![]() Ventricular septal defect (VSD) and atrial septal defect (ASD) are the most common types of CHD and account for 50% of all cases of CHD. This gene has 10,209 bp lengths and contains two exons which encode a protein of 324 amino acids. Nkx2-5, which is a member of Nk home box gene family, locates on chromosome 5q34 and has been preserved during evolution. Mutation in this gene causes atrial and ventricular wall defects, Fallot and tricuspid valve abnormalities. Nkx2-5 also activates synthesis of the other transcription factors such as the members of GATA and MEF2 family. The role of several transcription factors like Nkx2-5, which is the most important one in the progress of mesoderm to the heart tissue, in the processes of cardiac morphogenesis was confirmed. Congenital heart diseases also may be caused in result of defect in different parts of heart. Moreover, CHD is correlated with structural and numeral chromosomal abnormalities (12% - 14%), like 21, 13 and 18 trisomy, turner, etc. Chromosomal and monogenetic abnormalities (about 8%), multifactorial ones (9%) and environmental teratogens (2%) are the main genetic factors for CHD. Complexity in heart development reflects the expression of various genes. Recent genetics studies have shown that many of congenital heart diseases are caused by mutations mainly from a combination of one or more gene interactions with and responses to environment. BackgroundĬongenital heart diseases (CHD) are the most common of all birth defects which contribute substantially to infant mortality, affecting nearly 0.9% of all live births. High Resolution Melt Nkx2-5 Atrial Septal Defect Ventricular Septal Defect 1. It is suggested in further related studies to investigate normal and abnormal cardiac tissue samples of these studied patients and coding genes of the other cardiac transcription factors. To access these videos, click here.The environmental and effective factors on the heart development within embryonic evolution as well as the possibility of the existence of the mutation in coding genes of the other cardiac transcription factors such as GATA4 and TBX5 can be the reasons for the lack of the pathogenic mutation in this study. Finally, Qiagen hosts webinars addressing the use of and updates to this software. Additionally, there are tutorials available for different workflows. For the CLC Genomics Workbench manual, click here. ![]() Getting Helpĭocumentation for the CLC Genomics Workbench is available under the Help tab in the software. Working with CLC Genomics Workbench requires login to the NIH network or VPN connection if remote. This software requires access to a floating license server (three simultaneous users), and so care should be taken to return the license when the software is not actively being used (i.e. You must submit a request through to obtain access to CLC Genomics Workbench. Visualizations can be exported with varying resolutions as the following:.We can import data to CLC Genomics Workbench from the following sequencing instruments: Tracks/annotations from the UCSC Genome Browser and COSMIC database.Things to KnowĪlthough CLC Genomics Workbench is comprehensive, compute resources on a user's local machine may be a limiting factor for analysis. The combination of CLC Genomics Workbench and IPA allows us to go from a gene level of understanding to understanding biological function and regulatory mechanisms. Results from CLC Genomics can be imported to IPA for pathways analysis. Obtain protein structure from PDB and sequences from UniProtĬLC Genomics Workbench and Ingenuity Pathway Analysis (IPA) are both products developed by Qiagen.Download NGS data from the National Center for Biotechnology Information (NCBI) Sequence Read Archive (SRA).Directly interface with Qiagen Ingenuity Pathway Analysis (IPA) to extract biological insight.Predict functional consequence of variant.Determine primer properties (melting point, self annealing, secondary structure). ![]()
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