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
Extraction of RNA and Analysis of Estrogen-Responsive Genes by RT-qPCR.
Sign Up to like & getrecommendations! Published in 2022 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-1920-9_8
Abstract: Reverse transcription-quantitative RT-PCR (RT-qPCR) is a powerful tool for assessing gene transcription levels. The technique is especially useful for measuring estrogen receptor transcript levels as well as gene expression changes in response to estrogen stimulation… read more here.
Keywords: extraction; extraction rna; estrogen; rna analysis ... See more keywords
Quantitative RNA Analysis Using RNA-Seq.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9210-2_4
Abstract: High-throughput sequencing of cDNA copies of mRNA (RNA-seq) provides a digital readout of mRNA levels over several orders of magnitude, as well as mapping the transcripts to the nucleotide level. Here we describe two different… read more here.
Keywords: rna analysis; quantitative rna; biology; using rna ... See more keywords
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2021.03.006
Abstract: Summary The complexities of gene expression pose challenges for the clinical interpretation of splicing variants. To better understand splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clinical classifications, and associations with… read more here.
Keywords: splicing variants; clinical interpretation; rna analysis; vuss ... See more keywords
Molecular Approaches To Address the Challenges of RNA Analysis in Complex Matrices.
Sign Up to like & getrecommendations! Published in 2018 at "Analytical chemistry"
DOI: 10.1021/acs.analchem.8b01621
Abstract: We present on a design change and addition of an internal polyethylene glycol (PEG) spacer to an existing biosensor. There were two reasons for changing the sensor design. The first was to increase the stability… read more here.
Keywords: analysis complex; approaches address; molecular approaches; rna analysis ... See more keywords
RNA Interference and Small RNA Analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor protocols"
DOI: 10.1101/pdb.top097436
Abstract: Small silencing RNAs have provided powerful reverse genetics tools and have opened new areas of research. This introduction describes the use of RNAi to suppress expression of individual genes for loss-of-function analysis. It also summarizes… read more here.
Keywords: small rna; interference small; rna analysis; rna ... See more keywords
Total RNA Analysis of Bacterial Community Structural and Functional Shifts Throughout Vertebrate Decomposition
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Forensic Sciences"
DOI: 10.1111/1556-4029.14083
Abstract: Multiple methods have been proposed to provide accurate time since death estimations, and recently, the discovery of bacterial community turnover during decomposition has shown itself to have predictable patterns that may prove useful. In this… read more here.
Keywords: community; rna analysis; total rna; bacterial community ... See more keywords
Single-cell chromatin and RNA analysis
Sign Up to like & getrecommendations! Published in 2018 at "Science"
DOI: 10.1126/science.361.6409.1350-b
Abstract: Single-Cell Genomics Single-cell analyses have begun to provide insight into the differences among and within the individual cells that make up a tissue or organism. However, technological barriers owing to the small amount of material… read more here.
Keywords: single cell; rna analysis; chromatin rna; cell chromatin ... See more keywords
RNA analysis of diet-induced sarcopenic obesity in rats.
Sign Up to like & getrecommendations! Published in 2022 at "Archives of gerontology and geriatrics"
DOI: 10.2139/ssrn.4196381
Abstract: Obesity has been suggested as a risk factor for sarcopenia. Sarcopenic obesity (SO), as a new category of obesity, is a high-risk geriatric syndrome in elderly individuals. However, knowledge about the molecular pathomechanisms of SO… read more here.
Keywords: sarcopenic obesity; diet induced; obesity; rna analysis ... See more keywords