Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA129999 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:We perfomed transcriptomic and methylomic analysis of sural nerve biopsies from type 2 diabetic patients with neuropathy. Sural nerve transcriptomic and methylomic profiles were integrated and subsequent biological meaning investigated using KEGG pathway analysis of overlapping differentially expressed genes (DEGs) and differentially methylated genes (DMGs). A gene interation network was also generated including DEGs and DMGs, and common biological pathways were identified.
2020-08-24 | GSE148060 | GEO
Project description:We perfomed transcriptomic and methylomic analysis of sural nerve biopsies from type 2 diabetic patients with neuropathy. Sural nerve transcriptomic and methylomic profiles were integrated and subsequent biological meaning investigated using KEGG pathway analysis of overlapping differentially expressed genes (DEGs) and differentially methylated genes (DMGs). A gene interation network was also generated including DEGs and DMGs, and common biological pathways were identified.
2020-08-24 | GSE148059 | GEO
Project description:Small RNA (miRNA) sequencing of human sural nerves with (n=6) and without (n=6) diabetic peripheral neuropathy
2026-07-21 | GSE324215 | GEO
Project description:Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia caused by a toxic gain-of-function CAG expansion in ATXN3. Currently, no effective preventive or disease-modifying treatments exist for this uniformly fatal disorder. This progressive, multisystem disorder is typified by neuronal degeneration and demyelination of critical parts of the central nervous system. Additionally, more than half of individuals with SCA3 also exhibit peripheral neuropathy symptoms like reduced limb sensation or burning pains, significantly impacting quality of life and contributing to mobility impairments. However, exploration into cell types and disease mechanisms underlying the SCA3 peripheral nervous system abnormalities remains limited by lack of comprehensive SCA3 animal model characterizations. This study employs the transgenic full-length human mutant ATXN3 YACQ84 (Q84/Q84) mouse to assess progression of sensorimotor behaviors, nerve conduction abnormalities, and ultrastructural features of neuropathy. Nerve conduction studies in Q84/Q84 mice show prominent sensorimotor nerve conduction velocity reductions in the sciatic and sural nerves and blunted signal amplitudes in the sural nerve, suggestive of axon loss and demyelination. Behaviorally, Q84/Q84 mice display abnormal responses to thermal and mechanical stimuli. Histological analysis of Q84/Q84 peripheral nerves reveals combined neuronal and glial pathology, characterized by loss of both large myelinated and small unmyelinated fibers, alongside demyelination pathologies. Bulk analyses of Q84/Q84 dorsal root ganglia and sciatic nerves revealed sensory neuropathy-related transcriptional and splicing dysregulation spanning diverse somatosensory pathways. Our results characterize significant peripheral neuropathy in a representative SCA3 mouse model, providing a strong foundation for future mechanistic and therapeutic studies of peripheral neuropathy in SCA3.
2026-05-11 | GSE320100 | GEO
Project description:Diabetic neuropathy (DN) is a common complication of diabetes. While multiple pathways are implicated in the pathophysiology of DN, there are no specific treatments for DN and currently it is not possible to predict DN onset or progression. To examine gene expression signatures related to DN, microarray experiments were performed on a subset of human sural nerves collected during a 52-week clinical trial of acetyl-L-carnitine. A series of bioinformatics analyses analyzed differential gene expression and identified gene networks and pathways potentially responsible for the progression of DN. We identified 532 differentially expressed genes (DEGs) between patient samples with progressing or non-progressing DN, which were functionally enriched in pathways involving defense and inflammatory responses and lipid metabolism. A literature-derived co-citation network of the DEGs revealed gene sub-networks centered on apolipoprotein E (APOE), jun oncogene (JUN), leptin (LEP), serpin peptidase inhibitor E Type 1 (SERPINE1) and peroxisome proliferator-activated receptor gamma (PPARG). DEGs were used to predict DN progression in a test set of patients. Ridge-regression classification models with 14 DEGs achieved an overall accuracy of 92%, correctly classifying the progression status of 11 out of 12 patients. To our knowledge, this is the first study to identify transcriptional changes associated with DN progression in human sural nerves biopsies and describe their potential utility for molecular prediction of DN. Our results identifying the unique gene signature of patients with progressive DN will facilitate the development of new mechanism-based diagnostics and therapies. 18 progressor and 17 non-progressor at 52 weeks
