Affiliation: Oregon Health and Science University
- Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto
Provincial Medical Genetics Program, Department of Medical Genetics, Children s and Women s Health Centre of BC, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada
Orphanet J Rare Dis 7:70. 2012..However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown...
- 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)J Zonana
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97221, USA
Am J Hum Genet 67:1555-62. 2000....
- Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutationsJordan S Orange
Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
J Clin Invest 109:1501-9. 2002..These data suggest that NEMO participates in signaling pathways leading to NK cell cytotoxicity and that IL-2 can activate NF-kappaB and partially overcome the NK cell defect in patients with NEMO mutations...
- HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSISJonathan Zonana; Fiscal Year: 2002..At the same time, the new knowledge should rapidly result in improved genetic diagnosis and counseling, and may even suggest avenues for future therapies. ..