WebbThe recent core gene list for hereditary nonsyndromic and syndromic TAAD has been established by Arslan-Kirchner et al 47 and includes ACTA2, COL3A1, FBN1, FLNA, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SMAD3, TGFB2, TGFB3, TGFBR1, and TGFBR2. WebbCysteine S-glutathionylation is post-translational protein modification that plays an important role in the physiological reaction to oxidative stress. 110, 111 FoXO1 glutathionylation mainly enhances FoXO1 DNA-binding capacity and subsequent transcriptional activity in response to oxidative environments, and does not affect FoXO1 …
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Webbcardiomyopathy (4 Genes) DTNA, MYBPC3, MYH7, TNNT2. Thoracic aortic aneurysms and dissection (7 Genes) ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2. Familial atrial fibrillation (3 Genes) GJA5, KCNA5, KCNE2. Congenital heart disease (3 Genes) PIGL, ZIC3, JAG1. Hereditary angiopathy with nephropathy (1 Gene) COL4A1. Supravalvular … Webb21 mars 2024 · An important paralog of this gene is SMAD3. UniProtKB/Swiss-Prot Summary for SMAD2 Gene Receptor-regulated SMAD (R-SMAD) that is an intracellular … irobot types
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WebbBlueprint Genetics' SMAD3 single gene test SMAD3 single gene test. Orders including this test may experience turnaround time delays of up to 3 ... saliva and dry blood spots … Webb16 jan. 2013 · The prevalence of SMAD4, SMAD2, and SMAD3 mutations in sporadic CRCs was 8.6% (64 of 744), 3.4% (25 of 744), and 4.3% (32 of 744), respectively. A significant … WebbGene symbol: SMAD3: Gene name: SMAD family member 3: Chromosome: 15: Chromosomal band: q21-q22: Imprinted: Unknown: Genomic reference: NG_011990.1: … irobot user\\u0027s manual