Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1877
Abstract: Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. RNA splicing… read more here.
Keywords: analysis identify; analysis; sequencing rna; exome sequencing ... See more keywords
Bisulfite Sequencing of RNA for Transcriptome-Wide Detection of 5-Methylcytosine.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8808-2_1
Abstract: A powerful method to determine the methylation status of specific cytosine residues within RNA is bisulfite sequencing. In combination with high-throughput sequencing methods cytosine methylation can be determined at nucleotide resolution on a transcriptome-wide level.… read more here.
Keywords: sequencing rna; bisulfite sequencing; rna transcriptome; wide detection ... See more keywords
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
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DOI: 10.1016/j.ymgme.2018.10.004
Abstract: Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial… read more here.
Keywords: sequencing rna; disease; rsv; canavan disease ... See more keywords
Next generation sequencing and RNA-seq characterization of adipose tissue in the Nile crocodile (Crocodylus niloticus) in South Africa: Possible mechanism(s) of pathogenesis and pathophysiology of pansteatitis
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DOI: 10.1371/journal.pone.0225073
Abstract: Background Concerted efforts to identify the pathogenesis and mechanism(s) involved in pansteatitis, (a generalized inflammation of the adipose tissue), that was attributed to the recent crocodile die off in the Olifants River and Loskop Dam… read more here.
Keywords: crocodile; pansteatitis; south africa; sequencing rna ... See more keywords
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
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DOI: 10.3389/fgene.2019.01363
Abstract: Alagille syndrome (ALGS), as known as congenital arteriohepatic dysplasia, is a rare autosomal dominant multi-systemic disorder. Mutations in JAG1 or more rarely NOTCH2 have been reported as the cause of ALGS. In this study, a… read more here.
Keywords: jag1 splicing; sequencing rna; rna assay; alagille syndrome ... See more keywords