ArticleStem cells and development2011
The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
Article in Stem cells and development, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 31 citations in OpenAlex.
- CCHCR1 links P-body proteins to the centrosome and is required for ciliogenesis through interacting with OFD1 and PCM1.Cellular & molecular biology letters · 2025Article
- Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.Molecular cytogenetics · 2025Article
- Article
- Tau tubulin kinase 1 and 2 regulate ciliogenesis and human pluripotent stem cells-derived neural rosettes.Scientific reports · 2023Article
- TP53 promotes lineage commitment of human embryonic stem cells through ciliogenesis and sonic hedgehog signaling.Cell reports · 2022Article
- A ciliopathy complex builds distal appendages to initiate ciliogenesis.The Journal of cell biology · 2021Article
- Dyslexia Candidate Gene and Ciliary Gene Expression Dynamics During Human Neuronal Differentiation.Molecular neurobiology · 2020Article
- A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Iranian journal of public health · 2016Article
- OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models.PloS one · 2016Article
- Update on oral-facial-digital syndromes (OFDS).Cilia · 2016Review
- The pathogenesis of the clinical features of oral-facial-digital syndrome type I.Saudi medical journal · 2015Article
- Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.Disease models & mechanisms · 2015Article
- Neural differentiation from embryonic stem cells in vitro: An overview of the signaling pathways.World journal of stem cells · 2015Review
- Lineage specificity of primary cilia in the mouse embryo.Nature cell biology · 2015Article
- Functional consequences of copy number variants in miscarriage.Molecular cytogenetics · 2015Article
- Primary cilia in stem cells and neural progenitors are regulated by neutral sphingomyelinase 2 and ceramide.Molecular biology of the cell · 2014Article
- CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.Orphanet journal of rare diseases · 2014Article
- The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.Molecular biology of the cell · 2012Article
- Cilia in vertebrate development and disease.Development (Cambridge, England) · 2012Review
- Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.PloS one · 2012Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Oral-Facial-Digital 1 (OFD1) Syndrome is an X-linked developmental disorder caused by mutations in the gene Ofd1. OFD1 syndrome involves malformation of the face, oral cavity, and digits and may be characterized by cystic kidneys and mental retardation. Deletion or missense mutations in Ofd1 also result in loss of primary cilia, a microtubule-based cellular projection that mediates multiple signaling pathways. Ofd1 mutant mice display pleiotropic developmental phenotypes, including neural, skeletal, and cardiac defects. To address how loss of Ofd1 and loss of primary cilia affect early differentiation decisions, we analyzed embryoid bodies (EBs) derived from Ofd1 mutant embryonic stem (ES) cells. Ofd1 mutant EBs do not form primary cilia and display defects in Hedgehog and Wnt signaling. Additionally, we show that ES cells lacking Ofd1 display an increased capacity to differentiate into neurons. Nevertheless, neurons derived from Ofd1 mutant ES cells fail to differentiate into V3 interneurons, a cell type dependent on ciliary function and Hedgehog signaling. Thus, loss of Ofd1 affects ES cell interpretation of developmental cues and reveals that EBs model some aspects of ciliopathies, providing insights into the developmental origins of OFD1 syndrome and functions of cilia.
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What OpenQuestion holds
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.