Abstract: Subject of the present invention is an isolated human nucleic acid molecule encoding polypeptides containing a homeobox domain of sixty amino acids having the amino acid sequence of SEQ ID NO: 1 and having regulating activity on human growth. Three novel genes residing within the about 500 kb short stature critical region on the X and Y chromosome were identified. At least one of these genes is responsible for the short stature phenotype. The cDNA corresponding to this gene may be used in diagnostic tools, and to further characterize the molecular basis for the short stature-phenotype. In addition, the identification of the gene product of the gene provides new means and methods for the development of superior therapies for short stature.

Abstract: The invention relates to the use of natriuretic peptides (ANP or BNP) for the preparation of pharmaceutical compositions for the treatment of short stature in a subject being suspected of having a genetic defect in the human SHOX gene. Further, the invention relates to use of natriuretic peptides in combination with a growth protein and/or a SHOX protein for the preparation of pharmaceutical compositions for the treatment of patients having a SHOX gene disorder. The invention also relates to the use of natriuretic peptides (ANP and BNP) in combination with a SHOX protein for the preparation of pharmaceutical compositions for the treatment of patients with cardiovascular diseases. The invention also comprises an article of manufacture comprising packaging material and a pharmaceutical composition comprising natriuretic peptides.

Abstract: Subject of the present invention is an isolated human nucleic acid molecule encoding polypeptides containing a homeobox domain of sixty amino acids having the amino acid sequence of SEQ ID NO: 1 and having regulating activity on human growth. Three novel genes residing within the about 500 kb short stature critical region on the X and Y chromosome were identified. At least one of these genes is responsible for the short stature phenotype. The cDNA corresponding to this gene may be used in diagnostic tools, and to further characterize the molecular basis for the short stature-phenotype. In addition, the identification of the gene product of the gene provides new means and methods for the development of superior therapies for short stature.

Abstract: The application relates to isolated regions and genes from the Y chromosome which encompass the Y specific growth gene GCY. Probes and primers are also provided.

Abstract: The invention relates to the use of natriuretic peptides (ANP or BNP) for the preparation of pharmaceutical compositions for the treatment of short stature in a subject being suspected of having a genetic defect in the human SHOX gene. Further, the invention relates to use of natriuretic peptides in combination with a growth protein and/or a SHOX protein for the preparation of pharmaceutical compositions for the treatment of patients having a SHOX gene disorder. The invention also relates to the use of natriuretic peptides (ANP and BNP) in combination with a SHOX protein for the preparation of pharmaceutical compositions for the treatment of patients with cardiovascular diseases. The invention also comprises an article of manufacture comprising packaging material and a pharmaceutical composition comprising natriuretic peptides.

Abstract: Subject of the present invention is an isolated human nucleic acid molecule encoding polypeptides containing a homeobox domain of sixty amino acids having the amino acid sequence of SEQ ID NO: 1 and having regulating activity on human growth.