MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
暂无分享,去创建一个
[1] E. Kinning,et al. Fetal hydrops caused by a novel pathogenic MECOM variant , 2023, Prenatal diagnosis.
[2] David R. Liu,et al. Massively parallel base editing to map variant effects in human hematopoiesis , 2023, Cell.
[3] K. Igarashi,et al. Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice , 2023, Blood advances.
[4] A. Bertuch,et al. Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM‐associated syndromes , 2023, American journal of medical genetics. Part A.
[5] J. Takita,et al. Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome , 2022, International Journal of Hematology.
[6] P. A. Futreal,et al. A cellular hierarchy framework for understanding heterogeneity and predicting drug response in acute myeloid leukemia , 2022, Nature Medicine.
[7] A. Adekile,et al. A novel MECOM variant associated with congenital amegakaryocytic thrombocytopenia and radioulnar synostosis , 2022, Pediatric blood & cancer.
[8] C. Ponting,et al. Mapping the developing human cardiac endothelium at single-cell resolution identifies MECOM as a regulator of arteriovenous gene expression , 2022, Cardiovascular research.
[9] Yongjia Yang,et al. MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants. , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.
[10] K. Nakayama,et al. Phenotypic heterogeneity in individuals with MECOM variants in 2 families , 2022, Blood advances.
[11] Shijie C. Zheng,et al. Limb development genes underlie variation in human fingerprint patterns , 2022, Cell.
[12] A. Regev,et al. A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia , 2021, bioRxiv.
[13] N. Zuo,et al. MECOM promotes supporting cell proliferation and differentiation in cochlea , 2021, Journal of otology.
[14] Ivan K. Chinn,et al. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients , 2021, The Journal of experimental medicine.
[15] Beiyuan Liang,et al. EVI1 in Leukemia and Solid Tumors , 2020, Cancers.
[16] C. Laverdière,et al. New MECOM variant in a child with severe neonatal cytopenias spontaneously resolving , 2020, Pediatric blood & cancer.
[17] J. Casanova,et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee , 2022, Journal of Clinical Immunology.
[18] Guoji Guo,et al. Live-animal imaging of native hematopoietic stem and progenitor cells , 2019, Nature.
[19] D. Munirathnam,et al. A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT‐2) in an infant , 2018, Pediatric blood & cancer.
[20] T. Vulliamy,et al. Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease , 2018, Haematologica.
[21] M. Kurokawa,et al. Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality , 2018, Pediatric blood & cancer.
[22] E. Kjeldsen,et al. Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2. , 2018, Gene.
[23] F. Groenendaal,et al. Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM , 2018, Haematologica.
[24] M. Ballmaier,et al. MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. , 2018, Blood advances.
[25] J. Soulier,et al. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. , 2018, Blood.
[26] D. Steinemann,et al. MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies , 2017, Haematologica.
[27] M. Tekin,et al. A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. , 2017, Clinical dysmorphology.
[28] Aaron R Cooper,et al. Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients. , 2017, Blood.
[29] X. Troussard,et al. Persistent polyclonal binucleated B-cell lymphocytosis and MECOM gene amplification , 2016, BMC Research Notes.
[30] S. Gröschel,et al. Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31 , 2016, American journal of medical genetics. Part A.
[31] K. Nakayama,et al. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. , 2015, American Journal of Human Genetics.
[32] A. Perkins,et al. The role of EVI1 in myeloid malignancies. , 2014, Blood cells, molecules & diseases.
[33] J. D. Engel,et al. A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating EVI1 expression. , 2014, Cancer cell.
[34] Britta A. M. Bouwman,et al. A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia , 2014, Cell.
[35] C. Ruivenkamp,et al. Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia , 2012, Journal of Medical Genetics.
[36] S. Armstrong,et al. EVI1 is critical for the pathogenesis of a subset of MLL-AF9-rearranged AMLs. , 2012, Blood.
[37] T. Kadowaki,et al. Evi1 is essential for hematopoietic stem cell self-renewal, and its expression marks hematopoietic cells with long-term multilineage repopulating activity , 2011, The Journal of experimental medicine.
[38] F. Camargo,et al. PR-domain-containing Mds1-Evi1 is critical for long-term hematopoietic stem cell function. , 2011, Blood.
[39] R. Pieters,et al. EVI1 overexpression in distinct subtypes of pediatric acute myeloid leukemia , 2010, Leukemia.
[40] Hans Martin,et al. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease , 2010, Nature Medicine.
[41] Ryan M. O’Connell,et al. Engineering human hematopoietic stem/progenitor cells to produce a broadly neutralizing anti-HIV antibody after in vitro maturation to human B lymphocytes. , 2009, Blood.
[42] J. Tisdale,et al. Long-Term Vector Integration Site Analysis Following Retroviral Mediated Gene Transfer to Hematopoietic Stem Cells for the Treatment of HIV Infection , 2008, PloS one.
[43] S. Ogawa,et al. Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells. , 2008, Cell stem cell.
[44] Yang Du,et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1 , 2006, Nature Medicine.
[45] A. Iwama,et al. Oncogenic transcription factor Evi1 regulates hematopoietic stem cell proliferation through GATA‐2 expression , 2005, The EMBO journal.
[46] J. Ihle,et al. The Evi-1 zinc finger myeloid transforming gene is normally expressed in the kidney and in developing oocytes. , 1990, Oncogene.
[47] N. Duman,et al. A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant. , 2022, The Turkish journal of pediatrics.
[48] C. Tirado,et al. MECOM: A Very Interesting Gene Involved also in Lymphoid Malignancies. , 2019, Journal of the Association of Genetic Technologists.
[49] M. Konantz,et al. EVI-1 modulates leukemogenic potential and apoptosis sensitivity in human acute lymphoblastic leukemia , 2013, Leukemia.
[50] Long T. Nguyen,et al. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation , 2000, Nature Genetics.