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).
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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