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Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. We(More)
Signaling output of bone morphogenetic proteins (BMPs) is determined by two sets of opposing interactions, one with heterotetrameric complexes of cell surface receptors, the other with secreted antagonists that act as ligand traps. We identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5.(More)
This report describes work performed by the Collaborative Agent Design Research Center (CADRC) over the past several years in the design and implementation of collaborative, computer-based, decision-support systems, mostly for military applications. In these systems multiple components, either program modules or separate processes (i.e., software agents),(More)
For the past 20 years the US military services have suffered under the limitations of stove-piped computer software applications that function as discrete entities within a fragmented data-processing environment. Lack of interoperability has been identified by numerous think tanks, advisory boards, and studies, as the primary information systems problem (e.(More)
This paper draws attention to the profound changes that human civilization is experiencing as it moves from an industrial environment into an information environment, in which unprecedented emphasis is placed on the knowledge and capabilities of the individual. A clear distinction is drawn between data and information in relationship to computer-based(More)
Skin fibroblast cultures were treated with various components of the blood clotting system (thrombin, fibrinogen and fibrin) during the logarithmic growth phase. Fibrin as well as thrombin showed dose-dependent growth promoting activities as revealed by cell counting and 3H-thymidine uptake. No effect was seen with fibrinogen. After entrapping in(More)
We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. The observed mutation is located at the processing site of the protein, at which the GDF5 precursor is thought to be cleaved releasing the mature molecule(More)
The brachydactylies are a group of inherited disorders of the hands characterized by shortened digits. Mutations in the tyrosine kinase receptor Ror2 cause brachydactyly type B (BDB). Mutations in GDF5, a member of the BMP/TGF-beta ligand family, cause brachydactyly type C (BDC) whereas mutations in the receptor for GDF5, BRI-b, cause brachydactyly type A2(More)