cGMP-inhibited 3',5'-cyclic phosphodiesterase A
The PDE3A gene encodes an enzyme that regulates the life cycle of cyclic cGMP and cAMP in cells. Mutations cause autosomal dominant brachydactyly with hypertension.
Genetests:
Related Diseases:
References:
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Bilginturan N et al. (1973) Hereditary brachydactyly associated with hypertension.
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Maass PG et al. (2015) PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
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3. |
Meacci E et al. (1992) Molecular cloning and expression of human myocardial cGMP-inhibited cAMP phosphodiesterase.
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4. |
Tang KM et al. (1997) Expression and mutagenesis of the catalytic domain of cGMP-inhibited phosphodiesterase (PDE3) cloned from human platelets.
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5. |
Lefièvre L et al. (2002) Presence of cyclic nucleotide phosphodiesterases PDE1A, existing as a stable complex with calmodulin, and PDE3A in human spermatozoa.
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6. |
Masciarelli S et al. (2004) Cyclic nucleotide phosphodiesterase 3A-deficient mice as a model of female infertility.
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7. |
NCBI article
NCBI 5139
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8. |
OMIM.ORG article
Omim 123805
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9. |
Orphanet article
Orphanet ID 431999
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10. |
Wikipedia article
Wikipedia EN (Phosphodiesterase_3)
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Update: Aug. 14, 2020