Monica Bessler

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc Dysferlin and other non-red cell proteins accumulate in the red cell membrane of diamond-blackfan anemia patients
    Esther N Pesciotta
    Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 9:e85504. 2014
  2. pmc Dyskeratosis congenita
    Monica Bessler
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    FEBS Lett 584:3831-8. 2010
  3. pmc Dyskerin ablation in mouse liver inhibits rRNA processing and cell division
    Jingping Ge
    Division Hematology, Department Internal Medicine, Washington University School of Medicine, 660 S Euclid Ave, Box 8125, St Louis, MO 63110, USA
    Mol Cell Biol 30:413-22. 2010
  4. pmc Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome
    Hong yan DU
    Department of Internal Medicine, Washington Uiversity School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Aging Cell 6:689-97. 2007
  5. pmc The role of human ribosomal proteins in the maturation of rRNA and ribosome production
    Sara Robledo
    Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    RNA 14:1918-29. 2008
  6. pmc Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment
    Bai Wei Gu
    Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO, USA
    Aging Cell 10:338-48. 2011
  7. pmc SnoRNA microarray analysis reveals changes in H/ACA and C/D RNA levels caused by dyskerin ablation in mouse liver
    Jingping Ge
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Biochem J 429:33-41. 2010
  8. pmc Variable expression of Dkc1 mutations in mice
    Jun He
    Department of Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Genesis 47:366-73. 2009
  9. pmc A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex
    Paraskevi Vogiatzi
    Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania, PA 19104, USA
    Pediatr Blood Cancer 60:E4-6. 2013
  10. pmc A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
    Bai Wei Gu
    Department of Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 105:10173-8. 2008

Research Grants

  1. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2004
  2. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2005
  3. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2006
  4. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2007
  5. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2010
  6. CHANGES IN THE RBC PROTEOME DURING HEALTH AND DISEASE
    Monica Bessler; Fiscal Year: 2010

