MEANS AND METHODS FOR DIAGNOSING AND TREATING CRANIOFACIAL MALFORMATIONS

摘要

The present invention relates to a variant foxd3 polynucleotide, a gene comprising said polynucleotide, and a vector comprising the polynucleotide or the said gene. The present invention encompasses a host cell genetically engineered with the polynucleotide, the gene or the vector of the invention. The present invention relates to a method for producing a molecular variant foxd3 polypeptide or fragment. Also encompassed by the present invention is a polypeptide or fragment thereof encoded by the polynucleotide, the gene or which is obtainable by the method of the invention. Furthermore, the invention relates to an antibody which binds specifically to the polypeptide of the invention. The present invention also encompasses a solid support comprising one or a pluirality of the polynucleotide, the gene, the vector, the polypeptide, the antibody or the host cell of the invention in immobilized form. The present invention relates to a method for obtaining and/or identifying an inhibitor or antagonist or an activator or agonist of foxd3 activity. The present invention relates also to a method for the production of a pharmaceutical composition. Moreover, the present invention relates to a method for obtaining and/or identifying a polynucleotide which is associated with craniofacial malformation. Diagnostic and pharmaceutical composition are also encompassed by the present invention. The present invention relates to the use of the polynucleotide, the gene, the polypeptide, the antibody or the solid support of the invention for the preparation of a diagnostic or pharmaceutical composition for diagnosing, treating and/or preventing craniofacial malformations. The present invention further encompasses the use of an antagonist or inhibitor obtainable by any one methods for the preparation of a pharmaceutical composition for treating and/or preventing diseases or disorders which are caused by or related to foxd3 overexpression. Finally, the present invention relates to a kit.