Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385257415> ?p ?o ?g. }
- W4385257415 abstract "Cardiovascular diseases (CVDs) are the leading cause of death worldwide. Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) appearing in non-coding genomic regions in CVDs. The SNPs may alter gene expression by modifying transcription factor (TF) binding sites and lead to functional consequences in cardiovascular traits or diseases. To understand the underlying molecular mechanisms, it is crucial to identify which variations are involved and how they affect TF binding.The SNEEP (SNP exploration and analysis using epigenomics data) pipeline was used to identify regulatory SNPs, which alter the binding behavior of TFs and link GWAS SNPs to their potential target genes for six CVDs. The human-induced pluripotent stem cells derived cardiomyocytes (hiPSC-CMs), monoculture cardiac organoids (MCOs) and self-organized cardiac organoids (SCOs) were used in the study. Gene expression, cardiomyocyte size and cardiac contractility were assessed.By using our integrative computational pipeline, we identified 1905 regulatory SNPs in CVD GWAS data. These were associated with hundreds of genes, half of them non-coding RNAs (ncRNAs), suggesting novel CVD genes. We experimentally tested 40 CVD-associated non-coding RNAs, among them RP11-98F14.11, RPL23AP92, IGBP1P1, and CTD-2383I20.1, which were upregulated in hiPSC-CMs, MCOs and SCOs under hypoxic conditions. Further experiments showed that IGBP1P1 depletion rescued expression of hypertrophic marker genes, reduced hypoxia-induced cardiomyocyte size and improved hypoxia-reduced cardiac contractility in hiPSC-CMs and MCOs.IGBP1P1 is a novel ncRNA with key regulatory functions in modulating cardiomyocyte size and cardiac function in our disease models. Our data suggest ncRNA IGBP1P1 as a potential therapeutic target to improve cardiac function in CVDs." @default.
- W4385257415 created "2023-07-26" @default.
- W4385257415 creator A5002226049 @default.
- W4385257415 creator A5025706940 @default.
- W4385257415 creator A5026698381 @default.
- W4385257415 creator A5029156477 @default.
- W4385257415 creator A5032658222 @default.
- W4385257415 creator A5033632697 @default.
- W4385257415 creator A5040388344 @default.
- W4385257415 creator A5042049128 @default.
- W4385257415 creator A5044673676 @default.
- W4385257415 creator A5049306248 @default.
- W4385257415 creator A5053928689 @default.
- W4385257415 creator A5061017983 @default.
- W4385257415 creator A5089837706 @default.
- W4385257415 creator A5090958760 @default.
- W4385257415 date "2023-07-25" @default.
- W4385257415 modified "2023-10-16" @default.
- W4385257415 title "CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes" @default.
- W4385257415 cites W1499558028 @default.
- W4385257415 cites W1768880427 @default.
- W4385257415 cites W1783247684 @default.
- W4385257415 cites W2035558798 @default.
- W4385257415 cites W2063305900 @default.
- W4385257415 cites W2084224634 @default.
- W4385257415 cites W2122732537 @default.
- W4385257415 cites W2127848520 @default.
- W4385257415 cites W2131164829 @default.
- W4385257415 cites W2140952049 @default.
- W4385257415 cites W2141820415 @default.
- W4385257415 cites W2166320441 @default.
- W4385257415 cites W2192025959 @default.
- W4385257415 cites W2198606573 @default.
- W4385257415 cites W2641818139 @default.
- W4385257415 cites W2781723573 @default.
- W4385257415 cites W2811205482 @default.
- W4385257415 cites W2886627309 @default.
- W4385257415 cites W2896364049 @default.
- W4385257415 cites W2901303766 @default.
- W4385257415 cites W2914060362 @default.
- W4385257415 cites W2935248669 @default.
- W4385257415 cites W2944545583 @default.
- W4385257415 cites W2947453544 @default.
- W4385257415 cites W2949265370 @default.
- W4385257415 cites W2983166786 @default.
- W4385257415 cites W2988716798 @default.
- W4385257415 cites W2991283206 @default.
- W4385257415 cites W2998185669 @default.
- W4385257415 cites W3003471562 @default.
- W4385257415 cites W3012337615 @default.
- W4385257415 cites W3031027624 @default.
- W4385257415 cites W3031682215 @default.
- W4385257415 cites W3038657157 @default.
- W4385257415 cites W3047823165 @default.
- W4385257415 cites W3082970736 @default.
- W4385257415 cites W3111061871 @default.
- W4385257415 cites W3126203177 @default.
- W4385257415 cites W3127238141 @default.
- W4385257415 cites W3127538277 @default.
- W4385257415 cites W3130819465 @default.
- W4385257415 cites W3139489282 @default.
- W4385257415 cites W3175860742 @default.
- W4385257415 cites W3195285310 @default.
- W4385257415 cites W3197217231 @default.
- W4385257415 cites W4224315885 @default.
- W4385257415 cites W4225671220 @default.
- W4385257415 cites W4226027293 @default.
- W4385257415 cites W4226244268 @default.
- W4385257415 cites W4229376423 @default.
- W4385257415 cites W4282927968 @default.
- W4385257415 cites W4285098775 @default.
- W4385257415 cites W4294631170 @default.
- W4385257415 cites W4307092738 @default.
- W4385257415 cites W4318393690 @default.
- W4385257415 cites W4318480332 @default.
- W4385257415 cites W4319065602 @default.
- W4385257415 doi "https://doi.org/10.1186/s40246-023-00513-4" @default.
- W4385257415 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37491351" @default.
- W4385257415 hasPublicationYear "2023" @default.
- W4385257415 type Work @default.
- W4385257415 citedByCount "0" @default.
- W4385257415 crossrefType "journal-article" @default.
- W4385257415 hasAuthorship W4385257415A5002226049 @default.
- W4385257415 hasAuthorship W4385257415A5025706940 @default.
- W4385257415 hasAuthorship W4385257415A5026698381 @default.
- W4385257415 hasAuthorship W4385257415A5029156477 @default.
- W4385257415 hasAuthorship W4385257415A5032658222 @default.
- W4385257415 hasAuthorship W4385257415A5033632697 @default.
- W4385257415 hasAuthorship W4385257415A5040388344 @default.
- W4385257415 hasAuthorship W4385257415A5042049128 @default.
- W4385257415 hasAuthorship W4385257415A5044673676 @default.
- W4385257415 hasAuthorship W4385257415A5049306248 @default.
- W4385257415 hasAuthorship W4385257415A5053928689 @default.
- W4385257415 hasAuthorship W4385257415A5061017983 @default.
- W4385257415 hasAuthorship W4385257415A5089837706 @default.
- W4385257415 hasAuthorship W4385257415A5090958760 @default.
- W4385257415 hasBestOaLocation W43852574151 @default.
- W4385257415 hasConcept C104317684 @default.
- W4385257415 hasConcept C106208931 @default.
- W4385257415 hasConcept C135763542 @default.