ArticlePloS one2013
Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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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
23 citing papers in PubMed, 56 citations in OpenAlex.
- Functional Variants of the RAD51 Gene Contribute to Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population.Orthodontics & craniofacial research · 2026Article
- Article
- Alterations of senescence-associated markers in patients with non-syndromic cleft lip and palate.Scientific reports · 2024Article
- Unveiling dysregulated lncRNAs and networks in non-syndromic cleft lip with or without cleft palate pathogenesis.Scientific reports · 2024Article
- Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.Human molecular genetics · 2023Review
- Article
- Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients.Pediatric reports · 2021Article
- Alteration of DNA Damage Response Causes Cleft Palate.Frontiers in physiology · 2021Article
- Exploring the Molecular Mechanism of lncRNA-miRNA-mRNA Networks in Non-Syndromic Cleft Lip with or without Cleft Palate.International journal of general medicine · 2021Article
- Diabetes, Oxidative Stress, and DNA Damage Modulate Cranial Neural Crest Cell Development and the Phenotype Variability of Craniofacial Disorders.Frontiers in cell and developmental biology · 2021Review
- Identification of novel susceptibility loci for non-syndromic cleft lip with or without cleft palate.Journal of cellular and molecular medicine · 2020Article
- Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.Human mutation · 2020Article
- An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate.BMC medical genomics · 2020Article
- Nonsyndromic Oral Cleft in First-Degree Relatives of Patients with Acute Lymphoblastic Leukemia.Dentistry journal · 2020Article
- Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology.European journal of human genetics : EJHG · 2019Article
- Network-based identification of critical regulators as putative drivers of human cleft lip.BMC medical genomics · 2019Article
- Dental genetics in Brazil: Where we are.Molecular genetics & genomic medicine · 2018Article
- BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.Birth defects research · 2018Article
- BRCA1 and BRCA2 tumor suppressors in neural crest cells are essential for craniofacial bone development.PLoS genetics · 2018Article
- EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.Human molecular genetics · 2017Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2)-5.02×10(-9)). This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.
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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.