2010-09-24 | E-GEOD-24290 | biostudies-arrayexpress
Project description:Analysis of ex vivo isolated lymphatic endothelial cells from the dermis of patients to define type 2 diabetes-induced changes. Results preveal aberrant dermal lymphangiogenesis and provide insight into its role in the pathogenesis of persistent skin inflammation in type 2 diabetes. The ex vivo dLEC transcriptome reveals a dramatic influence of the T2D environment on multiple molecular and cellular processes, mirroring the phenotypic changes seen in T2D affected skin. The positively and negatively correlated dLEC transcripts directly cohere to prolonged inflammatory periods and reduced infectious resistance of patients´ skin. Further, lymphatic vessels might be involved in tissue remodeling processes during T2D induced skin alterations associated with impaired wound healing and altered dermal architecture. Hence, dermal lymphatic vessels might be directly associated with T2D disease promotion. Global gene expression profile of normal dermal lymphatic endothelial cells (ndLECs) compared to dermal lymphatic endothelial cells derived from type 2 diabetic patients (dLECs).Quadruplicate biological samples were analyzed from human lymphatic endothelial cells (4 x diabetic; 4 x non-diabetic). subsets: 1 disease state set (dLECs), 1 control set (ndLECs)
2012-06-01 | E-GEOD-38396 | biostudies-arrayexpress
Project description:Transcriptional profiling of diabetic peripheral neuropathy patients, diabetic patients, and healthy participants
| PRJNA378558 | ENA
Project description:Overall, 55 sural nerve biopsies from patients with CIDP (n=36) and CIDP-variants (n=18) were included into the study. Immunohistochemical analysis of the sural nerve specimens showed an aberrant deposition of terminal complement complex C5b-9 on endoneural capillaries in 52 (94%) of patients in addition to endoneural CD8+ T cell- and CD68+ macrophage infiltration. Gene expression studies showed an increase of factors C3 and C6 compared to NDCs with no difference in regard to clinical phenotype, whereas levels of IL6 or TNF-alpha were not significantly elevated. Our proteomic profiling approach revealed the statistically significant dysregulation of 50 proteins, which based on their respective functions suggest altered mitochondrial activity, perturbed cytoskeleton, and increased oxidative stress. The majority of patients with high to moderate complement deposition presented with a progressive disease course, however without any correlation with disease severity as measured by INCAT or MRC at baseline and follow-up. Our combined data supports the role of complement in CIDP pathogenesis. Based on these findings, we propose to further evaluate complement inhibition therapies as new targeted treatment option for patients with CIDP.
2025-09-29 | PXD056286 | Pride
Project description:Diabetic neuropathy (DN) is a common complication of diabetes. While multiple pathways are implicated in the pathophysiology of DN, there are no specific treatments for DN and currently it is not possible to predict DN onset or progression. To examine gene expression signatures related to DN, microarray experiments were performed on a subset of human sural nerves collected during a 52-week clinical trial of acetyl-L-carnitine. A series of bioinformatics analyses analyzed differential gene expression and identified gene networks and pathways potentially responsible for the progression of DN. We identified 532 differentially expressed genes (DEGs) between patient samples with progressing or non-progressing DN, which were functionally enriched in pathways involving defense and inflammatory responses and lipid metabolism. A literature-derived co-citation network of the DEGs revealed gene sub-networks centered on apolipoprotein E (APOE), jun oncogene (JUN), leptin (LEP), serpin peptidase inhibitor E Type 1 (SERPINE1) and peroxisome proliferator-activated receptor gamma (PPARG). DEGs were used to predict DN progression in a test set of patients. Ridge-regression classification models with 14 DEGs achieved an overall accuracy of 92%, correctly classifying the progression status of 11 out of 12 patients. To our knowledge, this is the first study to identify transcriptional changes associated with DN progression in human sural nerves biopsies and describe their potential utility for molecular prediction of DN. Our results identifying the unique gene signature of patients with progressive DN will facilitate the development of new mechanism-based diagnostics and therapies.
2010-09-24 | GSE24290 | GEO
Project description: Not available
| S-EPMC2531291 | biostudies-literature