ReviewOrganogenesis2014
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.
Review in Organogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 86 citations in OpenAlex.
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in theMolecular syndromology · 2025Article
- TMEM138: From Biological Functions to Diseases.Physiological research · 2025Review
- Loss ofCells · 2024Article
- Skeletal ciliopathy: pathogenesis and related signaling pathways.Molecular and cellular biochemistry · 2024Review
- Patient-derived and gene-edited pluripotent stem cells lackingFrontiers in cell and developmental biology · 2024Article
- Rediscovering Primary Cilia in Pancreatic Islets.Diabetes & metabolism journal · 2023Review
- Review
- Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients withGenes · 2021Article
- Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.Frontiers in genetics · 2021Article
- Epb41l5 interacts with Iqcb1 and regulates ciliary function in zebrafish embryos.Journal of cell science · 2020Article
- Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.The Yale journal of biology and medicine · 2019Review
- The FrogFrontiers in physiology · 2019Article
- Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Nephronophthisis: A review of genotype-phenotype correlation.Nephrology (Carlton, Vic.) · 2018Review
- Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice.Cell death & disease · 2018Article
- Quantitative Comparison of Primary Cilia Marker Expression and Length in the Mouse Brain.Journal of molecular neuroscience : MN · 2018Article
- Intraflagellar transporter protein (IFT27), an IFT25 binding partner, is essential for male fertility and spermiogenesis in mice.Developmental biology · 2017Article
- In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Cell reports · 2017Article
- An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Scientific reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.
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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.