D N Finegold

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. ncbi Truncating mutations in FOXC2 cause multiple lymphedema syndromes
    D N Finegold
    Department of Human Genetics, Graduate School of Public Health, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Hum Mol Genet 10:1185-9. 2001
  2. ncbi Hereditary lymphedema: evidence for linkage and genetic heterogeneity
    R E Ferrell
    Departments of Human Genetics, Physical Medicine and Rehabilitation and Pediatrics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    Hum Mol Genet 7:2073-8. 1998
  3. ncbi Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia
    Y P Conley
    Department of Human Genetics, Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA
    Mol Genet Metab 71:591-8. 2000
  4. ncbi Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
    M J Karkkainen
    Molecular Cancer Biology Laboratory, Ludwig Institute for Cancer Research, Haartman Institute, University of Helsinki, Helsinki, Finland
    Nat Genet 25:153-9. 2000
  5. ncbi VEGFR3 gene structure, regulatory region, and sequence polymorphisms
    K Iljin
    Molecular/Cancer Biology Laboratory, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland
    FASEB J 15:1028-36. 2001
  6. pmc A model for gene therapy of human hereditary lymphedema
    M J Karkkainen
    Molecular Cancer Biology Laboratory and Ludwig Institute for Cancer Research, Haartman Institute and Helsinki University Hospital, Biomedicum Helsinki, University of Helsinki, P O B 63 Haartmaninkatu 8, 00014 Helsinki, Finland
    Proc Natl Acad Sci U S A 98:12677-82. 2001

Collaborators

  • Y P Conley
  • D G Peters
  • M J Karkkainen
  • R E Ferrell
  • E C Lawrence
  • K Alitalo
  • M A Kimak
  • K Pajusola
  • K Iljin
  • K L Levinson
  • A Saaristo
  • M Uutela
  • R Kauppinen
  • H Bueler
  • M I Kettunen
  • L Alhonen
  • J Taipale
  • A Eichmann
  • S Yla-Herttuala
  • L Jussila
  • K A Karila
  • M A McTigue
  • J H Esman
  • M M Barmada

Detail Information

Publications6

  1. ncbi Truncating mutations in FOXC2 cause multiple lymphedema syndromes
    D N Finegold
    Department of Human Genetics, Graduate School of Public Health, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Hum Mol Genet 10:1185-9. 2001
    ..Our data demonstrates that the phenotypic classification of autosomal dominant lymphedema does not reflect the underlying genetic causation of these disorders...
  2. ncbi Hereditary lymphedema: evidence for linkage and genetic heterogeneity
    R E Ferrell
    Departments of Human Genetics, Physical Medicine and Rehabilitation and Pediatrics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    Hum Mol Genet 7:2073-8. 1998
    ..This study localizes a gene for primary lymphedema to distal chromosome 5q, identifies a plausible candidate gene in the linked region, and provides evidence for a second, unlinked locus for primary lymphedema...
  3. ncbi Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia
    Y P Conley
    Department of Human Genetics, Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA
    Mol Genet Metab 71:591-8. 2000
    ..The data presented in this study suggest the importance of this highly negatively charged region of the extracellular domain in normal CASR function...
  4. ncbi Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
    M J Karkkainen
    Molecular Cancer Biology Laboratory, Ludwig Institute for Cancer Research, Haartman Institute, University of Helsinki, Helsinki, Finland
    Nat Genet 25:153-9. 2000
    ..Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema...
  5. ncbi VEGFR3 gene structure, regulatory region, and sequence polymorphisms
    K Iljin
    Molecular/Cancer Biology Laboratory, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland
    FASEB J 15:1028-36. 2001
    ..The sequence, organization, and variation in the VEGFR3 gene and its regulatory region provide important tools for the molecular genetic analysis of the lymphatic system and its disorders...
  6. pmc A model for gene therapy of human hereditary lymphedema
    M J Karkkainen
    Molecular Cancer Biology Laboratory and Ludwig Institute for Cancer Research, Haartman Institute and Helsinki University Hospital, Biomedicum Helsinki, University of Helsinki, P O B 63 Haartmaninkatu 8, 00014 Helsinki, Finland
    Proc Natl Acad Sci U S A 98:12677-82. 2001
    ..Our results suggest that growth factor gene therapy is applicable to human lymphedema and provide a paradigm for other diseases associated with mutant receptors...