ALLMedicine™ Acrodysostosis Center
Research & Reviews 20 results
Pharmacological Reviews; Ramms DJ, Raimondi F et. al.
Oct 20th, 2021 - Many of the fundamental concepts of signal transduction and kinase activity are attributed to the discovery and crystallization of cAMP-dependent protein kinase, or protein kinase A. PKA is one of the best-studied kinases in human biology, with em...
Gene Therapy; Özgür-Günes Y, Le Stunff C et. al.
Oct 3rd, 2021 - Acrodysostosis is a rare skeletal dysplasia caused by loss-of-function mutations in the regulatory subunit of protein kinase A (PRKAR1A). In a knock-in mouse model (PRKAR1Awt/mut) expressing one copy of the recurrent R368X mutation, we tested the ...
American Journal of Medical Genetics. Part A; Nguyen DB, Khirani S et. al.
Apr 29th, 2021 - Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with s...
BMC Endocrine Disorders; Petraitytė G, Šiaurytė K et. al.
Apr 17th, 2021 - Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with or without hormonal resistance. Pathogenic variants in the PRKAR1A and PDE4D genes are known genetic causes of this condition. The latter gene variants are mor...
Foot & Ankle Specialist; Mansur H, Maranho DA
Nov 21st, 2020 - Level V: Case report.