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Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

ABSTRACT: Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

PROVIDER: PRJNA671182 | ENA |

REPOSITORIES: ENA

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Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

Project description:Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

| PRJNA671181 | ENA

Transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome

2015-01-27 | GSE64034 | GEO

Gabriella Miller Kids First - Novel Cancer Susceptibility in Families (from BASIC3)

Project description:Gabriella Miller Kids First - Novel Cancer Susceptibility in Families (from BASIC3)

| PRJNA559004 | ENA

Transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome

Project description:CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome and Cornelia de Lange syndrome. To identified commonly dysregulated genes in CHOPS syndrome and Cornelia de Lange syndrome, we perfomred side-by-side transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome. In this transcriptome analysis, patient derived skin fibroblasts from two CHOPS syndrome probands, two Cornelia de Lange syndrome probands, and four age-gender-ethnicity matched healthy control subjects were used.The samples used for Human Gene 2.0 arrays are two CHOPs syndrome samples (CDL160 and CDL444), two Cornelia de Lange syndrome samples (CdL006: 7 year-old Caucasian female NIPBL 742_743delCT ;L248TfsX6 and CdL015: 10 year-old Caucasian male NIPBL 2969delG;G990DfsX2), and four age gender matched control samples (GM01652, GM01864, GM02036 and GM03348).

2015-01-27 | E-GEOD-64034 | biostudies-arrayexpress

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

| PRJNA671167 | ENA

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

| PRJNA671166 | ENA

Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

Project description:Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

| PRJNA609367 | ENA

Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

Project description:Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

| PRJNA609368 | ENA

Cornelia-de-Lange syndrome associated mutations cause a DNA damage signalling and repair defect

Project description:Cornelia de Lange Syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a residue substitution in BRD4 associated with a Cornelia de Lange-like Syndrome, that reduces BRD4 binding to acetylated histones. Here we show that, although this mutation reduces BRD4-enhancer interaction in mouse embryonic stem cells, it does not affect transcription. Rather it delays the cell cycle, increased DNA damage signalling, and perturbs regulation of DNA repair in mutant cells. This uncovers a new role for BRD4 in DNA repair pathway choice. Furthermore, we find evidence of a similar increase in DNA damage signalling in cells derived from NIPBL-deficient individuals, suggesting that defective DNA damage signalling and repair is also a feature of typical Cornelia de Lange Syndrome.

2021-03-09 | GSE130659 | GEO

SMC2: a candidate gene associated with Cornelia de Lange Syndrome

Project description:whole-genome aCGH analysis also showed us that the patient carried a 12.01-1M Mb deletion region at chromosome bands 9q31.1-q32 (105,190,105-117,195,154). The deleted region encompasses 22 genes including SMC2 Two-condition Samples, Cornelia de Lange Syndrome vs. Normal cells.

2015-01-23 | E-GEOD-54354 | biostudies-arrayexpress

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