Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

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http://www.wikidata.org/entity/Q50740659
Structural basis for the design of selective phosphodiesterase 4B inhibitorsPhosphodiesterase-4 (PDE4) molecular pharmacology and Alzheimer's diseaseEngineered stabilization and structural analysis of the autoinhibited conformation of PDE4Brachydactyly E: isolated or as a feature of a syndromeAcrodysostosis syndromes.Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.Multiple Behavior Phenotypes of the Fragile-X Syndrome Mouse Model Respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D).Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.A negative allosteric modulator of PDE4D enhances learning after traumatic brain injury.The PDE4 cAMP-Specific Phosphodiesterases: Targets for Drugs with Antidepressant and Memory-Enhancing Action.Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].Memory enhancing effects of BPN14770, an allosteric inhibitor of phosphodiesterase-4D, in wild-type and humanized mice
P2860

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Item
http://www.wikidata.org/entity/Q50740659
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2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
@en
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
@nl
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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
@en
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
@nl
prefLabel
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
@en
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698