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COL3A1Collagen, Type III, Alpha1
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They had previously proposed the compensatory role of the av[beta]3 integrin receptor in anoikis (apoptosis induced by extracellular matrix disassembly) rescue in COL5A1 and COL3A1 mutations associated with cEDS and vEDS, respectively (33).
Although it is most likely that her COL3A1 mutation arose de novo (in the absence of a family history consistent with an autosomal dominant pattern of inheritance) her twin brother was offered pre-symptomatic genetic testing as germline mosaicism in one of their parents could not be excluded.
(b) UUO and non-UUO kidneys were evaluated for mRNA expression of Col1a1 and Col3a1 by qPCR.
(c) Scatter plot showing mRNA expression in whole kidney tissue of Col3a1 as fold change.
Expressions of gene encoding collagens (COL3A1, COL1A1) were greatly increased.
Vascular EDS is associated with mutations in type III procollagen (COL3A1: OMIM #120180).
(b) qPCR analysis of Tgfb1, Col1a1, Col3a1, and Kim1 mRNA expression in renal cortex extracts from 20-week-old WT diabetic and [Hmox.sup.+/-] diabetic mice.
As shown in Figures 2(a) and 2(b), both the protein and mRNA expressions of COL1A1, COL3A1, and elastin were significantly decreased in the 5333 [mu]strain group compared with those in the nonstrain control group.
Jia-qing et al., "miRNA-29a targets COL3A1 to regulate the level of type III collagen in pig," Gene, vol.
By targeting the common ECM protein connective tissue growth factor (CTGF), miR-18a and miR-19b downregulated collagen (COL) 1A1 and COL3A1 expression, resulting in the alleviation of cardiac fibrosis in age-related heart failure induced by TGF-[sz] activation.[sup][69] A reciprocal loop has been identified between miR-21 and its target TGF receptor III, leading to ECM remodeling and fibrosis.
Naing et al investigated the Ehlers-Danlos syndrome, which is a dominant autosome disorder of vascular type developed by mutations in procollagen type 3 (Col3A1) through HRM for screening mutations after the PCR as a highly sensitive screening tool for mutations in large genes, in combination with the small loop genotyping method (SAG) of genomic DNA as a rapid diagnosis method for Col3A1 gene mutation with high specificity (44).
Es el sindrome de Sack-Barrabas convertido en el sindrome de Ehlers-Danlos de tipo IV, caracterizado por la mutacion del COL3A1 (Pope, Martin & Lichtenstein, 1975).