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Article

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

The Journal of clinical endocrinology and metabolism - 1 Sept 2012

Nagasaki Keisuke, Iida Tomoko, Sato Hidetoshi, Ogawa Yohei, Kikuchi Toru, Saitoh Akihiko, Ogata Tsutomu, Fukami Maki

Abstract excerpt

CONTEXT: Acrodysostosis is a rare autosomal dominant disorder characterized by short stature, peculiar facial appearance with nasal hypoplasia, and short metacarpotarsals and phalanges with cone-shaped epiphyses. Recently, mutations of PRKAR1A and PDE4D downstream of GNAS on the cAMP-mediated G protein-coupled receptor (GPCR) signaling cascade have been identified in acrodysostosis with and without hormone...

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Source

Identifiers

PMID: 22723333
DOI: 10.1210/jc.2012-1369

Genes

GNAS
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.PMID 22723333Read ↗

[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].Semantic proximity Read ↗

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.Semantic proximity Read ↗

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.Semantic proximity Read ↗

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.Semantic proximity Read ↗

Acrodysostosis.Semantic proximity Read ↗

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney ComplexSemantic proximity Read ↗

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.Semantic proximity Read ↗

Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.Semantic proximity Read ↗

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.Semantic proximity Read ↗

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.Semantic proximity Read ↗

Acrodysostosis type 1: mechanisms explaining PRKAR1A mutation mediated dysregulation of cAMP-PKA signalling.Semantic proximity Read ↗

Exome sequencing identifies PDE4D mutations in acrodysostosis.Semantic proximity Read ↗

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