Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia
Tài liệu tham khảo
Young, 1997, The pathophysiology of acquired aplastic anemia, N Engl J Med, 336, 1365, 10.1056/NEJM199705083361906
Socie, 1993, Malignant tumors occurring after treatment of aplastic anemia. European bone marrow Transplantation-severe aplastic anaemia working Party, N Engl J Med, 329, 1152115, 10.1056/NEJM199310143291603
Young, 2002, The relationship of aplastic anemia and PNH, Int J Hematol, 76, 168, 10.1007/BF03165111
Dunn, 1999, Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes, Ann Intern Med, 131, 401, 10.7326/0003-4819-131-6-199909210-00002
Katagiri, 2011, Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia, Blood, 118, 6601, 10.1182/blood-2011-07-365189
Babushok, 2014, Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes, Br J Haematol, 164, 73, 10.1111/bjh.12603
Afable, 2011, SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes, Blood, 117, 6876, 10.1182/blood-2010-11-314393
Kulasekararaj, 2014, Somatic mutations identify a sub-group of aplastic anemia patients that progress to myelodysplastic syndrome, Blood, 124, 2698, 10.1182/blood-2014-05-574889
Lane, 2013, Low frequency clonal mutations recoverable by deep sequencing in patients with aplastic anemia, Leukemia, 27, 968, 10.1038/leu.2013.30
Heuser, 2014, Genetic characterization of acquired aplastic anemia by targeted sequencing, Haematologica, 99, e165, 10.3324/haematol.2013.101642
Dumitriu, 2015, Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia, Blood, 125, 706, 10.1182/blood-2014-10-607572
1987, Incidence of aplastic anemia: the relevance of diagnostic criteria. By the International Agranulocytosis and Aplastic Anemia Study, Blood, 70, 1718, 10.1182/blood.V70.6.1718.1718
Swerdlow, 2008
1988, American academy of pediatrics Council on child and adolescent health: age limits of pediatrics, Pediatrics, 81, 736, 10.1542/peds.81.5.736
Koboldt, 2012, VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing, Genome Res, 22, 568, 10.1101/gr.129684.111
Thorvaldsdottir, 2013, Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration, Brief Bioinformatics, 14, 178, 10.1093/bib/bbs017
Mardis, 2009, Recurring mutations found by sequencing an acute myeloid leukemia genome, N Engl J Med, 361, 1058, 10.1056/NEJMoa0903840
Lind, 2010, Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing, Hum Immunol, 71, 1033, 10.1016/j.humimm.2010.06.016
Du, 2007, Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome, Aging Cell, 6, 689, 10.1111/j.1474-9726.2007.00324.x
Luo, 2001, Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis, Mol Diagn, 6, 169
Wang, 2013, Web-based GEne SeT AnaLysis toolkit (WebGestalt): update 2013, Nucleic Acids Res, 41, W77, 10.1093/nar/gkt439
Benjamini, 1995, Controlling the false discovery rate: a practical and powerful approach to multiple testing, J R Stat Soc, 57, 289
Shen, 2014, Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria, J Clin Invest, 124, 4529, 10.1172/JCI74747
Rajala, 2013, Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia, Blood, 121, 4541, 10.1182/blood-2012-12-474577
Patton, 1990, Activation of type II calcium/calmodulin-dependent protein kinase by Ca2+/calmodulin is inhibited by autophosphorylation of threonine within the calmodulin-binding domain, J Biol Chem, 265, 11204, 10.1016/S0021-9258(19)38577-1
Hanson, 1992, Inhibitory autophosphorylation of multifunctional Ca2+/calmodulin-dependent protein kinase analyzed by site-directed mutagenesis, J Biol Chem, 267, 17216, 10.1016/S0021-9258(18)41915-1
Heuser, 2013, 2470
Mikhailova, 1996, Cytogenetic abnormalities in patients with severe aplastic anemia, Haematologica, 81, 418
Rioux, 2009, Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases, Proc Natl Acad Sci U S A, 106, 18680, 10.1073/pnas.0909307106
Osumi, 2013, Nonsense mutation in HLA-B*40:02 in a case with acquired aplastic anaemia: a possible origin of clonal escape from autoimmune insult, Br J Haematol, 162, 706, 10.1111/bjh.12395
Bessler, 1994, Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria, Lancet, 343, 951, 10.1016/S0140-6736(94)90068-X
Betensky M, Babushok DV, Roth JJ, et al. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. American Society of Hematology Annual Meeting. San Francisco, CA; December 6–9, Blood 124, 2014, 4387.
Si, 2008, Activated Ca2+/calmodulin-dependent protein kinase IIgamma is a critical regulator of myeloid leukemia cell proliferation, Cancer Res, 68, 3733, 10.1158/0008-5472.CAN-07-2509
Si, 2007, CaMKII regulates retinoic acid receptor transcriptional activity and the differentiation of myeloid leukemia cells, J Clin Invest, 117, 1412, 10.1172/JCI30779
Kubokawa, 2011, Interaction between calcineurin and Ca/calmodulin kinase-II in modulating cellular functions, Enzyme Res, 2011, 587359, 10.4061/2011/587359
Welch, 2012, The origin and evolution of mutations in acute myeloid leukemia, Cell, 150, 264, 10.1016/j.cell.2012.06.023
Busque, 2012, Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis, Nat Genet, 44, 1179, 10.1038/ng.2413
Busque, 1996, Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age, Blood, 88, 59, 10.1182/blood.V88.1.59.59
Mossner, 2013, Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay, J Med Genet, 50, 108, 10.1136/jmedgenet-2012-101093
Holstege, 2014, Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis, Genome Res, 24, 733, 10.1101/gr.162131.113
Xie, 2014, Age-related mutations associated with clonal hematopoietic expansion and malignancies, Nat Med, 20, 1472, 10.1038/nm.3733
Genovese, 2014, Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence, N Engl J Med, 371, 2477, 10.1056/NEJMoa1409405
Jaiswal, 2014, Age-related clonal hematopoiesis associated with adverse outcomes, N Engl J Med, 371, 2488, 10.1056/NEJMoa1408617