MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development

[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.