ReviewCold Spring Harbor perspectives in biology2017
Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.
Review in Cold Spring Harbor perspectives in biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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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Who cites it
34 citing papers in PubMed, 47 citations in OpenAlex.
- Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell-cell junctions during neural tube formation.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Centriolar protein PIBF1 is required for craniofacial and forebrain development.Developmental biology · 2025Article
- TWIST1 Modulates Cilia Length, Endocytic Vesicle Dynamics, and Cell-Cell Junctions during Neural Tube Morphogenesis.bioRxiv : the preprint server for biology · 2025Article
- Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy.Pediatric radiology · 2025Article
- Loss of intraflagellar transport 140 in osteoblasts cripples bone fracture healing.Fundamental research · 2025Article
- Disruption of distal appendage protein CEP164 causes skeletal malformation in mice.Biochemical and biophysical research communications · 2024Article
- Transcriptome-wide association identifiesiMeta · 2024Article
- Actin cytoskeletal regulation of ciliogenesis in development and disease.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Review
- Molecular and structural perspectives on protein trafficking to the primary cilium membrane.Biochemical Society transactions · 2024Review
- Characteristic craniofacial defects associated with a novel USP9X truncation mutation.Human genome variation · 2024Article
- Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.International journal of molecular sciences · 2023Review
- Identification of a heterogeneous and dynamic ciliome during embryonic development and cell differentiation.Development (Cambridge, England) · 2023Article
- Canonical Wnt signaling regulates soft palate development by mediating ciliary homeostasis.Development (Cambridge, England) · 2023Article
- Gene-alcohol interactions in birth defects.Current topics in developmental biology · 2023Article
- Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis ofInternational journal of molecular sciences · 2022Article
- Role of Primary Cilia in Bone and Cartilage.Journal of dental research · 2022Article
- Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.European journal of human genetics : EJHG · 2022Article
- Editorial: Cellular Mechanisms During Normal and Abnormal Craniofacial Development.Frontiers in cell and developmental biology · 2022Article
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that ∼30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed. Herein, we reevaluate public disease databases, report several new craniofacial ciliopathies, and propose several "predicted" craniofacial ciliopathies. Furthermore, we discuss why the craniofacial complex is so sensitive to ciliopathic dysfunction, addressing tissue-specific functions of the cilium as well as its role in signal transduction relevant to craniofacial development. As a whole, these analyses suggest a characteristic facial phenotype associated with craniofacial ciliopathies that can perhaps be used for rapid discovery and diagnosis of similar disorders in the future.
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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.