Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
about
Three-stage quality control strategies for DNA re-sequencing dataStructural basis for the design of selective phosphodiesterase 4B inhibitorsAdvances in Skeletal Dysplasia GeneticsHuman phosphodiesterase 4D7 (PDE4D7) expression is increased in TMPRSS2-ERG-positive primary prostate cancer and independently adds to a reduced risk of post-surgical disease progressionRACK1 and β-arrestin2 attenuate dimerization of PDE4 cAMP phosphodiesterase PDE4D5Combining Hi-C data with phylogenetic correlation to predict the target genes of distal regulatory elements in human genome.Epidemiology and Diagnosis of Hypoparathyroidism.The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosisThe promise of whole-exome sequencing in medical genetics.PDE3A mutations cause autosomal dominant hypertension with brachydactyly.Pseudohypoparathyroidism: one gene, several syndromes.Phosphodiesterase-4 (PDE4) molecular pharmacology and Alzheimer's diseaseMutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.Engineered stabilization and structural analysis of the autoinhibited conformation of PDE4Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Brachydactyly E: isolated or as a feature of a syndromeAcrodysostosis syndromes.Clinical and molecular genetics of the phosphodiesterases (PDEs).GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.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.Heterotrimeric G proteins in the control of parathyroid hormone actions.Human PDE4D isoform composition is deregulated in primary prostate cancer and indicative for disease progression and development of distant metastases.Endocrinological and phenotype evaluation in a patient with acrodysostosis.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.Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.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.Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.Novel mutations of the PRKAR1A gene in patients with acrodysostosis.Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.Memory enhancing effects of BPN14770, an allosteric inhibitor of phosphodiesterase-4D, in wild-type and humanized mice
P2860
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P2860
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
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2012 nî lūn-bûn
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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2012 թվականի ապրիլին հրատարակված գիտական հոդված
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@ast
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@en
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@nl
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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@ast
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@en
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@nl
P2093
P2860
P50
P1476
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
@en
P2093
Alice Duncombe
Anne-Marie Guerrot
Avinash Abhyankar
Caroline Thalassinos
Céline Klein
Esther Kinning
Genevieve Baujat
Patrick Nitschke
Philippe Flahaut
P2860
P356
10.1016/J.AJHG.2012.03.003
P407
P50
P577
2012-04-06T00:00:00Z