Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Item
http://www.wikidata.org/entity/Q43640848
RACK1 and β-arrestin2 attenuate dimerization of PDE4 cAMP phosphodiesterase PDE4D5Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutationsThe first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosisEngineered stabilization and structural analysis of the autoinhibited conformation of PDE4TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.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.Genetics of Short Stature.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.The Past, Present, and Future of Phosphodiesterase-4 Modulation for Age-Induced Memory Loss.Multiple Behavior Phenotypes of the Fragile-X Syndrome Mouse Model Respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D).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.Memory enhancing effects of BPN14770, an allosteric inhibitor of phosphodiesterase-4D, in wild-type and humanized mice
P2860

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Item
http://www.wikidata.org/entity/Q43640848
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2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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name
Different mutations in PDE4D a ...... orders with mirror phenotypes.
@en
Different mutations in PDE4D a ...... orders with mirror phenotypes.
@nl
type
label
Different mutations in PDE4D a ...... orders with mirror phenotypes.
@en
Different mutations in PDE4D a ...... orders with mirror phenotypes.
@nl
prefLabel
Different mutations in PDE4D a ...... orders with mirror phenotypes.
@en
Different mutations in PDE4D a ...... orders with mirror phenotypes.
@nl
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Different mutations in PDE4D a ...... sorders with mirror phenotypes
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P2093
P2860
P304
P31
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10.1136/JMEDGENET-2013-101937
P407
P433
P478
P50
P577
P5875
P698