COL4A3 is degraded in allergic asthma and degradation predicts response to anti-IgE therapy
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DOI: 10.1183/13993003.03969-2020
Abstract: Background Asthma is a heterogeneous syndrome substantiating the urgent requirement for endotype-specific biomarkers. Dysbalance of fibrosis and fibrolysis in asthmatic lung tissue leads to reduced levels of the inflammation-protective collagen 4 (COL4A3). Objective To delineate… read more here.
Keywords: degradation; col4a3; ige therapy; anti ige ... See more keywords
Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.839212
Abstract: Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only… read more here.
Keywords: col4a3; mutation col4a3; missense mutation; heterozygous missense ... See more keywords