Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR34063245_1.fastq.gz | Fastqsanger.gz | |||
| SRR34063245_2.fastq.gz | Fastqsanger.gz |
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Similar Datasets
Project description:Maturity onset diabetes of the young (MODY) is caused by a mutation in a single gene and leads to diabetes under the age of 25. The mutations in HNF1A gene (leading to HNF1A-MODY) cause about 70% of all MODY cases. It was shown that patients with HNF1A-MODY often develop diabetic microvascular complications, related to endothelial dysfunction, however, it is not clear whether these complications are the result of hyperglycemia or due to the genetic mutation in HNF1A gene. For analysis, monoallelic (MAC) and biallelic (BAC) mutants in the HNF1A gene were used for comparative proteomics to the isogenic control (hiPSCs-EC).
2026-03-01 | PXD039471 | Pride
Project description:The experiment aims to find differences in gene expression in endothelial cells due to a heterozygous mutation in HNF1A, which cause maturity-onset diabetes of the young (MODY). For that purpose human induced pluripotent stem cell (hiPSCs) line from an HNF1A-MODY patient was repaired using CRISPR/Cas9, thus generating two isogenic (patient-specific) control lines. The hiPSCs from patient and the respective control lines were differentiated toward endothelial cells, and the gene expression in these cells was compared.
2026-02-22 | E-MTAB-16548 | biostudies-arrayexpress
Project description:Introduction: Maturity-onset Diabetes of the Young (MODY) is a rare form of diabetes and arises from mutations in key regulatory genes of the pancreatic beta-cell, leading to their functional impairment and early-onset diabetes. Research into PDX1-MODY, a form of MODY caused by mutations in the PDX1 gene, enhances understanding of gene-specific mechanisms underlying glucose dysregulation and provides insights into possible approaches to restore normal metabolic function. However, no currently published mouse model accurately depicts the genetic cause of PDX1-MODY in human patients. Methods: Using CRISPR-Cas9 technology, we generated the first mouse model carrying one of the most prevalent pathological PDX1 point mutation found in human patients, P33T, and conducted an 18-week in vivo phenotyping experiment assessing homozygous PDX1P33T and wild type littermates on both chow and high fat diet (HFD). Additionally, transcriptomic and proteomic analyses were performed on isolated pancreatic islets. Islet architecture was investigated via fluorescent microscopy. Result: Contrary to expectations, our comprehensive phenotypic analysis of the mouse model carrying the homozygous PDX1P33T point mutation revealed no significant differences in metabolic parameters compared to wild-type controls, and no pathological outcomes were observed as seen in human patients. Notably, male PDX1P33T mice exhibited an increase in islet size and number on chow diet but failed to adapt respectively on HFD. Discussion: Our work indicates substantial differences between mouse and human PDX1 function in the pancreas. Further refinement of animal models is necessary to better elucidate the pathophysiology of PDX1-MODY. Ultimately, this study emphasizes the complexities involved in translating human pathologies to animal models, serving as a reminder that findings generated in mice may not always be easily translated to humans.
2025-10-14 | PXD066252 | Pride
Project description:Maturity-onset Diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Using next generation sequencing, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Our findings report that HNF1A and ABCC8 are among the most frequently mutated MODY genes in south India.
| EGAS00001001699 | EGA
Project description:Induced pluripotent stem cells (iPSCs) provide a well-defined source of tissue-specific cells and are invaluable disease modeling tools. As HNF1A-MODY patients were shown to exhibit diabetic microvascular complications, their iPSCs can be used to derive endothelial cells (ECs) and investigate possible mechanisms contributing to the complications. However, the clinical phenotype of HNF1A-MODY diabetes varies considerably, and studies examining correlations between genotype and phenotype are still rare. Therefore, in the current study, we looked for possible endothelial dysfunction using iPSCs as disease modeling tools. HNF1A-MODY phenotype was modeled through the introduction of mutations in HNF1A gene in control human induced pluripotent stem cells (hiPSCs) lines, using CRISPR/Cas9, generating both monoallelic and biallelic mutation in HNF1A. The mutations resulted in premature stop codon of HNF1A gene. Subsequently, all lines were differentiated toward ECs (hiPSC-ECs), cell sorted to obtain pure population of CD31+/VE-cad+ cells, and used for global transcriptome analysis.
2026-02-19 | E-MTAB-10404 | biostudies-arrayexpress
Project description:This project investigates the impact of the hotspot mutation P291fsinsC in HNF1A-MODY (Maturity-Onset Diabetes of the Young) on stem cell-derived islets. RNA sequencing (RNA-seq) was performed on islets differentiated from mutant and control HNF1A-MODY stem cells to study the mutation's effect on gene expression. By comparing the transcriptomic profiles of these islets, the study aims to uncover molecular mechanisms underlying the dysfunction caused by the P291fsinsC mutation during islet development and maturation.
2026-02-11 | GSE291570 | GEO
Project description:This project investigates the impact of the hotspot mutation P291fsinsC in HNF1A-MODY (Maturity-Onset Diabetes of the Young) on stem cell-derived islets. RNA sequencing (RNA-seq) was performed on islets differentiated from mutant and control HNF1A-MODY stem cells to study the mutation's effect on gene expression. By comparing the transcriptomic profiles of these islets, the study aims to uncover molecular mechanisms underlying the dysfunction caused by the P291fsinsC mutation during islet development and maturation.
2026-03-30 | GSE300388 | GEO
Project description:This project investigates the impact of the hotspot mutation P291fsinsC in HNF1A-MODY (Maturity-Onset Diabetes of the Young) on stem cell-derived islets. RNA sequencing (RNA-seq) was performed on islets differentiated from mutant and control HNF1A-MODY stem cells to study the mutation's effect on gene expression. By comparing the transcriptomic profiles of these islets, the study aims to uncover molecular mechanisms underlying the dysfunction caused by the P291fsinsC mutation during islet development and maturation.
2026-02-11 | GSE288932 | GEO
Project description:This project investigates the impact of the hotspot mutation P291fsinsC in HNF1A-MODY (Maturity-Onset Diabetes of the Young) on stem cell-derived islets. RNA sequencing (RNA-seq) was performed on islets differentiated from mutant and control HNF1A-MODY stem cells to study the mutation's effect on gene expression. By comparing the transcriptomic profiles of these islets, the study aims to uncover molecular mechanisms underlying the dysfunction caused by the P291fsinsC mutation during islet development and maturation.
2026-03-30 | GSE288431 | GEO
Project description:This project investigates the impact of the Hnf1a hotspot mutation similar to HNF1A-MODY (Maturity-Onset Diabetes of the Young) on glucagon expressing cells in the intestine. RNA sequencing (RNA-seq) data was preformed on intestinal crypts isolated from duodenum from mutant and control Hnf1a mice to study the mutation's effect on gene expression. By comparing the transcriptomcis profiles of these crypts, the study aims to uncover molecular mehcnaisms underlying the phenotype caused by HNF1A-MODY during adulhood.
2026-05-29 | GSE311839 | GEO