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ALLMedicine™ Acrodysostosis Center

Research & Reviews  20 results

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and T...
https://doi.org/10.1124/pharmrev.120.000269
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...

Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-...
https://doi.org/10.1038/s41434-021-00286-2
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 ...

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
https://doi.org/10.1002/ajmg.a.62236
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...

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051037
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...

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