32 research outputs found
The role of γ-carboxyglutamil residues in the positive cooperative binding of Ca<sup>2+</sup> to blood coagulation factor X
Activation of decarboxyfactor X by a protein from Russel's Viper venom:Purification and partial characterization of activated decarboxyfactor X
The effect of γ-carboxyglutamate residues on the enzymatic properties of the activated blood clotting factor X:I. Activity towards synthetic substrates
Purification and properties of the phenprocoumon-induced decarboxyfactor x from bovine plasma:A comparison to normal factor x
The role of blood clotting factor V in the conversion of prothrombin and a decarboxy prothrombin into thrombin
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
AbstractCleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder