ArticleThe Journal of clinical investigation2013
Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 40 citations in OpenAlex.
- Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Review
- Hepatic CB1 receptor signaling triggers GMetabolism: clinical and experimental · 2025Article
- The role of miRNAs as biomarkers in heterotopic ossification.EFORT open reviews · 2024Review
- Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?Endocrine · 2021Review
- Article
- What Do Animal Models Teach Us About Congenital Craniofacial Defects?Advances in experimental medicine and biology · 2020Review
- Silencing of SPARC represses heterotopic ossification via inhibition of the MAPK signaling pathway.Bioscience reports · 2019Article
- Analysis of the Progeny of Sibling Matings Reveals Regulatory Variation Impacting the Transcriptome of Immune Cells in Commercial Chickens.Frontiers in genetics · 2019Article
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- Review
- GNAS mutations and heterotopic ossification.Bone · 2018Review
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Heterotrimeric G proteins in the control of parathyroid hormone actions.Journal of molecular endocrinology · 2017Review
- Gsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways.Scientific reports · 2017Article
- Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Nature reviews. Endocrinology · 2016Review
- GNAS Spectrum of Disorders.Current osteoporosis reports · 2015Review
- GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Human mutation · 2015Review
- Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.The application of clinical genetics · 2015Review
- Progressive Osseous Heteroplasia is not an Autosomal Dominant Trait but Reflects Superimposed Mosaicism in DifferentIndian dermatology online journalArticle
- Progressive Osseous Heteroplasia: A Rare Case Report.Indian dermatology online journalArticle
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Progressive osseous heteroplasia (POH) is a rare developmental disorder of heterotopic ossification (HO) caused by heterozygous inactivating germline mutations in the paternal allele of the GNAS gene. Interestingly, POH lesions have a bewildering mosaic distribution. Using clinical, radiographic, and photographic documentation, we found that most of the 12 individuals studied had a lesional bias toward one side or the other, even showing exclusive sidedness. Most strikingly, all had a dermomyotomal distribution of HO lesions. We hypothesized that somatic mutations in a progenitor cell of somitic origin may act on a background of germline haploinsufficiency to cause loss of heterozygosity at the GNAS locus and lead to the unilateral distribution of POH lesions. Taking advantage of the chick system, we examined our hypothesis by mimicking loss of heterozygosity of GNAS expression using dominant-negative GNAS that was introduced into a subset of chick somites, the progenitors that give rise to dermis and muscle. We observed rapid ectopic cartilage and bone induction at the axial and lateral positions in a unilateral distribution corresponding to the injected somites, which suggests that blocking GNAS activity in a targeted population of progenitor cells can lead to mosaic ectopic ossification reminiscent of that seen in POH.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.