Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exome sequencing identifies PDE4D mutations in acrodysostosis.

American journal of human genetics - 6 Apr 2012

Lee Hane, Graham John M, Rimoin David L, Lachman Ralph S, Krejci Pavel, Tompson Stuart W, Nelson Stanley F, Krakow Deborah, Cohn Daniel H

Abstract excerpt

Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D, which encodes cyclic AMP (cAMP)-specific phosphodiesterase 4D, were found to be heterozygous in three of the cases....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Share to Cyclic Nucleotide Phosphodiesterases, Type 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide Phosphodiesterases, Type 4

Share to Dysostoses

Share to Intellectual Disability

Share to Osteochondrodysplasias

Share to Radiography

Source

Open in PubMed Open full text

Identifiers

PMID: 22464252
DOI: 10.1016/j.ajhg.2012.03.004
PMCID: PMC3322224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing identifies PDE4D mutations in acrodysostosis.PMID 22464252Read ↗

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

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

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

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

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.Semantic proximity Read ↗

[Heterozygous variation identified in PDE4D gene caused acrodysostosis].Semantic proximity Read ↗

Reduced PDE4D expression and activity in Acrodysostosis Type 2 patient fibroblasts underlie disease pathologySemantic proximity Read ↗

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

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

Acrodysostosis.Semantic proximity Read ↗

Whole-exome sequencing study of hypospadiasSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.