Collaborators

Detail Information

Publications37

  1. pmc Dysferlin and other non-red cell proteins accumulate in the red cell membrane of diamond-blackfan anemia patients
    Esther N Pesciotta
    Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 9:e85504. 2014
    ..Immunoblot validation using red cell membranes isolated from additional DBA patients and healthy controls confirmed a distinct membrane protein signature specific to patients with DBA. ..
  2. pmc Dyskeratosis congenita
    Monica Bessler
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    FEBS Lett 584:3831-8. 2010
    ..The degree of telomere dysfunction is the major determinant of disease onset and manifestations...
  3. pmc Dyskerin ablation in mouse liver inhibits rRNA processing and cell division
    Jingping Ge
    Division Hematology, Department Internal Medicine, Washington University School of Medicine, 660 S Euclid Ave, Box 8125, St Louis, MO 63110, USA
    Mol Cell Biol 30:413-22. 2010
    ..We conclude that hepatocytes can survive without dyskerin but that the role of dyskerin in RNA modification is essential for cellular proliferation...
  4. pmc Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome
    Hong yan DU
    Department of Internal Medicine, Washington Uiversity School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Aging Cell 6:689-97. 2007
    ..However, our results suggest that several generations of TERT haploinsufficiency are needed to produce the very short telomeres seen in patients with DC...
  5. pmc The role of human ribosomal proteins in the maturation of rRNA and ribosome production
    Sara Robledo
    Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    RNA 14:1918-29. 2008
    ....
  6. pmc Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment
    Bai Wei Gu
    Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO, USA
    Aging Cell 10:338-48. 2011
    ....
  7. pmc SnoRNA microarray analysis reveals changes in H/ACA and C/D RNA levels caused by dyskerin ablation in mouse liver
    Jingping Ge
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Biochem J 429:33-41. 2010
    ..The increase in C/D snoRNAs corresponded with an increase in the abundance of the mRNAs transcribed from snoRNA host genes, suggesting the increase may be part of a cellular response to defective ribosome synthesis...
  8. pmc Variable expression of Dkc1 mutations in mice
    Jun He
    Department of Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Genesis 47:366-73. 2009
    ..Expression of RNA and protein was reduced compared to wild type animals, but no abnormalities of growth and development or in blood values were found in mutant mice. Thus Dkc1 mutations have variable expression in mice, as in humans...
  9. pmc A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex
    Paraskevi Vogiatzi
    Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania, PA 19104, USA
    Pediatr Blood Cancer 60:E4-6. 2013
    ....
  10. pmc A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
    Bai Wei Gu
    Department of Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 105:10173-8. 2008
    ..Thus, dyskerin interacts with telomerase and affects telomere maintenance independently of telomere length...
  11. pmc TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
    Hong yan DU
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Blood 113:309-16. 2009
    ..We conclude that in the setting of BMF, measurement of telomere length is a sensitive but nonspecific screening method for DC. In the absence of BMF, telomere length measurements should be interpreted with caution...
  12. pmc Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene
    Hong yan DU
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Blood 111:1128-30. 2008
    ..Thus in these families the expression of both TERT alleles and the inherited telomere length contribute to the clinical phenotype...
  13. pmc Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
    Yuko Mochizuki
    Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 101:10756-61. 2004
    ..Hence, our findings show that point mutations in dyskerin may affect both the telomerase and pseudouridylation pathways and the extent to which these functions are altered can vary for different mutations...
  14. pmc Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations
    Bai Wei Gu
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    FEBS Lett 583:3086-90. 2009
    ..The anomalously migrating RNA is turned over rapidly. Analysis of ribosomal RNA in these cells suggests the altered mobility is due to inefficient pseudouridylation...
  15. doi request reprint Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association
    Sharon McDonald
    Department of Pediatrics, Washington University School of Medicine, St Louis Children s Hospital, St Louis, MO 63110, USA
    Pediatr Blood Cancer 54:154-7. 2010
    ..We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association...
  16. ncbi request reprint Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome
    Joshua J Field
    Department of Pathology, Washington University School of Medicine, St Louis, MO 63110, USA
    J Pediatr Hematol Oncol 28:450-3. 2006
    ..Screening for TERC gene mutations is unlikely to diagnose occult DC in children with severe bone marrow failure who require a hematopoietic stem cell transplant...
  17. ncbi request reprint Dyskeratosis congenita and telomerase
    Monica Bessler
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Curr Opin Pediatr 16:23-8. 2004
    ..This review highlights recent research on dyskeratosis congenita and its relevance to other fields, including cancer and aging...
  18. pmc Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients
    Loic Garcon
    Division of Hematology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Blood 122:912-21. 2013
    ....
  19. pmc The genetics of dyskeratosis congenita
    Philip J Mason
    Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, USA
    Cancer Genet 204:635-45. 2011
    ..Here we discuss the genetics of DC and its relationship to disease presentation...
  20. pmc 3'UTR-truncated Hmga2 cDNA causes MPN-like hematopoiesis by conferring a clonal growth advantage at the level of HSC in mice
    Kazuhiko Ikeda
    Division of Hematology, Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Blood 117:5860-9. 2011
    ....
  21. pmc Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes
    Daria V Babushok
    Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Br J Haematol 164:73-82. 2014
    ..Our analysis of clinical utility of SNP-A shows the highest yield of detecting new clonal haematopoiesis at diagnosis and at relapse. ..
  22. pmc Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients
    Daria V Babushok
    Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
    Am J Hematol 88:862-7. 2013
    ..We propose a model whereby protein adducts generated by reactive metabolites serve as neo-epitopes to trigger autoimmunity in aplastic anemia...
  23. ncbi request reprint Dyskerin, telomerase and the DNA damage response
    Baiwei Gu
    Division of Hematology, Department of Medicine, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Cell Cycle 8:6-10. 2009
    ..Here we discuss these results in terms of the role of dyskerin in telomere maintenance and the possible role that the DNA damage response plays in the pathogenesis of DC...
  24. ncbi request reprint G-CSF induced progenitor mobilization in mice with PIGA- blood cells
    Bing Han
    Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Hematol J 5:347-52. 2004
    ..This suggested that GPI-linked proteins contribute to the regulation of progenitor trafficking from bone marrow to peripheral blood...
  25. ncbi request reprint Heterozygous telomerase deficiency in mouse and man: when less is definitely not more
    Philip J Mason
    Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Cell Cycle 3:1127-9. 2004
    ..Here we review several scenarios in which telomerase levels are disturbed, in human diseases or following genetic manipulation in mice...
  26. pmc Recent insights into inherited bone marrow failure syndromes
    Shefali Parikh
    Division of Hematology, Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Curr Opin Pediatr 24:23-32. 2012
    ..The purpose of this review is to highlight novel findings in recent years and their impact on the understanding of IBMFS...
  27. ncbi request reprint Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production
    Rachel A Idol
    Department of Internal Medicine, Division of Hematology, Division of Laboratory Medicine, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Blood Cells Mol Dis 39:35-43. 2007
    ..We conclude that defects in ribosome biogenesis may underlie the pathology of Diamond Blackfan Anemia...
  28. pmc A label-free proteome analysis strategy for identifying quantitative changes in erythrocyte membranes induced by red cell disorders
    Esther N Pesciotta
    Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA
    J Proteomics 76:194-202. 2012
    ..This article is part of a Special Issue entitled: Integrated omics...
  29. ncbi request reprint Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
    Jun He
    Department of Internal Medicine, Div Hematology, Washington University School of Medicine, St Louis, Missouri, MO 63110, USA
    Oncogene 21:7740-4. 2002
    ..Since mice with no telomerase are viable in the first generations the lethality we observe is unlikely to be due to the effects of mutated dyskerin on telomerase activity...
  30. ncbi request reprint Immunosuppressive therapy for acute porphyria: safety and efficacy in a patient with bone marrow failure
    Joshua J Field
    Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Pharmacotherapy 26:1662-6. 2006
    ..Until more data are available, clinicians should consider immunosuppressive therapy as a safe option for treating certain patients with acute intermittent porphyria...
  31. pmc Acquired aplastic anemia in children
    Helge D Hartung
    Division of Hematology, Department of Pediatrics, Comprehensive Bone Marrow Failure Center, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, ARC 302, Philadelphia, PA 19104, USA
    Pediatr Clin North Am 60:1311-36. 2013
    ..The aim is to provide the clinician with a better understanding of the disease and to offer guidelines for the management of children with this uncommon yet serious disorder. ..
  32. ncbi request reprint Effect of proinflammatory cytokines on PIGA- hematopoiesis
    Shashikant Kulkarni
    Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
    Exp Hematol 31:770-8. 2003
    ..Here we investigated the effects of inhibitory cytokines in mice genetically engineered to have blood cells deficient in GPI-linked proteins...
  33. ncbi request reprint A novel mechanism of complement-independent clearance of red cells deficient in glycosyl phosphatidylinositol-linked proteins
    Marek Jasinski
    Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Blood 103:2827-34. 2004
    ..Future investigations will show whether this novel pathway of PIGA- RBC destruction identified in mice may also operate in patients with PNH...
  34. ncbi request reprint ScFv-mediated in vivo targeting of DAF to erythrocytes inhibits lysis by complement
    Dirk Spitzer
    Division of Rheumatology, Washington University School of Medicine, 660 S Euclid Avenue, Campus Box 8045, St Louis, MO 63110, USA
    Mol Immunol 40:911-9. 2004
    ..This approach should therefore be applicable for diseases caused by a membrane protein deficiency such as paroxysmal nocturnal hemoglobinuria (PNH)...
  35. ncbi request reprint Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
    Jill R Woloszynek
    Division of Oncology, Department of Medicine, Genome Sequencing Center, Washington University School of Medicine, St Louis, MO, USA
    Blood 104:3588-90. 2004
    ..The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history...
  36. pmc Diagnosis and management of paroxysmal nocturnal hemoglobinuria
    Charles Parker
    Division of Hematology, University of Utah School of Medicine and Hematology Oncology Section 111H, George E Whalen VA Medical Center, Salt Lake City, UT 84148, USA
    Blood 106:3699-709. 2005
  37. pmc Cytokinesis failure and attenuation: new findings in Fanconi anemia
    Philip J Mason
    Division of Hematology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    J Clin Invest 121:27-30. 2011
    ..Two studies recently published in the JCI, including one in this issue, will add to the debate. They also highlight the fact that studying rare disorders can elucidate important new clinical and biological principles...

Research Grants6

  1. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2004
    ....
  2. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2005
    ....
  3. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2006
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  4. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2007
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  5. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2010
    ..These experiments will hopefully identify new treatments for patients with DC and possibly also for patients with other types of BMF. ..
  6. CHANGES IN THE RBC PROTEOME DURING HEALTH AND DISEASE
    Monica Bessler; Fiscal Year: 2010
    ..Furthermore, the platform we develop should prove broadly applicable to the quantitative comparison of RBC proteomes of varying physiological or disease states. ..