Bioinformatic Analysis of Msx1 and Msx2 Involved in Craniofacial Development

Dai, Jiewen; Mou, Zhifang; Shen, Shunyao; Dong, Yuefu; Shen, Steve Guofang

doi:10.1097/scs.0000000000000373

Cited by 18 publications

(18 citation statements)

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“…These findings clearly guide us to perform further functional studies in the future treatment. [ 9 ] In our findings, a female patient had an exceedingly rare combination with achondroplasia and multiple-suture CS. Despite these specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found.…”

Section: Introductionmentioning

confidence: 58%

“…However, there is no systematic evaluation for these MSX gene-related factors. [ 9 ] In bioinformatic analysis for MSX genes by combining GeneDecks, DAVID, and STRING database, results showed that there were numerous genes related to MSX1, MSX2, M-TWIST, T-TWIST genes, IRF6, TP63, Dlx2, Dlx5, Pax3, Pax9, Bmp4, Tgf-beta2, and Tgf-beta3 that have been demonstrated to be involved in CL/P. FGFR2, FGFR1, FGFR3, and TWIST1 that were involved in CS.…”

Section: Introductionmentioning

confidence: 99%

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Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

et al. 2015

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Background:Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a larger number of cases can be attributed to mutations outside this region of the protein.Aims:To find out the FGFR1, FGFR2, FGFR3 and FGFR4 gene in craniosynostosis syndrome.Settings and Design:A hospital based prospective study.Materials and Methods:Prospective analysis of clinical records of patients registered in CS clinic from December 2007 to January 2015 was done in patients between 4 months to 13 years of age. We have performed genetic findings in a three generation Indian family with Craniosynostosis syndrome.Results:We report for the first time the clinical and genetic findings in a three generation Indian family with Craniosynostosis syndrome caused by a heterozygous missense mutation, Thr 392 Thr and ser 311 try, located in the IgII domain of FGFR2. FGFR 3 and 4 gene basis syndrome was eponymously named. Genetic analysis demonstrated that 51/56 families to be unrelated. In FGFR3 gene 10/TM location of 1172 the nucleotide changes C>A, Ala 391 Glu 19/56 and Exon-19, 5q35.2 at conserved linker region the changes occurred pro 246 Arg in 25/56 families.Conclusions:Independent genetic origins, but phenotypic similarities in the 51 families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.

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Section: Introductionmentioning

confidence: 58%

Section: Introductionmentioning

confidence: 99%

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

et al. 2015

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“…Their blood supplies also differ (Vandevska-Radunovic et al 1994). During the growth and development of the jaw, the maxilla and mandible are differentially expressed for certain genes; DLX1/DLX2 mainly regulates the development of the maxilla, whereas MSX1 and GSC mainly regulate the development of the mandible (Somma et al 2011, Dai et al 2014).…”

Section: Discussionmentioning

confidence: 99%

Micro‐CT analysis of chronic apical periodontitis induced by several specific pathogens

