Genome-wide detection of human variants that disrupt intronic branchpoints
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1101/2022.04.18.488668
Abstract: Pre-mRNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within a BP motif by spliceosome elements. Fifty-six rare variants in 44 human genes have been reported to alter splicing and cause… read more here.
Keywords: detection human; human variants; genome wide; variants disrupt ... See more keywords
NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy
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DOI: 10.1111/cge.13215
Abstract: Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1‐year‐old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra,… read more here.
Keywords: disrupt mitochondrial; ndufaf3 variants; variants disrupt; complex ... See more keywords
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15412
Abstract: GATA1 is an essential transcription factor for both polyploidization and megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant carriers is not well understood. read more here.
Keywords: disrupt myh10; myh10 silencing; gata1 pathogenic; pathogenic variants ... See more keywords