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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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BCOR-regulated genes in human oculo-facio-cardio-dental syndrome

ABSTRACT: Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by teeth with extremely long roots (radiculomegaly), and craniofacial, eye and cardiac abnormalities. The mutation of the transcriptional co-repressor BCOR has been identified as being responsible for oculo-facio-cardio-dental (OFCD) syndrome. Mesenchymal stem cells (MSCs) is isolated from the root apical papilla of an OFCD patient. Gene expression profiling is performed and compared between mutant MSCs and wild type MSCs. Total RNA were extracted from normal MSCs (MSCWT) and mutant MSCs (MSCO).

ORGANISM(S): Homo sapiens

SUBMITTER: Cun-Yu Wang

PROVIDER: E-GEOD-15214 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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BCOR regulates mesenchymal stem cell function by epigenetic mechanisms.

Fan Zhipeng Z Yamaza Takayoshi T Lee Janice S JS Yu Jinhua J Wang Songlin S Fan Guoping G Shi Songtao S Wang Cun-Yu CY

Nature cell biology 20090705 8

The BCL-6 co-repressor (BCOR) represses gene transcription by interacting with BCL-6 (Refs 1, 2). BCOR mutation is responsible for oculo-facio-cardio-dental (OFCD) syndrome, which is characterized by canine teeth with extremely long roots, congenital cataracts, craniofacial defects and congenital heart disease. Here we show that BCOR mutation increased the osteo-dentinogenic potential of mesenchymal stem cells (MSCs) isolated from a patient with OFCD, providing a molecular explanation for abnorm ...[more]

PMID: 19578371

Similar Datasets

BCOR-regulated genes in human oculo-facio-cardio-dental syndrome

Project description:Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by teeth with extremely long roots (radiculomegaly), and craniofacial, eye and cardiac abnormalities. The mutation of the transcriptional co-repressor BCOR has been identified as being responsible for oculo-facio-cardio-dental (OFCD) syndrome. Mesenchymal stem cells (MSCs) is isolated from the root apical papilla of an OFCD patient. Gene expression profiling is performed and compared between mutant MSCs and wild type MSCs.

2009-07-23 | GSE15214 | GEO

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

Project description:Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3, MLL-PTD and IDH1, we newly identified a clonal somatic mutation in BCOR (BCL6 co-repressor), a gene located in chromosome X. Further analyses showed that BCOR mutations occurred in 11/262 (4.2%) CN-AML cases and represented a substantial fraction (14/82, 17.1%) of CN-AML patients showing the same genetic background as the index patient subjected to WES. BCOR somatic mutations were: i) disruptive events similar to germline BCOR mutations causing the oculo-cranio-facial-dental (OCFD) genetic syndrome; ii) associated with markedly decreased BCOR mRNA levels, absence of full-length BCOR and absent or low expression of a truncated BCOR protein; iii) almost mutually exclusive with NPM1 mutations and frequently associated with DNMT3A and RUNX1 mutations, pointing to a cooperation between these events. Finally, BCOR mutations correlated with poor outcome among a cohort of 160 CN-AML patients (28% versus 66% overall survival at 2 yrs, P=0.024). Our results implicate for the first time BCOR in the pathogenesis of CN-AML without NPM1 mutations. AML samples with normal karyotype were studied. Molecular analyses were performed for BCOR mutations. 12 BCOR wild-type cases and 12 BCOR mutated cases were hybridized to gene expression micro-arrays.

2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress

Homo sapiens

Project description:BCOR-regulated genes in human oculo-facio-cardio-dental syndrome

| PRJNA116457 | ENA

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

2011-12-16 | GSE30442 | GEO

Comparative gene expression analysis of the human dental pulp in deciduous and permanent teeth

Project description:Human deciduous and permanent teeth exhibit different developmental processes, morphologies, histological characteristics and life cycles. In addition their pulp tissues react differently to external stimuli, such as the pulp sensitivity test, dental trauma and pulp therapy materials. These differences are attributable to their genetic backgrounds. Therefore the purpose of this study is to compare the differences of dental pulp in deciduous and permanent teeth. Pulp samples were obtained from permanent premolars (n=6, aged 11-14 years) and deciduous teeth (n=6, aged 11-14 years). Comparative cDNA microarrary analysis revealed several differences in gene expression between the deciduous and permanent pulp tissues. Each GSM record represents a pulp sample pooled from two teeth samples.

2014-08-21 | E-GEOD-51449 | biostudies-arrayexpress

Comparative gene expression analysis of the human dental pulp in deciduous and permanent teeth

2014-08-21 | GSE51449 | GEO

Up-regulation of prolactin receptor in the proximal tubular cells in cardio-renal syndrome model mice

Project description:The precise physiological mechanisms of cardio-renal syndrome are yet to be elucidated. In order to investigate the molecular basis of cardio-renal syndrome, we established a mouse model for cardio-renal syndrome by the combination of abdominal aortic banding and uninephrectomy. Renal function of the cardio-renal syndrome mice was synergistically decreased compared with that of mice that underwent uninephrectomy alone. To investigate the molecules involved in the deterioration renal function in the AbNx mice, we conducted comprehensive gene expression analysis using DNA array by comparing the molecules expressed in the remained kidney of AbNx mice with those of Nx mice.

2012-03-19 | GSE36591 | GEO

Comparative gene expression analysis of dental follicle and periodontal ligament in humans

Project description:The aim of this study was to evaluate and compare the gene expression profiles of dental follicle and periodontal ligament in humans, which can possibly explain their functions of dental follicle and PDL such as eruption coordination and stress resorption. That may apply this information to clinical problem like eruption disturbance and to periodontal tissue engineering. PDL samples were obtained from permanent premolars (n=11) and dental follicle samples were obtained during extraction of supernumerary teeth (n=4). Comparative cDNA microarray analysis revealed several differences in gene expression between permanent PDL and dental follicles.

2014-08-21 | E-GEOD-51342 | biostudies-arrayexpress

Up-regulation of prolactin receptor in the proximal tubular cells in cardio-renal syndrome model mice

2012-03-19 | E-GEOD-36591 | biostudies-arrayexpress

RNA-Seq analysis of neurons derived from induced pluripotent stem cells reprogrammed from dental pulp

Project description:In this study, we investigated its suitability for disease modeling by carrying out gene expression profiling, using RNA-seq, on neurons derived from iPSCs made from dental pulp extracted from deciduous teeth (T-iPSCs) and fibroblasts (F-iPSCs). Comparison of expression profiles of iPSC derived from dental pulp and skin-fibroblast

2013-05-01 | E-GEOD-43143 | biostudies-arrayexpress

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