ArticlePLoS genetics2016
Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint development and homeostasis in response to jaw loading.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Article
- EVC protein regulates Sonic hedgehog signaling during human intervertebral disc development and degeneration.iScience · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments.Frontiers in veterinary science · 2025Article
- Case Report: A novel compound heterozygosity of theFrontiers in pediatrics · 2025Article
- Skeletal ciliopathy: pathogenesis and related signaling pathways.Molecular and cellular biochemistry · 2024Review
- Identification of Compound HeterozygousGenes · 2023Article
- Establishing an objective clinical spectrum, genotype-phenotype correlations, andGenetics in medicine open · 2023Review
- New developments in the biology of fibroblast growth factors.WIREs mechanisms of disease · 2022Review
- The Posterior Part Influences the Anterior Part of the Mouse Cranial Base Development.JBMR plus · 2022Article
- Elevated WNT signaling and compromised Hedgehog signaling due toFrontiers in dental medicine · 2022Article
- Ellis-van Creveld syndrome novel pathogenic variant in theClinical case reports · 2021Article
- Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.Nature genetics · 2021Article
- Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.Journal of developmental biology · 2020Review
- Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.The Journal of clinical investigation · 2020Article
- A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.Frontiers in physiology · 2018Article
- Achondroplasia: Development, pathogenesis, and therapy.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF) signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome.
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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.