A novel missense variant in endothelin‐2 (EDN2) causes a growth and respiratory lethal syndrome in bovine
Sign Up to like & getrecommendations! Published in 2022 at "Animal Genetics"
DOI: 10.1111/age.13246
Abstract: Abstract The high level of fragmentation of the Spanish Lidia cattle breed, divided into lineages called ‘castas’ and into herds within lineages based on reproductive isolation, increases the risk of homozygosity and the outbreak of… read more here.
Keywords: novel missense; respiratory lethal; growth; variant ... See more keywords
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
Sign Up to like & getrecommendations! Published in 2023 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202217078
Abstract: Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first… read more here.
Keywords: lethal syndrome; causes lethal; rtk signaling; raf1 deficiency ... See more keywords