Search Results - (Author, Cooperation:C. Mullighan)
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1J. Zhang ; C. A. Benavente ; J. McEvoy ; J. Flores-Otero ; L. Ding ; X. Chen ; A. Ulyanov ; G. Wu ; M. Wilson ; J. Wang ; R. Brennan ; M. Rusch ; A. L. Manning ; J. Ma ; J. Easton ; S. Shurtleff ; C. Mullighan ; S. Pounds ; S. Mukatira ; P. Gupta ; G. Neale ; D. Zhao ; C. Lu ; R. S. Fulton ; L. L. Fulton ; X. Hong ; D. J. Dooling ; K. Ochoa ; C. Naeve ; N. J. Dyson ; E. R. Mardis ; A. Bahrami ; D. Ellison ; R. K. Wilson ; J. R. Downing ; M. A. Dyer
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-01-13Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Aneuploidy ; Animals ; Cell Death/drug effects ; Cell Line ; Cell Survival/drug effects ; Chromosomal Instability/genetics ; Epigenesis, Genetic/*genetics ; Gene Expression Regulation, Neoplastic ; Genes, Retinoblastoma/genetics ; *Genomics ; Humans ; Intracellular Signaling Peptides and Proteins/antagonists & ; inhibitors/genetics/metabolism ; Mice ; *Molecular Targeted Therapy ; Mutation/genetics ; Protein Kinase Inhibitors/*pharmacology/therapeutic use ; Protein-Tyrosine Kinases/antagonists & inhibitors/genetics/metabolism ; Retinoblastoma/*drug therapy/*genetics/pathology ; Retinoblastoma Protein/deficiency/genetics ; Sequence Analysis, DNA ; Xenograft Model Antitumor AssaysPublished by: -
2Minchinton, R. M. ; Dean, M. M. ; Clark, T. R. ; Heatley, S. ; Mullighan, C. G.
Oxford, UK : Blackwell Science Ltd
Published 2002Staff ViewISSN: 1365-3083Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: The mannose-binding lectin (MBL) pathway of complement activation is an important component of innate host defence. Numerous studies have described associations between the MBL genotype, MBL levels and disease susceptibility. However, genotyping and quantitative assays used in these studies have frequently been limited, and comprehensive data examining the interaction between structural and coding MBL genetic variants, MBL antigenic levels and MBL functional activity are lacking. Such data may be important for accurate planning and interpretation of studies of MBL and disease. This study has examined MBL in a cohort of 236 Australian blood donors. Five MBL promoter and coding single nucleotide polymorphisms were genotyped using polymerase chain reaction–sequence-specific priming (PCR–SSP). Plasma levels of MBL antigen were quantified using a double-antibody enzyme-linked immunosorbent assay (ELISA), and functional MBL levels were quantified using a mannan-binding assay. Activation of the complement pathway by MBL was measured in a C4-deposition assay. Significant associations were found between both coding and promoter polymorphisms and MBL antigenic and functional levels. There was significant correlation between the results of MBL double-antibody, mannan-binding and C4-deposition assays. Comprehensive MBL genotyping and functional MBL quantitation using mannan-binding and C4-deposition assays have the potential to be highly informative in MBL disease association studies.Type of Medium: Electronic ResourceURL: -
3Mullighan, C. G. ; Read, S. J. ; Bird, A. G. ; Kurtz, J. B. ; Chapel, H. M. ; Welsh, K. I.
Springer
Published 1996Staff ViewISSN: 1573-2592Keywords: Common variable immunodeficiency ; human cytomegalovirus ; polymerase chain reaction ; antigenemia ; alkaline phosphatase/anti-alkaline phosphataseSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract It has been postulated that human cytomegalovirus (HCMV) infection may have a role in the pathogenesis of common variable immunodeficiency (CVID). Many patients have a lymphocyte phenotype similar to that seen in HCMV infection, HCMV mononucleosis may precipitate hypogammaglobulinaemia, and a previous small study of common variable immunodeficient patients reported a high rate of active HCMV infection. This study investigated the presence and activity of HCMV infection in 102 CVID patients. Buffy coats were examined for the presence of HCMV IE and glycoprotein B genes using highly sensitive nested PCR. 30 blood donors of known HCMV serologic status were used as controls. There was no significant difference in HCMV positivity by PCR between patients and controls. Enrichment for mononuclear cells prior to PCR had no effect on sensitivity. Twenty-five patients were also examined for HCMV antigenaemia by staining buffy coat cytospins with monoclonal antibodies directed against the HCMV pp65 lower matrix protein, a technique widely used for diagnosis of active HCMV disease. Only one patient was positive (and also positive by PCR). Whilst these results do not exclude prior infection contributing to antibody deficiency in a small proportion of CVID patients, this study refutes the previously reported increase in active HCMV infection in CVID.Type of Medium: Electronic ResourceURL: -
4Roberts, K. G., Reshmi, S. C., Harvey, R. C., Chen, I.-M., Patel, K., Stonerock, E., Jenkins, H., Dai, Y., Valentine, M., Gu, Z., Zhao, Y., Zhang, J., Payne-Turner, D., Devidas, M., Heerema, N. A., Carroll, A. J., Raetz, E. A., Borowitz, M. J., Wood, B. L., Mattano, L. A., Maloney, K. W., Carroll, W. L., Loh, M. L., Willman, C. L., Gastier-Foster, J. M., Mullighan, C. G., Hunger, S. P.
American Society of Hematology (ASH)
Published 2018Staff ViewPublication Date: 2018-08-24Publisher: American Society of Hematology (ASH)Print ISSN: 0006-4971Electronic ISSN: 1528-0020Topics: BiologyMedicineKeywords: Pediatric Hematology, Lymphoid Neoplasia, Clinical Trials and ObservationsPublished by: -
5Roberts, K. G., Janke, L. J., Zhao, Y., Seth, A., Ma, J., Finkelstein, D., Smith, S., Ebata, K., Tuch, B. B., Hunger, S. P., Mullighan, C. G.
American Society of Hematology (ASH)
Published 2018Staff ViewPublication Date: 2018-08-24Publisher: American Society of Hematology (ASH)Print ISSN: 0006-4971Electronic ISSN: 1528-0020Topics: BiologyMedicineKeywords: Lymphoid NeoplasiaPublished by: