Identification of regulatory variants of carboxylesterase 1 (CES1): A proof‐of‐concept study for the application of the Allele‐Specific Protein Expression (ASPE) assay in identifying cis‐acting regulatory genetic polymorphisms
Sign Up to like & getrecommendations! Published in 2022 at "Proteomics"
DOI: 10.1002/pmic.202200176
Abstract: It is challenging to study regulatory genetic variants as gene expression is affected by both genetic polymorphisms and non‐genetic regulators. The mRNA allele‐specific expression (ASE) assay has been increasingly used for the study of cis‐acting… read more here.
Keywords: regulatory variants; allele specific; expression; acting regulatory ... See more keywords
Allele-Specific Epigenome Editing.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7774-1_6
Abstract: The discovery and adaptation of the CRISPR/Cas system for epigenome editing has allowed for a straightforward design of targeting modules which can direct epigenetic editors to virtually any genomic site. This advancement in DNA-targeting technology… read more here.
Keywords: specific epigenome; epigenome editing; allele specific;
Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Genomics"
DOI: 10.1007/s00438-019-01598-0
Abstract: P2RX7 (purinergic receptor P2X 7) is an important membrane ion channel and involved in multiple physiological processes. One non-synonymous SNP on P2RX7, rs3751143, had been proven to reduce ion channel function and further associated with… read more here.
Keywords: specific expression; p2rx7; snp; allele specific ... See more keywords
Identification of novel genetic sources for agronomic and quality traits in soybean using multi-trait allele specific genic marker assays
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Plant Biochemistry and Biotechnology"
DOI: 10.1007/s13562-020-00580-x
Abstract: Natural allelic variation among the genes governing various agronomic and quality traits of plant provides opportunity to develop desirable plant type in crops. In soybean [ Glycine max (L.) Merr.], natural allelic variation is known… read more here.
Keywords: specific genic; trait allele; genic marker; allele specific ... See more keywords
Simple quantitative PCR analysis for allelic Pten loss in tumor progression.
Sign Up to like & getrecommendations! Published in 2017 at "Analytical biochemistry"
DOI: 10.1016/j.ab.2017.03.016
Abstract: We describe a simple method to accurately detect and quantify both Pten mutation and allele-specific loss using allele-specific PCR analysis. Our approach used a heterozygous genomic DNA with one wild-type and one mutant Pten allele… read more here.
Keywords: analysis; pcr; allele specific; loss tumor ... See more keywords
Development of duplex-crossed allele-specific PCR targeting of TPMT*3B and *3C using crossed allele-specific blockers to eliminate non-specific amplification.
Sign Up to like & getrecommendations! Published in 2019 at "Analytical biochemistry"
DOI: 10.1016/j.ab.2019.03.019
Abstract: Prospective testing for variants in the thiopurine S-methyltransferase (TPMT) is considered a key process in the development of thiopurine therapy. This testing is done to avoid toxicity and side effects in the management of diverse… read more here.
Keywords: non specific; specific amplification; crossed allele; pcr ... See more keywords
An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.03.001
Abstract: Genome-wide association studies (GWASs) have reproducibly associated variants within intergenic regions of 1p36.12 locus with osteoporosis, but the functional roles underlying these noncoding variants are unknown. Through an integrative functional genomic and epigenomic analyses, we… read more here.
Keywords: loop; expression; long range; allele specific ... See more keywords
A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.10.011
Abstract: Huntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading therapeutic strategy for HD, with allele-selective approaches targeting HTT SNPs now… read more here.
Keywords: comprehensive haplotype; htt; allele specific; strategy ... See more keywords
Allele-Specific QTL Fine Mapping with PLASMA.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.12.011
Abstract: Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition to traditional QTLs by association,… read more here.
Keywords: causal variants; qtl based; mapping; allele specific ... See more keywords
Differential Allele-Specific Expression Uncovers Breast Cancer Genes Dysregulated by Cis Noncoding Mutations.
Sign Up to like & getrecommendations! Published in 2020 at "Cell systems"
DOI: 10.1016/j.cels.2020.01.002
Abstract: Identifying cancer-relevant mutations in noncoding regions is challenging due to the large numbers of such mutations, their low levels of recurrence, and difficulties in interpreting their functional impact. To uncover genes that are dysregulated due… read more here.
Keywords: noncoding mutations; ase; allele specific; cancer ... See more keywords
Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer.
Sign Up to like & getrecommendations! Published in 2021 at "Cell systems"
DOI: 10.1016/j.cels.2021.10.001
Abstract: Pan-cancer studies sketched the genomic landscape of the tumor types spectrum. We delineated the purity- and ploidy-adjusted allele-specific profiles of 4,950 patients across 27 tumor types from the Cancer Genome Atlas (TCGA). Leveraging allele-specific data,… read more here.
Keywords: cancer; copy number; role; allele specific ... See more keywords