Research Topics
Genomes and Genes | Rodrigo T CaladoSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Telomere maintenance and human bone marrow failureRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Blood 111:4446-55. 2008....- Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemiaRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 106:1187-92. 2009..We propose that short and dysfunctional telomeres limit normal stem cell proliferation and predispose for leukemia by selection of stem cells with defective DNA damage responses that are prone to genome instability... - Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cellsRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
Blood 114:2236-43. 2009..These findings have potential implications for the choice of current androgenic compounds and the development of future agents for clinical use... - A spectrum of severe familial liver disorders associate with telomerase mutationsRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS ONE 4:e7926. 2009..Here, we sought to determine the spectrum of clinical manifestations associated with telomerase loss-of-function mutations... 
Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemiaR T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Leukemia 26:700-7. 2012..These results provide the first clinical direct evidence in humans that short telomeres in hematopoietic cells are dysfunctional, mediate chromosomal instability and predispose to malignant transformation in a human disease...- Mutations in the SBDS gene in acquired aplastic anemiaRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
Blood 110:1141-6. 2007..We propose that heterozygosity for the 258 + 2 T>C SBDS mutation predisposes to AA by accelerating telomere shortening of leukocytes via a telomerase-independent mechanism... - Constitutional telomerase mutations are genetic risk factors for cirrhosisRodrigo T Calado
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Hepatology 53:1600-7. 2011..0004). CONCLUSION: Most TERT gene variants reduced telomerase enzymatic activity in vitro. Loss-of-function telomerase gene variants associated with short telomeres are risk factors for sporadic cirrhosis... 
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemiaHiroki Yamaguchi
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
N Engl J Med 352:1413-24. 2005..We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia...- Human telomere disease due to disruption of the CCAAT box of the TERC promoterAnna M Aalbers
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Blood 119:3060-3. 2012..We propose that current mutation-screening strategies should include gene promoter regions for the diagnosis of telomere diseases. This clinical trial was registered at www.clinicaltrials.gov as #NCT00071045... - Defective stromal cell function in a mouse model of infusion-induced bone marrow failureJichun Chen
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
Exp Hematol 33:901-8. 2005..To study bone marrow (BM) stromal damage in a mouse model of infusion-induced BM failure... - Hematopoiesis in 3 dimensions: human and murine bone marrow architecture visualized by confocal microscopyTomoiku Takaku
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Blood 116:e41-55. 2010..The technique should be generally adaptable for basic laboratory investigation and for clinical diagnosis of hematologic diseases... - Minor antigen h60-mediated aplastic anemia is ameliorated by immunosuppression and the infusion of regulatory T cellsJichun Chen
Hematology Branch, National Heart, Lung, and Blood Institute, NIH Building 10, Clinical Research Center, 10 Center Drive, Bethesda, MD 20892, USA
J Immunol 178:4159-68. 2007..Immunosuppressive drug treatment or enhancement of regulatory T cell function abrogated this pathophysiology and protected animals from the development of BM failure... - Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemiaPhillip Scheinberg
Hematology Branch, National Heart, Lung, and Blood Institute, 10 Center Dr, Bldg 10 CRC, Room 3 5140, MSC 1202, Bethesda, MD 20892 1202, USA
JAMA 304:1358-64. 2010..Variations in telomere length have been reported in severe aplastic anemia but their clinical significance is unknown... - Telomere length is inherited with resetting of the telomere set-pointY Jeffrey Chiang
Experimental Immunology Branch, National Cancer Institute, Hematology Branch, National Heart, Lung and Blood Institute, and National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 107:10148-53. 2010..These findings suggest that the set point of telomere lengths of offspring is determined by the telomere lengths of their parents in the presence of normal expression of telomerase... - Aplastic anemiaNeal S Young
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892 1202, USA
Curr Opin Hematol 15:162-8. 2008.... - Interphase Chromosome Flow-FISHKeyvan Keyvanfar
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Blood 120:e54-9. 2012..IC Flow-FISH allows for detecting monosomy 7 without requiring bone marrow procurement or the necessity of metaphase spreads, and wider applications to other chromosomal abnormalities are in development... - Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemiaSharon A Savage
Section of Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 4605, USA
Exp Hematol 34:664-71. 2006..Abnormal telomere shortening has been observed in a subset of individuals with aplastic anemia (AA). We hypothesized that genetic variation in two genes critical in telomere biology, TERF1 and TERF2, could be a risk factor for AA... - Interleukin-23 receptor (IL-23R) gene polymorphisms in acquired aplastic anemiaTomoiku Takaku
