Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice
Sign Up to like & getrecommendations! Published in 2018 at "Nucleus"
DOI: 10.1080/19491034.2018.1523664
Abstract: ABSTRACT Nesprin-2 is a nuclear envelope component and provides a link between cytoskeletal components of the cytoplasm and the nucleoplasm. Several isoforms are generated from its gene Syne2. Loss of the largest isoform Nesprin-2 Giant… read more here.
Keywords: phenotype; depletion nesprin; embryonic lethal; associated embryonic ... See more keywords
Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants.
Sign Up to like & getrecommendations! Published in 2022 at "Animal genetics"
DOI: 10.1111/age.13241
Abstract: Deficient homozygosity of a variant maintained in a population suggests that the variant may be embryonic lethal. We examined whole genome sequence data from 675 canids to investigate for variants with missing homozygosity and high… read more here.
Keywords: reference; reference genome; genome; embryonic lethal ... See more keywords
Holocarboxylase synthetase knockout is embryonic lethal in mice
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DOI: 10.1371/journal.pone.0265539
Abstract: Holocarboxylase synthetase (HLCS) catalyzes the biotinylation of five distinct biotin-dependent carboxylases and perhaps chromatin proteins. HLCS deficiency causes multiple carboxylase deficiency which results in fatal consequences unless patients are diagnosed early and treated with pharmacological… read more here.
Keywords: knockout embryonic; knockout; embryonic lethal; holocarboxylase synthetase ... See more keywords
Roles of Embryonic Lethal Abnormal Vision-Like RNA Binding Proteins in Cancer and Beyond
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.847761
Abstract: Embryonic lethal abnormal vision-like (ELAVL) proteins are RNA binding proteins that were originally discovered as indispensable regulators of the development and functioning of the nervous system. Subsequent studies have shown that ELAVL proteins not only… read more here.
Keywords: vision like; embryonic lethal; cancer; lethal abnormal ... See more keywords