ArticlePloS one2012
Fishing the molecular bases of Treacher Collins syndrome.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 46 citations in OpenAlex.
- Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.Orphanet journal of rare diseases · 2025Article
- Untangling Zebrafish Genetic Annotation: Addressing Complexities and Nomenclature Issues in Orthologous Evaluation of TCOF1 and NOLC1.Journal of molecular evolution · 2024Article
- mEpigenetics · 2022Article
- Re-focusing on Agnathia-Otocephaly complex.Clinical oral investigations · 2021Review
- Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.Molecular genetics & genomic medicine · 2021Article
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
- Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.Journal of developmental biology · 2020Review
- Nucleolar stress inBiology open · 2020Article
- [Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2019Review
- A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration.Stem cells and development · 2019Article
- Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.Experimental and therapeutic medicine · 2018Article
- Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.Nature · 2018Article
- Zebrafish models of orofacial clefts.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.BMC developmental biology · 2016Article
- Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.Cell death & disease · 2016Article
- Ribosomopathies: how a common root can cause a tree of pathologies.Disease models & mechanisms · 2015Review
- Ribosomopathies: Global process, tissue specific defects.Rare diseases (Austin, Tex.) · 2015Review
- Zebrafish Craniofacial Development: A Window into Early Patterning.Current topics in developmental biology · 2015Review
- A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2013Article
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Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases. The knowledge about the molecular mechanisms responsible for this syndrome is relatively scant, probably due to the difficulty of reproducing the pathology in experimental animals. Zebrafish is an emerging model for human disease studies, and we therefore assessed it as a model for studying TCS. We identified in silico the putative zebrafish TCOF1 ortholog and cloned the corresponding cDNA. The derived polypeptide shares the main structural domains found in mammals and amphibians. Tcof1 expression is restricted to the anterior-most regions of zebrafish developing embryos, similar to what happens in mouse embryos. Tcof1 loss-of-function resulted in fish showing phenotypes similar to those observed in TCS patients, and enabled a further characterization of the mechanisms underlying craniofacial malformation. Besides, we initiated the identification of potential molecular targets of treacle in zebrafish. We found that Tcof1 loss-of-function led to a decrease in the expression of cellular proliferation and craniofacial development. Together, results presented here strongly suggest that it is possible to achieve fish with TCS-like phenotype by knocking down the expression of the TCOF1 ortholog in zebrafish. This experimental condition may facilitate the study of the disease etiology during embryonic development.
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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.