Heavy Menstrual Bleeding in Adolescents with Low VWF
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ABSTRACT:
PROVIDER: PRJEB49705 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description: Not available
| S-EPMC8791588 | biostudies-literature
Project description:The ability to predict the type of tissues or cells from molecular profiles of crime scene samples has practical implications in forensics. In order to identify body fluid-specific DNA methylation changes, genome-wide DNA methylation profiling was carried out for body fluids including menstrual blood and vaginal fluid obtained from 3 female donors aged 19, 27 and 38 years. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 450,000 CpGs in bisulfite converted DNA. Samples included 3 of each vaginal fluid and menstrual bloods collected on the first, second and third days of menstrual bleeding. Bisulfite converted DNA from the 12 samples were hybridised to the Illumina Infinium 450k Human Methylation Beadchip
2016-05-14 | E-GEOD-77283 | biostudies-arrayexpress
Project description:The ability to predict the type of tissues or cells from molecular profiles of crime scene samples has practical implications in forensics. In order to identify body fluid-specific DNA methylation changes, genome-wide DNA methylation profiling was carried out for body fluids including menstrual blood and vaginal fluid obtained from 3 female donors aged 19, 27 and 38 years. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 450,000 CpGs in bisulfite converted DNA. Samples included 3 of each vaginal fluid and menstrual bloods collected on the first, second and third days of menstrual bleeding.
2016-05-14 | GSE77283 | GEO
Project description:An in-frame heterozygous large deletion of exons 4-34 of the von Willebrand factor (VWF) gene was identified in an index patient (IP) with type 3 von Willebrand disease (VWD), as the only mutation. The IP exhibited severe bleeding episodes despite prophylaxis treatment, with a short VWF half-life after infusion of VWF/FVIII concentrates. This study intends to elucidate the causal molecular mechanism of this large deletion. Transcript analysis confirmed transcription of normal VWF mRNA besides an aberrant deleted transcript. The amount of secreted VWF from blood outgrowth endothelial cells (BOECs) isolated from the IP was not significantly different from that of controls. However, IP-BOECs exhibited a deficiency in the assembly of VWF multimers and biogenesis of the Weibel-Palade bodies (WPBs). Furthermore, immunostaining of IP-BOECs demonstrated subcellular mislocalization of WPBs pro-inflammatory cargos angiopoietin-2 (Ang2) and P-selectin. Additionally, whole-transcriptome RNA-sequencing of the BOECs and subsequent Ingenuity Pathway Analysis indicated the significant alterations of canonical pathways in IP-BOECs related to inflammatory responses, cell adhesion, extracellular organization, and angiogenesis (e.g. granulocyte adhesion and Rho-related signaling pathways), which are known downstream signaling pathways induced by Ang2. Accordingly, the IP-BOECs exhibited an increased adhesiveness to leukocytes which may contribute to accelerated VWF clearance. In conclusion, deleted VWF has a dominant-negative impact on the elongation of multimers and biogenesis of WPBs. Aberrant WPBs lead to the alternative trafficking of its cargos in a specific way, which, in turn, may cause distinctive perturbations in cellular signaling pathways, resulting in the exceptional phenotypes in the current patient.
2021-11-30 | GSE161715 | GEO
Project description:Constitutive VWF secretion can be increased by a range of factors; changes in VWF expression, levels of TNF-alpha or other environmental cues. An RNAseq analysis revealed that expression of RGS4 (Regulator of G protein signalling 4) was reduced in endothelial cells (HUVECs) grown under these conditions. si-RGS4 treatment of HUVECs increased constitutive basolateral secretion of VWF, probably by affecting the anterograde secretory pathway. In a simple model of endothelial damage we show that RGS4-silenced cells increased platelet recruitment onto the subendothelial matrix under flow. These results show that changes in RGS4 expression alter levels of subendothelial VWF, affecting platelet recruitment. This introduces a novel control over VWF function.
2020-06-06 | GSE151854 | GEO
Project description:Here we examine the chromatin landscapes of Vwf+ HSCs from young (2 months) vs old (24 months) mouse bone marrow.
2023-02-22 | GSE219096 | GEO
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| S-EPMC8576265 | biostudies-literature
Project description:Current endometrial receptivity tests require an invasive method of collecting of endometrial biopsies that can cause general discomfort and adverse events such as infections, pain, and bleeding. Therefore, minimally-invasive methodologies for receptivity evaluation are needed. Cervical cells could offer a great potential for endometrial receptivity testing because cervical cell collection by cytobrush is a standardized, quick, simple, well tolerated, minimally invasive and routinely used sampling technique in everyday gynaecological practice. To date, no studies have evaluated the suitability of cervical cells for endometrial receptivity testing based on transcriptional profiling throughout the menstrual cycle. In this study, paired samples of the endometrium and cervical cells were obtained from 20 women in different menstrual cycle time-points in natural cycles and women undergoing hormonal replacement cycles. The gene expression profiles of cervical cells showed no apparent clustering according to their collection time and menstrual cycle phase. Transcriptome analysis identified only four (KIF2C, CENPF, HLA-DRB5 and CUTALP) differentially expressed genes between the early- and mid-secretory samples, suggesting that the transcriptomes of cervical cells, in contrast to endometrial tissue, do not exhibit significant differences during the window of implantation opening. The largest differences in the transcriptome of cervical cells were noticed in late-secretory phase, before initiation of menstruation. The results of our study suggested that cervical cells’ transcriptome does not reflect the gene expression pattern of endometrial tissue during the WOI and these cells offer little or no potential for endometrial receptivity diagnostics.
2023-07-09 | GSE221127 | GEO
Project description:A type 3 von Willebrand disease (VWD) index patient (IP) remains mutation-negative after completion of conventional diagnostic analysis, including multiplex ligation-dependent probe amplification and sequencing of the promotor, exons, and flanking intronic regions of VWF gene (VWF). In this study, we intended to elucidate causitive genetic defect through screening of the whole VWF (including complete intronic region), mRNA analysis, and study of the patient-derived endothelial colony-forming cells (ECFCs). The entire VWF was analyzed by next-generation sequencing (NGS) on an Illumina platform. The NGS revealed a novel variant in VWF intron 8 (997+118 T>G). The subsequent assessments using bioinformatics tools (e.g. SpliceAl) predicted this variant creates a new donor splice site (ss) in intron 8, which could outcompete the consensus 5’ donor ss at exon/intron 8 junction. This leads to an aberrant mRNA which contains a premature stop codon, targeting it to nonsense-mediated mRNA decay. The VWF mRNA from whole blood and isolated ECFCs were quantified using the TaqMan assay on an ABI 7500 real-time PCR system. The quantitative analysis confirmed the virtual absence of VWF mRNA. Additionally, the level of secreted VWF from IP ECFCs was considerably reduced (~6% of healthy donors).
2022-03-30 | GSE195695 | GEO