Shireen R Lamande

Summary

Affiliation: Royal Children's Hospital
Country: Australia

Publications

  1. ncbi Mutations in TRPV4 cause an inherited arthropathy of hands and feet
    Shireen R Lamande
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Nat Genet 43:1142-6. 2011
  2. ncbi The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells
    Shireen R Lamande
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville 3052, Victoria, Australia
    J Biol Chem 281:16607-14. 2006
  3. ncbi Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
    Rishika A Pace
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
    Ann Neurol 64:294-303. 2008
  4. ncbi Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy
    Leona D Tooley
    Departments of Paediatrics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 285:33567-76. 2010
  5. ncbi Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
    Naomi L Baker
    Cell and Matrix Biology, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mol Genet 14:279-93. 2005
  6. ncbi Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function
    Justin M Allen
    Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 284:12020-30. 2009
  7. ncbi Molecular consequences of dominant Bethlem myopathy collagen VI mutations
    Naomi L Baker
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Ann Neurol 62:390-405. 2007
  8. ncbi Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia
    Jacqueline T Tan
    Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    Am J Hum Genet 82:786-93. 2008
  9. ncbi Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
    John F Bateman
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Childrens Hospital, Parkville, Victoria 3052, Australia
    Nat Rev Genet 10:173-83. 2009
  10. ncbi Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia
    John F Bateman
    Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mutat 25:525-34. 2005

Collaborators

Detail Information

Publications13

  1. ncbi Mutations in TRPV4 cause an inherited arthropathy of hands and feet
    Shireen R Lamande
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Nat Genet 43:1142-6. 2011
    ..Our data raise the possibility that TRPV4 may also have a role in age- or injury-related osteoarthritis...
  2. ncbi The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells
    Shireen R Lamande
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville 3052, Victoria, Australia
    J Biol Chem 281:16607-14. 2006
    ..The alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts demonstrating that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation...
  3. ncbi Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
    Rishika A Pace
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
    Ann Neurol 64:294-303. 2008
    ..Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes...
  4. ncbi Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy
    Leona D Tooley
    Departments of Paediatrics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 285:33567-76. 2010
    ....
  5. ncbi Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
    Naomi L Baker
    Cell and Matrix Biology, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mol Genet 14:279-93. 2005
    ..Mutation detection in this disorder remains critical for accurate genetic counseling of patients and their families...
  6. ncbi Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function
    Justin M Allen
    Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 284:12020-30. 2009
    ..Our data demonstrate that although WARP is not essential for basement membrane formation or musculoskeletal development, it has critical roles in the structure and function of peripheral nerves...
  7. ncbi Molecular consequences of dominant Bethlem myopathy collagen VI mutations
    Naomi L Baker
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Ann Neurol 62:390-405. 2007
    ..Although more than 20 different dominant mutations have been identified in Bethlem myopathy patients, the biosynthetic consequences of only a subset of these have been studied, and in many cases, the pathogenic mechanisms remain unknown...
  8. ncbi Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia
    Jacqueline T Tan
    Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    Am J Hum Genet 82:786-93. 2008
    ....
  9. ncbi Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
    John F Bateman
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Childrens Hospital, Parkville, Victoria 3052, Australia
    Nat Rev Genet 10:173-83. 2009
    ..Moreover, recent experiments suggest that endoplasmic reticulum (ER) stress, caused by mutant misfolded ECM proteins, contributes to the molecular pathology. Targeting ER stress might offer a new therapeutic strategy...
  10. ncbi Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia
    John F Bateman
    Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mutat 25:525-34. 2005
    ..Thus for both classes of mutations, functional haploinsufficiency is the most probable cause of the clinical phenotype in SMCD...
  11. ncbi Familial digital arthropathy-brachydactyly
    David J Amor
    Genetic Health Services Victoria, Royal Children s Hospital, Victoria, Australia
    Am J Med Genet 108:235-40. 2002
    ....
  12. ncbi TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
    Elena Andreucci
    Genetic Health Services Victoria and Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Orphanet J Rare Dis 6:37. 2011
    ..Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes...
  13. ncbi Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations
    Shireen R Lamande
    Cell and Matrix Biology Research Unit, Department of Paediatrics, University of Melbourne, The Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 277:1949-56. 2002
    ....