Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA268996 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Pediatric investigation for genetic factors linked to renal progression (PediGFR)
| PRJNA215010 | ENA
Project description:Pediatric Investigation of Genetic Factors Linked with Renal Progression (PediGFR)
| PRJNA268993 | ENA
Project description:Pediatric investigation for genetic factors linked to renal progression (PediGFR)
| PRJNA215009 | ENA
Project description:Pediatric Investigation of Genetic Factors Linked with Renal Progression (PediGFR)
| PRJNA268994 | ENA
Project description:PediGFR /4C Pediatric Investigation of Genetic Factors Linked with Renal Progression - 4C study data
| PRJNA268995 | ENA
Project description:<p>The Pediatric Investigation for Genetic Factors Associated with Renal Progression (PediGFR) (RO1-DK082394) is an international collaborative study among three large prospective cohort studies of children with chronic kidney disease. The participating parent cohort studies are the Chronic Kidney Disease in Children (CKiD), the Effect of Strict Blood Pressure Control and ACE Inhibition on CRF Progression in Pediatric Patients (ESCAPE), and the Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study. In these cohorts, pediatric subjects with CKD have been prospectively followed with standardized measurements for renal progression. The dbGaP data upload will utilize the structure of sub-studies to include the genotype and baseline phenotype for the three cohorts, as well as the RBC trait and anemia data for a sub-study under PI Susan Furth: Role of Genetic Variation in the Anemia of Chronic Kidney Disease (K24DK078737). </p> <p>In brief PediGFR is a prospective study of children with chronic kidney disease (CKD) to determine genetic factors associated with kidney function measured by the estimated glomerular filtration rate (eGFR) by Schwartz equation.</p> <p><b>The PediGFR_v2 Cohort is utilized in the following dbGaP sub-studies.</b> To view genotypes, other molecular data, and derived variables collected in these sub-studies, please click on the following sub-studies below or in the "Sub-studies" box located on the right hand side of this top-level study page <a href="study.cgi?study_id=phs000842">phs000842</a> PediGFR_v2 Cohort. <ul> <li><a href="study.cgi?study_id=phs000843">phs000843</a> 4C</li> <li><a href="study.cgi?study_id=phs000650">phs000650</a> CKiD</li> <li><a href="study.cgi?study_id=phs000844">phs000844</a> ESCAPE</li> </ul> </p>
| phs000842 | dbGaP
Project description:<p>The Pediatric Investigation for Genetic Factors Associated with Renal Progression (PediGFR) (RO1-DK082394) is an international collaborative study among three large prospective cohort studies of children with chronic kidney disease. The participating parent cohort studies are the "Chronic Kidney Disease in Children (CKiD)", the "Effect of Strict Blood Pressure Control and ACE Inhibition on CRF Progression in Pediatric Patients (ESCAPE)", and the "Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C)" study. In these cohorts, pediatric subjects with CKD have been prospectively followed with standardized measurements for renal progression. The current version of the upload includes the genotype and baseline phenotype for the CKiD cohort. In brief the CKiD study is a prospective study of children with chronic kidney disease (CKD) between the ages of 1 year to 16 years of age and an estimated glomerular filtration rate (eGFR) by Schwartz equation between 30 and 75 ml/min per 1.73m<sup>2</sup>.</p> <p>Included in this upload are the phenotypic data for anemia traits utilized for the sub-study, "Role of Genetic Variation in the Anemia of Chronic Kidney Disease" (K24DK078737), with the RBC trait and anemia data pertaining to CKiD as well.</p>
| phs000650.v1.p1 | EGA
Project description:Tacrolimus (TAC) is an immunosuppressant widely used in kidney transplantation. TAC displays considerable inter-individual variability in pharmacokinetics (PK). Genetic and clinical factors play important roles in TAC PK. To define genetic factors associated with tacrolimus blood trough concentration, we performed a genome-wide association study of renal transplant samples from 251 Chinese renal transplant recipients. We identified 23 single nucleotide polymorphisms (SNPs) related to TAC PK variability. All 23 genome-wide significant SNPs (p<5E-8) were located on chromosome 7, including rs776746. These findings suggest that these SNPs may be associated with the unexlained TAC PK variability in renal transplant recipients and require further investigation.
2022-02-24 | GSE196772 | GEO
Project description:Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by GLA mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive glycosphingolipid accumulation. While α-Gal A activity is the diagnostic gold standard, its sensitivity is reduced in late-onset or heterozygous patients. Conventional biomarkers such as lyso-Gb3 provide only limited insight into disease progression and therapeutic response. Exosomes, as stable carriers of disease-specific proteins, may offer complementary biomarkers for early detection and longitudinal monitoring. Methods: 21 pediatric FD patients with confirmed GLA mutations were enrolled. Clinical, enzymatic, renal, and cardiac parameters were assessed. Plasma-derived exosomes were characterized by transmission electron microscopy and proteomic profiling. Differentially expressed proteins were identified by mass spectrometry, analyzed by GO/KEGG enrichment, and validated using RT-PCR, ELISA, and immunofluorescence in patient samples and Gla-/- mice. Results: Male patients showed markedly reduced α-Gal A activity and elevated lyso-Gb3 compared to females. Although overt renal and cardiac dysfunction was uncommon, several patients exhibited early abnormalities such as proteinuria, elevated LVMI, or increased cTnI. Proteomic analysis identified 2,553 proteins, of which 188 were differentially expressed. Fibrosis- and inflammation-related proteins including THBS1 and CFHR5 were upregulated, while protective factors such as APM1, SERPINA10, and CAB39 were downregulated. IGFBP3 was also elevated and closely linked to tissue remodeling. Enriched pathways involved PPAR/AMPK signaling, lipid metabolism, and complement activation. Conclusions: Exosomal proteomic profiling reveals early molecular signatures of cardiorenal involvement in pediatric FD. Key proteins such as THBS1, CFHR5, IGFBP3, APM1, and CAB39 show strong potential as biomarkers for risk stratification, disease monitoring, and therapeutic evaluation.
2025-12-08 | PXD069403 | Pride
Project description:A mosaic renal myeloid subtype linked to immune escape correlates with poor patient survival in clear cell renal cell carcinoma
| PRJNA423067 | ENA