Hematology Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA
Ann Hematol 88:653-7. 2009..Our results indicate that these three IL-23R SNPs and serum IL-23 level have no apparent impact on susceptibility to AA... - Natural history of pulmonary fibrosis in two subjects with the same telomerase mutationSouheil El-Chemaly
Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Chest 139:1203-9. 2011..TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT00071045; URL: www.clinicaltrials.gov... - BCL2A1a over-expression in murine hematopoietic stem and progenitor cells decreases apoptosis and results in hematopoietic transformationJean Yves Métais
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS ONE 7:e48267. 2012.... - PTPN22 620W allele is not associated with aplastic anemiaSolomon A Graf
Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA
Am J Hematol 82:291-2. 2007..Aplastic anemia thus joins a list of autoimmune diseases that commonly lack a major humoral disease component and do not associate with the PTPN22 variant... - Bystander destruction of hematopoietic progenitor and stem cells in a mouse model of infusion-induced bone marrow failureJichun Chen
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg 10, Rm 7C118, 9000 Rockville Pike, Bethesda, MD 20892 1652, USA
Blood 104:1671-8. 2004..quot; This effect can be partially abrogated by anti-IFN-gamma antibody... - Telomerase: not just for the elongation of telomeresRodrigo T Calado
Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Bioessays 28:109-12. 2006..These findings open new doors for future explorations to understand telomerase function and its interaction with other cell components in the regulation of cell senescence and tumorigenesis... - Current concepts in the pathophysiology and treatment of aplastic anemiaNeal S Young
Hematology Branch, National Heart, Lung, and Blood Institute NIH, 10 Center Drive, Bldg 10 CRC, Rm 3E 5140, Bethesda, MD 20892 1202, USA
Blood 108:2509-19. 2006..Recent results with alternative sources of stem cells and a variety of conditioning regimens to achieve their engraftment have been promising, with survival in small pediatric case series rivaling conventional transplantation results... - Immunologic aspects of hypoplastic myelodysplastic syndromeRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Semin Oncol 38:667-72. 2011..However, not all patients respond to immunosuppression, and the identification of relevant biomarkers for an immune mechanism is necessary to identify those patients who may benefit from this treatment modality... - Functional characterization of natural telomerase mutations found in patients with hematologic disordersZhong Tao Xin
Department of Pathology and Laboratory Medicine, Emory University, 105L Whitehead Biomedical Research Bldg, 615 Michael St, Atlanta, GA 30322, USA
Blood 109:524-32. 2007..Inherited telomerase gene mutations, therefore, operate by various mechanisms to shorten telomere lengths, leading to limited marrow stem cell reserve and renewal capacity in patients with hematologic disorders... - Reduced function of the multidrug resistance P-glycoprotein in CD34+ cells of patients with aplastic anaemiaRodrigo T Calado
Centre for Cell-Based Therapy, Department of Clinical Medicine, , , , SP, Brazil
Br J Haematol 118:320-6. 2002..1%, 0-67.7; P = 0.04), but it did not correlate with disease severity. These results indicate that P-gp function is defective in AA CD34+ cells, pointing to a role of P-gp in increased cell susceptibility to xenobiotics in AA... - Lack of mutations in the human telomerase RNA component (hTERC) gene in Fanconi's anemiaRodrigo T Calado
Haematologica 89:1012-3. 2004..Only one patient was heterozygous for the G58A polymorphism. No other mutation or deletion was found. We conclude that hTERC gene mutations do not contribute to telomere shortening in FA... - Assessment of monocytic component in acute myelomonocytic and monocytic/monoblastic leukemias by a chemiluminescent assayLuiz M da Fonseca
Department of Clinical Analysis, , Araraquara, Brazil
Hematol J 4:26-30. 2003..In conclusion, this chemiluminescent assay is a simple, fast and objective method, which may be useful as an alternative tool in the differential diagnosis of AML subtypes... - Functional characterization of telomerase RNA variants found in patients with hematologic disordersHinh Ly
Department of Pathology and Laboratory Medicine, Emory University, Whitehead Biomedical Research Bldg, 615 Michael St, Rm 175, Atlanta, GA 30322, USA
Blood 105:2332-9. 2005..Therefore, loss of telomerase activity and of telomere maintenance resulting from inherited hTERC mutations may limit marrow stem cell renewal and predispose some patients to bone marrow failure... - Aplastic anaemia and telomerase RNA mutationsRodrigo T Calado
Lancet 360:1608. 2002 - Influence of functional MDR1 gene polymorphisms on P-glycoprotein activity in CD34+ hematopoietic stem cellsRodrigo T Calado
Center for Cell Based Therapy, Department of Clinical Medicine, University of São Paulo at Ribeirão Preto Medical School, Av Bandeirantes 3900, Ribeirão Preto 14049 900 SP Brazil
Haematologica 87:564-8. 2002..We investigated whether T-129C, G26677T and C3435T polymorphisms influence P-glycoprotein function in stem cells... - MDR1 gene C3435T polymorphism and the risk of acquired aplastic anaemiaRodrigo T Calado
Br J Haematol 117:769. 2002