Marina R Carpinelli

Summary

Affiliation: Royal Children's Hospital
Country: Australia

Publications

  1. pmc A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination
    Marina R Carpinelli
    Murdoch Childrens Research Institute, 50 Flemington Road, Parkville, VIC 3052, Australia The Hearing Cooperative Research Centre, 550 Swanston Street, University of Melbourne, VIC 3010, Australia
    Dis Model Mech 7:649-57. 2014
  2. pmc Two ENU-induced alleles of Atp2b2 cause deafness in mice
    Marina R Carpinelli
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    PLoS ONE 8:e67479. 2013
  3. pmc Anti-apoptotic gene Bcl2 is required for stapes development and hearing
    M R Carpinelli
    Molecular Hearing Laboratory, The Murdoch Children s Research Institute, Royal Children s Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia
    Cell Death Dis 3:e362. 2012
  4. pmc Regulation of hematopoietic stem cells by their mature progeny
    Carolyn A de Graaf
    Molecular Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia
    Proc Natl Acad Sci U S A 107:21689-94. 2010
  5. pmc A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia
    Ian J Majewski
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Proc Natl Acad Sci U S A 103:14146-51. 2006
  6. ncbi Programmed anuclear cell death delimits platelet life span
    Kylie D Mason
    Molecular Genetics of Cancer Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3050, Australia
    Cell 128:1173-86. 2007
  7. pmc Critical roles for c-Myb in lymphoid priming and early B-cell development
    Kylie T Greig
    The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
    Blood 115:2796-805. 2010
  8. doi Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome
    Marina R Carpinelli
    Murdoch Childrens Research Institute, Parkville, Victoria, Australia HEARing Cooperative Research Centre, University of Melbourne, Melbourne, Victoria, Australia
    Am J Pathol 185:1867-76. 2015
  9. pmc Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene
    Warren S Alexander
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Proc Natl Acad Sci U S A 103:16442-7. 2006
  10. ncbi Anomalous megakaryocytopoiesis in mice with mutations in the c-Myb gene
    Donald Metcalf
    Division of Cancer and Hematology, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Blood 105:3480-7. 2005

Collaborators

Detail Information

Publications14

  1. pmc A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination
    Marina R Carpinelli
    Murdoch Childrens Research Institute, 50 Flemington Road, Parkville, VIC 3052, Australia The Hearing Cooperative Research Centre, 550 Swanston Street, University of Melbourne, VIC 3010, Australia
    Dis Model Mech 7:649-57. 2014
    ..Our work reveals a hitherto unappreciated pathology in a mouse model of Canavan disease, implying that auditory brainstem response testing could be used in diagnosis and to monitor the progression of this disease...
  2. pmc Two ENU-induced alleles of Atp2b2 cause deafness in mice
    Marina R Carpinelli
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    PLoS ONE 8:e67479. 2013
    ..The Atp2b2 (Deaf13) mutation leads to a p. R561S substitution in the catalytic core. Mice homozygous for these mutations display profound hearing loss. Heterozygotes display mild to moderate, progressive hearing loss. ..
  3. pmc Anti-apoptotic gene Bcl2 is required for stapes development and hearing
    M R Carpinelli
    Molecular Hearing Laboratory, The Murdoch Children s Research Institute, Royal Children s Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia
    Cell Death Dis 3:e362. 2012
    ..These results implicate Bcl2 and Bim in regulating survival of second pharyngeal arch or neural crest cells that give rise to the stapes during embryonic development...
  4. pmc Regulation of hematopoietic stem cells by their mature progeny
    Carolyn A de Graaf
    Molecular Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia
    Proc Natl Acad Sci U S A 107:21689-94. 2010
    ..These studies suggest that disorders of platelet number can have profound effects on the HSC compartment via effects on the feedback regulation of circulating TPO concentration...
  5. pmc A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia
    Ian J Majewski
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Proc Natl Acad Sci U S A 103:14146-51. 2006
    ..Although the equivalent mutation to Gata-1Plt13 in humans results in production of GATA-1s, a short protein isoform initiated from a start codon downstream of the mutated initiation codon, Gata-1s was not detected in Gata-1Plt13/+ mice...
  6. ncbi Programmed anuclear cell death delimits platelet life span
    Kylie D Mason
    Molecular Genetics of Cancer Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3050, Australia
    Cell 128:1173-86. 2007
    ....
  7. pmc Critical roles for c-Myb in lymphoid priming and early B-cell development
    Kylie T Greig
    The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
    Blood 115:2796-805. 2010
    ..These data show that c-Myb plays a critical role in the regulatory pathways governing lymphoid specification and early B-cell differentiation...
  8. doi Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome
    Marina R Carpinelli
    Murdoch Childrens Research Institute, Parkville, Victoria, Australia HEARing Cooperative Research Centre, University of Melbourne, Melbourne, Victoria, Australia
    Am J Pathol 185:1867-76. 2015
    ..Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1. ..
  9. pmc Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene
    Warren S Alexander
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Proc Natl Acad Sci U S A 103:16442-7. 2006
    ..The disease in plt1/plt1 mice suggests that, in addition to immune-mediated effects, intrinsic C1Gal-T1 deficiency in megakaryocytes and the kidney may contribute to pathology...
  10. ncbi Anomalous megakaryocytopoiesis in mice with mutations in the c-Myb gene
    Donald Metcalf
    Division of Cancer and Hematology, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Blood 105:3480-7. 2005
    ....
  11. doi Vitamin D-deficient diet rescues hearing loss in Klotho mice
    Marina R Carpinelli
    Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3050, Australia
    Hear Res 275:105-9. 2011
    ..These findings implicate the vitamin D metabolic pathway in hearing loss and pose questions as to the mechanism by which elevated calcitriol levels mediate such hearing loss...
  12. pmc CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment
    Jacqueline M Ogier
    Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    PLoS ONE 9:e97559. 2014
    ..Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment. ..
  13. pmc An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets
    Marina R Carpinelli
    Walter and Eliza Hall Institute of Medical Research, Post Office Royal Melbourne Hospital, Victoria, Australia
    Am J Pathol 161:1925-33. 2002
    ....
  14. pmc Suppressor screen in Mpl-/- mice: c-Myb mutation causes supraphysiological production of platelets in the absence of thrombopoietin signaling
    Marina R Carpinelli
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville VIC 3052, Australia
    Proc Natl Acad Sci U S A 101:6553-8. 2004
    ....