This dataset contains 99 genes and comes from Catalina Betancur's review published in Brain Research in 2011 (Betancur, 2011). Different genetic and genomic disorders in which ASDs have been described as one of the possible manifestations were collected. Genes, CNVs and linkage regions associated with autism were searched from literature and curated. Six categories of literatures were included in our collection: genome-wide association studies, expression profiling, genome-wide CNV studies, linkage analysis, low-scale genetic association studies and other low-scale gene studies. Representative meta-data about key clinical and demographic characteristics was collected. ... [Information of the supplier]
In September, 2001, the National Institute of Diabetes, Digestive, and Kidney Diseases (NIDDK) convened a working group of its National Advisory Council to develop a strategic plan for Stem Cells and Developmental Biology. The working group made several recommendations, with the overall goals of providing new strategies for repairing or replacing damaged organs and generating new insights into pathologic processes underlying developmental defects and disease. There is the need for a more thorough understanding of organogenesis so that tissue degeneration and congenital malformations might be prevented and treated. The goal of GUDMAP is a fundamental description of the developing kidney and GU tract. The panel recommended that the following three objectives be combined to form the GUDMAP. a) High throughput in situ hybridization analyses to define the expression pattern of genes expressed in the developing kidney and GU tract, b) High resolution gene expression analyses to define gene expression during developmental time, the overlap in gene expression patterns, and the correlation between boundaries of gene expression and boundaries of anatomic or functional domains and c) Development of a database to house and annotate the above data and to provide rapid access of this data to the entire research community. Microarray analyses and the generation of murine strains with genetic markers are also goals of GUDMAP which serve to bolster the overall aim of defining molecular and cellular anatomy through developmental time. ... [Information of the supplier, modified]
