Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.
Sign Up to like & getrecommendations! Published in 2022 at "Hematology"
DOI: 10.1080/16078454.2022.2058736
Abstract: ABSTRACT Objectives LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical… read more here.
Keywords: lrba gene; revealed novel; next generation; targeted next ... See more keywords
An in silico analysis revealed a novel evolutionary lineage of putative mitoviruses.
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DOI: 10.1111/1462-2920.16202
Abstract: Mitoviruses (family Mitoviridae) are small capsid-less RNA viruses that replicate in the mitochondria of fungi and plants. However, to date, the only authentic animal mitovirus infecting an insect was identified as Lutzomyia longipalpis mitovirus 1… read more here.
Keywords: novel evolutionary; putative mitoviruses; analysis revealed; lineage ... See more keywords
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
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DOI: 10.3390/ijms24108729
Abstract: Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least… read more here.
Keywords: pathogenic variants; function; wgs revealed; novel bbs5 ... See more keywords