Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3-Reference-Cited by-同舟云学术

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Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

Published:2017-07-17 Issue:20 Volume:26 Page:3883-3894
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Briet Claire,Pereda Arrate,Le Stunff Catherine,Motte Emmanuelle,de Dios Garcia-Diaz Juan,de Nanclares Guiomar Perez,Dumaz Nicolas,Silve Caroline

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/20/3883/20627483/ddx271.pdf

Reference53 articles.

1. [Acrodysostosis];Presse Med,1968

2. Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation;Am. J. Dis. Child,1971

3. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance;N. Engl J. Med,2011

4. Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis;Am. J. Hum. Genet,2012

5. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance;J. Clin. Endocrinol. Metab,2012

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?;Brain Communications;2024

2. Overexpression of Pde4d in rat granulosa cells inhibits maturation and atresia of antral follicles to induce polycystic ovary;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-01

3. Impaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis;Frontiers in Molecular Biosciences;2023-09-21

4. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis;Journal of Endocrinological Investigation;2023-02-07

5. Protein Kinase A Downregulation Delays the Development and Progression of Polycystic Kidney Disease;Journal of the American Society of Nephrology;2022-06

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