Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes
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DOI: 10.1002/humu.23877
Abstract: DICER1 syndrome is a pleiotropic tumor predisposition syndrome characterized by a distinctive constellation of neoplastic and dysplastic lesions, which are generally rare and affect children and young adults. Germline pathogenic variants in the DICER1 gene… read more here.
Keywords: associated phenotypes; dicer1; ten years; provenance distribution ... See more keywords
IFNL4: Notable Variants and Associated Phenotypes.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.144289
Abstract: Interferon lambda proteins activate the JAK-STAT signalling pathway, resulting in upregulation of genes with antiviral effects. The interferon lambda family was initially thought to be redundant to the interferon alpha family, which signals through the… read more here.
Keywords: associated phenotypes; ifnl4; ifnl4 notable; notable variants ... See more keywords
Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila
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DOI: 10.1038/s41467-020-19451-z
Abstract: The minor spliceosome is evolutionarily conserved in higher eukaryotes, but its biological significance remains poorly understood. Here, by precise CRISPR/Cas9-mediated disruption of the U12 and U6atac snRNAs, we report that a defective minor spliceosome is… read more here.
Keywords: associated phenotypes; intron containing; sma associated; sensitive intron ... See more keywords
Bim contributes to the progression of Huntington's disease-associated phenotypes.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz275
Abstract: Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded polyglutamine (polyQ) tract in the huntingtin (HTT) protein. Mutant HTT (mHTT) toxicity is caused by its aggregation/oligomerisation. The striatum is the most vulnerable region,… read more here.
Keywords: associated phenotypes; bim contributes; huntington disease; disease ... See more keywords
mSphere of Influence: Microbiome-Associated Phenotypes Are Modifiable
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DOI: 10.1128/msphere.00508-20
Abstract: Michael Woodworth focuses on translational microbiome therapeutic research. In this mSphere of Influence article, he reflects on how “Gut microbiomes of Malawian twin pairs discordant for kwashiorkor” by Michelle Smith et al. (M. I. Smith,… read more here.
Keywords: science; microbiome associated; msphere influence; influence ... See more keywords
Genome destabilization-associated phenotypes arising as a consequence of therapeutic treatment are suppressed by Olaparib
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DOI: 10.1371/journal.pone.0281168
Abstract: Malignancy is often associated with therapeutic resistance and metastasis, usually arising after therapeutic treatment. These include radio- and chemo-therapies, which cause cancer cell death by inducing DNA double strand breaks (DSBs). However, it is still… read more here.
Keywords: destabilization associated; destabilization; associated phenotypes; therapeutic treatment ... See more keywords