D N Finegold
Affiliation: University of Pittsburgh
- Truncating mutations in FOXC2 cause multiple lymphedema syndromesD 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...
- Hereditary lymphedema: evidence for linkage and genetic heterogeneityR 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...
- Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemiaY 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...
- Missense mutations interfere with VEGFR-3 signalling in primary lymphoedemaM 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...
- VEGFR3 gene structure, regulatory region, and sequence polymorphismsK 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...
- A model for gene therapy of human hereditary lymphedemaM 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...