et al. 2019

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Aim To conduct three‐dimensional micro‐CT analysis of bone destruction, periapical sclerotic changes and inflammatory root resorption (IRR) to compare the differences between Enterococcus faecalis (Ef)‐ and Porphyromonas gingivalis (Pg)‐induced chronic apical periodontitis (CAP). Methodology Mono‐species bacteria‐induced CAP was established in the first and second molars of the right maxilla and mandible of male Sprague–Dawley rats. Fifteen animals were divided into three groups with five rats in each group: control group, Ef‐CAP group and Pg‐CAP group. The maxilla and mandible were harvested and then scanned by micro‐CT. Alveolar bone destruction was evaluated by measuring the volume of alveolar bone resorption, bone volume fraction (BV/TV), trabecular thickness (Tb. Th), trabecular number (Tb. N) and trabecular spacing (Tb. Sp). The results were analysed using one‐way analysis of variance and Fisher's least significant difference methods (LSD). The sclerotic changes in the periapical bone were graded and the IRR indexes were scored. The data were analysed using the chi‐square test. Results The alveolar bone resorption volume of the Pg‐CAP group was significantly larger than that of the Ef‐CAP group (P < 0.01). In the maxilla, both Pg‐CAP and Ef‐CAP groups had a significant decrease in BV/TV and increase in Tb. Sp (P < 0.01) with the more significant changes of trabecular bone in the Pg‐CAP group. A significant reduction of Tb. N was only found in the Pg‐CAP group (P < 0.05). There was no significant change in Tb. Th in either group (P > 0.05). In the mandible, except for an increase in Tb. Sp in the Pg‐CAP group (P < 0.05), there was no significant change in BV/TV, Tb. Th or Tb. N (P > 0.05). No obvious sclerotic change was observed. IRR was detected in significantly more root surfaces in the Pg‐CAP group (240 surfaces, 60%) than those in the Ef‐CAP group (178 surfaces, 44.5%) (P < 0.001). The IRR extension was also significantly more advanced in the Pg‐CAP group (P < 0.05). Conclusions Pg‐CAP caused more substantial alveolar bone destruction and IRR than Ef‐CAP. The maxilla was more susceptible to CAP in terms of microstructural changes of trabecular bone than the mandible. Tb. Sp was the most sensitive index for evaluating the residual alveolar bone of CAP.

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“…In a previous study related to craniofacial development, network analysis of two genes MSX1 and MSX2 revealed several other genes of interest [ 6 ]. MSX1 and MSX2 were found to be related to IRF6, TP63, DLX2, DLX5, PAX3, PAX9, BMP4, TAB2, and TAB3.…”

Section: Resultsmentioning

confidence: 99%

“…Such analyses were made possible by the availability of curated protein-protein interaction (PPI) databases such as STRING [ 1 ], MINT [ 2 ], BioGRID [ 3 ], HPRD [ 4 ] and DIP [ 5 ]. Network analysis using previously published PPI data has been carried out extensively, some examples of which are the study of craniofacial development [ 6 ], Hutchinson-Gilford progeria syndrome [ 7 ], glioblastoma [ 8 ] and general drug discovery [ 9 ]. Recognizing the capability of network based studies, there have been focused efforts to determine disease specific interactomes using high-throughput technology such as yeast 2-hybrid (Y2H) and to annotate proteins and even make inferences about functions and relations to new diseases.…”

Section: Introductionmentioning

confidence: 99%

LENS: web-based lens for enrichment and network studies of human proteins

Handen

Ganapathiraju

2015

BMC Med Genomics

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BackgroundNetwork analysis is a common approach for the study of genetic view of diseases and biological pathways. Typically, when a set of genes are identified to be of interest in relation to a disease, say through a genome wide association study (GWAS) or a different gene expression study, these genes are typically analyzed in the context of their protein-protein interaction (PPI) networks. Further analysis is carried out to compute the enrichment of known pathways and disease-associations in the network. Having tools for such analysis at the fingertips of biologists without the requirement for computer programming or curation of data would accelerate the characterization of genes of interest. Currently available tools do not integrate network and enrichment analysis and their visualizations, and most of them present results in formats not most conducive to human cognition.ResultsWe developed the tool Lens for Enrichment and Network Studies of human proteins (LENS) that performs network and pathway and diseases enrichment analyses on genes of interest to users. The tool creates a visualization of the network, provides easy to read statistics on network connectivity, and displays Venn diagrams with statistical significance values of the network's association with drugs, diseases, pathways, and GWASs. We used the tool to analyze gene sets related to craniofacial development, autism, and schizophrenia.ConclusionLENS is a web-based tool that does not require and download or plugins to use. The tool is free and does not require login for use, and is available at http://severus.dbmi.pitt.edu/LENS.

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Bioinformatic Analysis of Msx1 and Msx2 Involved in Craniofacial Development

Cited by 18 publications

References 36 publications

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

Micro‐CT analysis of chronic apical periodontitis induced by several specific pathogens

LENS: web-based lens for enrichment and network studies of human proteins

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