Agency
National Institute of Health (NIH)
Institute
National Institute of Dental & Craniofacial Research (NIDCR)
Type
Research Project (R01)
Project #
5R01DE011311-06
Application #
2132556
Study Section
General Medicine A Subcommittee 2 (GMA)
Project Start
1991-07-01
Project End
1998-07-31
Budget Start
1996-08-01
Budget End
1997-07-31
Support Year
6
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Oregon Health and Science University
Department
Genetics
Type
Schools of Medicine
DUNS #
009584210
City
Portland
State
OR
Country
United States
Zip Code
97239
Orange, Jordan S; Brodeur, Scott R; Jain, Ashish et al. (2002) Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest 109:1501-9
Chen, Y; Molloy, S S; Thomas, L et al. (2001) Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci U S A 98:7218-23
Schneider, P; Street, S L; Gaide, O et al. (2001) Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 276:18819-27
Zonana, J; Elder, M E; Schneider, L C et al. (2000) A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67:1555-62
Kibar, Z; Dube, M P; Powell, J et al. (2000) Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur J Hum Genet 8:372-80
Monreal, A W; Ferguson, B M; Headon, D J et al. (1999) Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 22:366-9
Ferguson, B M; Thomas, N S; Munoz, F et al. (1998) Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J Med Genet 35:112-5
Monreal, A W; Zonana, J; Ferguson, B (1998) Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 63:380-9
Taylor, T D; Hayflick, S J; McKinnon, W et al. (1998) Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. J Invest Dermatol 111:83-5
Ferguson, B M; Brockdorff, N; Formstone, E et al. (1997) Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain. Hum Mol Genet 6:1589-94

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