21 (December 6, 2014): 5838. http://dx.doi.org/10.1182/blood.v124.21.5838.5838.
Full textWest, Robert R., Amy Hsu, Katherine R. Calvo, Jennifer Cuellar-Rodriguez, Steven M. Holland, and Dennis D. Hickstein. "ASXL1 mutations in GATA2-Deficiency Correlate with Leukemic Transformation." Blood 120, no. 21 (November 16, 2012): 405. http://dx.doi.org/10.1182/blood.v120.21.405.405.
Full textAlter, Blanche P., Neelam Giri, Katherine R. Calvo, Irina Maric, Diane C. Arthur, Dennis D. Hickstein, Caroline A. Hastings, Michelle A. Lee, Amy Hsu, and Steven M. Holland. "Clinically Silent Carriers in Families with Myelodysplastic Syndrome Due to GATA2 Mutations." Blood 120, no. 21 (November 16, 2012): 1264. http://dx.doi.org/10.1182/blood.v120.21.1264.1264.
Full textDissertations / Theses on the topic "MonoMac and DCML syndrome"
Chong, Chan Eng. "Genetics and functional characterization of GATA2: a novel cancer gene in familial leukaemia." Thesis, 2013. http://hdl.handle.net/2440/85983.
Full textThesis (Ph.D.) -- University of Adelaide, School of Medicine, 2013
Pécheux, Lucie. "Expression des histones déméthylases dans les cellules hématopoïétiques humaines et les leucémies aiguës." Thèse, 2013. http://hdl.handle.net/1866/11550.
Full textThe importance of chromatin modifiers in regulation of hematopoiesis and hematologic malignancies is illustrated by the Mixed-Lineage Leukemia (MLL) histone methyltransferase, which is essential to maintain hematopoietic stem cells (HSC) and whose corresponding gene, MLL, is rearranged in over 70% of infant leukemia. The recently discovered histone demethylases (HDM) are also involved in HSC fate and in hematologic malignancies. The purpose of this project is to study the expression of HDM in normal and leukemic hematopoietic cells to identify potential regulators of their fate. We performed a comprehensive gene expression profile of HDM by qRTPCR and transcriptome sequencing (RNA-seq) in cord blood cells (CD34+ cells enriched in HSC and differentiated cells) and in acute myeloid leukemia (AML) cells with MLL rearrangement. Both techniques revealed differential expression of HDM between these cell populations. KDM5B and KDM1A are overexpressed in CD34+ cells compared to differentiated cells. Moreover, KDM4A and PADI2 are overexpressed in leukemic cells compared to normal cells. Functional studies will determine whether modulation of these candidates can be used in HSC expansion strategies or as anti-leukemic drug target. We have also developed and validated a new diagnostic test to detect mutations of GATA2, a gene encoding a key transcription factor involved in hematopoiesis and in AML. This work highlights the importance of nuclear factors in the regulation of normal and leukemic hematopoiesis.
Book chapters on the topic "MonoMac and DCML syndrome"
Gonzalez-Lara, Maria Fernanda, and Jennifer Cuellar-Rodriguez. "Monocytopenia and Mycobacterial Infection Syndrome (MONOMAC)." In Genetic Syndromes, 1–5. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-66816-1_75-1.
Full textGonzalez-Lara, Maria Fernanda, and Jennifer Cuellar-Rodriguez. "Monocytopenia and Mycobacterial Infection Syndrome (MONOMAC)." In Genetic Syndromes, 1–5. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-66816-1_75-2.
Full textConference papers on the topic "MonoMac and DCML syndrome"
Jeffries, Jessica, and Timothy J. Harkin. "Isolated Intrathoracic Lymphadenitis Due To Mycobacterium Kansasii And The "MonoMAC" Syndrome." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a5461.
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