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Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

Article Abstract:

Study is conducted to show that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries. The findings implicate perturbations of the TGF-[beta] signaling pathway in the causation of a major subclass of human congenial heart defects (CHDs).

Author: Lee, J.S., Karkera, J.D., Roessler, E., Banerjee-Basu S., Ouspenskaia, M.V., Mez, J., Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J.W., Baxevanis, A.D., Schier, A.F., Muenke, M.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Heart diseases, Growth factors

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Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia

Article Abstract:

The postnatal administration of (defective ectodysplasin A) Fc:EDA1 in dogs that has a prominent effect on permanent dentition and significantly improves long-term resistance to eye and airway infections through restoration of glandular functions are demonstrated.

Author: Demotz, Stephane, Gaide, Olivier, Schneider, Pascal, Lewis, John R., Tardivel, Aubry, Casal, Margret L., Mauldin, Elizabeth A., Ingold, Karine, Favre, Manuel, Paradies, Fabrice
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Health aspects, Dogs, Dentition, Ectodermal dysplasia

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Subjects list: Research, United States, Genetic aspects, Mutation (Biology), Mutation, Report
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