Associated Papers
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.
Mokhtari A et al.
Clinical Genetics, 2026
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
Gardner OFW et al.
Brain Communications, 2024
Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci.
Baronas JM et al.
Cell Genomics, 2023
Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector.
Özgür-Günes Y et al.
Gene Therapy, 2022
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
Silveira KC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Genetic Determinants of Inherited Endocrine Tumors: Do They Have a Direct Role in Bone Metabolism Regulation and Osteoporosis?
Marini F et al.
Genes, 2021
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C et al.
European Journal of Human Genetics : Ejhg, 2018
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A et al.
Bmc Medical Genetics, 2018
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.
Le Stunff C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Endocrinological and phenotype evaluation in a patient with acrodysostosis.
Ueyama K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Thiele S et al.
European Journal of Endocrinology, 2016
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
Elli FM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.
Mantovani G et al.
Nature Reviews. Endocrinology, 2016
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
Rhayem Y et al.
The Journal of Biological Chemistry, 2015
Impact of kinase activating and inactivating patient mutations on binary PKA interactions.
Röck R et al.
Frontiers in Pharmacology, 2015
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Kaname T et al.
Cellular Signalling, 2014
The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.
Li N et al.
International Journal of Molecular Sciences, 2014
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F et al.
Clinical Genetics, 2013
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.
Nagasaki K et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot C et al.
American Journal of Human Genetics, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H et al.
American Journal of Human Genetics, 2012
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
Linglart A et al.
The New England Journal of Medicine, 2011