Marfan+Syndrome+Materials+and+Methods

Materials and Methods U.S. National Library of Medicine Accessed between February and May, 2016.

Search Entry: FBN1 Used for basic information of the FBN1 gene and affiliated mutations. https://ghr.nlm.nih.gov/gene/FBN1

Search Entry: Marfan Syndrome Used for general information of MFS and it's various phenotypic presentations. https://ghr.nlm.nih.gov/condition/marfan-syndrome

HGDP Selection Browser Search entry: FBN1 Accessed between February and May, 2016. Used for detailed information regarding SNP's and geographical distribution. http://hgdp.uchicago.edu/cgi-bin/gbrowse/HGDP/

Protein Data Bank Search Entry: FBN1 <span style="font-family: Georgia,serif;">Accessed between February and May, 2016. <span style="font-family: Georgia,serif;">Used to create a 3D image of the fibrillin-1 protein. <span style="font-family: Georgia,serif;">http://www.rcsb.org/pdb/explore/explore.do?structureId=2M74

<span style="color: #bc0856; font-family: Georgia,serif; font-size: 130%;">Comparative Toxicogenomics Database <span style="font-family: Georgia,serif;">Search Entry: FBN1 <span style="font-family: Georgia,serif;">Accessed between March and May, 2016. <span style="font-family: Georgia,serif;">Used to find related chemical-gene interactions of the FBN1 gene, biochemical pathways that are affected, as well as other genes involved in the same disease. <span style="font-family: Georgia,serif;">http://ctdbase.org/detail.go?type=gene&acc=2200

<span style="color: #bc0856; font-family: Georgia,serif; font-size: 130%;">Ensembl <span style="font-family: Georgia,serif;">Search Entry: FBN1 <span style="font-family: Georgia,serif;">Accessed between March and May, 2016. <span style="font-family: Georgia,serif;">Used to access a wealth of information on comparing FBN1 to other species, the activity of the gene in the human body, and variants associated with the gene. <span style="font-family: Georgia,serif;">http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000166147;r=15:48408306-48645849

<span style="color: #bc0856; font-family: Georgia,serif; font-size: 130%;">Review Article <span style="font-family: Georgia,serif;">"Marfan Syndrome: From Gene to Therapy" <span style="font-family: Georgia,serif;">Used for basic information of MFS, other diseases resulting from mutations in FBN1 and possible treatment plans. <span style="font-family: Georgia,serif;">https://www.researchgate.net/publication/227172978_Marfan_syndrome_from_gene_to_therapy_Curr_Opin_Pediatr

<span style="color: #bc0856; font-family: Georgia,serif; font-size: 130%;">Reactome <span style="font-family: Georgia,serif;">"Extracellular Matrix Organization." <span style="font-family: Georgia,serif;">Used for information regarding the molecular pathway of fibrillin proteins. <span style="font-family: Georgia,serif;">http://www.reactome.org/content/detail/1474244

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