Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Research"
DOI: 10.1038/pr.2018.30
Abstract: BackgroundMutations in the NK2 homeobox 1 (NKX2-1) gene are associated with lung disease in infants and children. We hypothesize that disruption of normal surfactant gene expression with these mutations contributes to the respiratory phenotypes observed.MethodsTo… read more here.
Keywords: gene; sftpb sftpc; expression; mutations thyroid ... See more keywords
Abstract 228: Recurrent mitochondrial mutations in thyroid cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-228
Abstract: Despite the importance of mitochondrial function on the bioenergetics and metabolism of the cell, understanding the functional impact of somatic mitochondrial mutations has been difficult. Additionally, small cohorts, as used in previous studies, lack the… read more here.
Keywords: mitochondrial mutations; thyroid cancer; cancer; mutations thyroid ... See more keywords