The Database Core (Core B) has served this Program in the past as a repository for tracking samples (DNA, cell lines, tissue samples etc.) and genetic information including mutation screening results and genotyping data inclusive of CNV data. The database has been expanded to include clinical information on our cohort of over 1200 CdLS probands and family members. This resource has allowed for a nimble approach to genotpye-phenotype studies as well as to identify cohorts for screening of novel candidate genes. With the expansion over the past few years of genome-wide data from Drosophila, zebrafish, mouse and human cell lines a need to establish a secure and easily accessible database that integrates all of these variable genomic datasets woud be invaluable to the next stages of experimentation that is being proposed in the continuation of this Program Project. The goal of the Database and Resource Sharing Core is to improve and maintain the existing genetic and clinical database of CdLS probands and family members and to: a) Expand our knowledge of the extent and type of correlations between structural abnormalities and molecular data by integrating:!) phenotypic data, 2)genotype data generated in Project 1 including: gene mutations and variants, genome-wide SNP, CNV, ChIP, expression and epigenetic imprint data, 3) Mouse and Zebrafish data generated as part of Project 11 including: genome-wide expression data, targeted gene expression data, organ/tissue specific expression data, phenotypic data from knock-out and conditional knock out mouse models as well as from RNAi Zebrafish models and 4) Drosophila data generated as part of Project 111 including: genome-wide tissue-specific expression and ChIP data, functional targeted gene expression data and phenotypic data. b) Provide a communication vehicle for the exchange and management of clinical and molecular data as well as the resources generated in the three component projects of this application. c) Expand a secure web-based access to the clinical and laboratory database, including access to listings of resources to be shared with outside investigators.
The Database Core will evolve into an on-line database that will allow the 3 Project Leaders and their labs to enter, read and analyze information as it is generated at all centers. This will facilitate the discovery process and allow for an enriched integrative dataset that will complement each individual project and allow for timely review of progress. Once built and with the appropriate privacy and subject protection safeguards in place, it is anticipated that this database will be made available as a resource to the research community at large.
|Muto, Akihiko; Ikeda, Shingo; Lopez-Burks, Martha E et al. (2014) Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet 10:e1004671|
|Zuin, Jessica; Franke, Vedran; van Ijcken, Wilfred F J et al. (2014) A cohesin-independent role for NIPBL at promoters provides insights in CdLS. PLoS Genet 10:e1004153|
|Krantz, Ian D (2014) Cohesin embraces new phenotypes. Nat Genet 46:1157-8|
|Visnes, T; Giordano, F; Kuznetsova, A et al. (2014) Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I. Chromosoma 123:239-52|
|Dorsett, Dale; Kassis, Judith A (2014) Checks and balances between cohesin and polycomb in gene silencing and transcription. Curr Biol 24:R535-9|
|Kaiser, Frank J; Ansari, Morad; Braunholz, Diana et al. (2014) Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23:2888-900|
|Slavin, Thomas P; Krantz, Ian (2013) Response to "germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures" by Mariani et al. Am J Med Genet A 161A:1827|
|Jyonouchi, Soma; Orange, Jordan; Sullivan, Kathleen E et al. (2013) Immunologic features of Cornelia de Lange syndrome. Pediatrics 132:e484-9|
|Mannini, Linda; Cucco, Francesco; Quarantotti, Valentina et al. (2013) Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 34:1589-96|
|Schaaf, Cheri A; Misulovin, Ziva; Gause, Maria et al. (2013) Cohesin and polycomb proteins functionally interact to control transcription at silenced and active genes. PLoS Genet 9:e1003560|
Showing the most recent 10 out of 47 publications