Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA268995 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Pediatric investigation for genetic factors linked to renal progression (PediGFR)
| PRJNA215009 | ENA
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 of Genetic Factors Linked with Renal Progression (PediGFR)
| PRJNA268994 | ENA
Project description:PediGFR /ESCAPE Pediatric Investigation of Genetic Factors Linked with Renal Progression - ESCAPE study data
| PRJNA268996 | 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:To facilitate the search for genetic modifiers that modulate ARPKD disease progression and severity, we sought to generate a congenic rat model that carries the PCK Pkhd1 mutation but is resistant to the development of ARPKD. We transferred the Pkhd1 mutation from the PCK rat onto the genetic background of the FHH (Fawn-Hooded Hypertensive) rat. This newly developed strain, called FHH.Pkhd1, showed significant amelioration of renal disease, and delayed onset of biliary abnormalities. To initiate the exploration for genes and pathways that modulate susceptibility to renal cystogenesis, we investigated transcriptional changes in kidneys from PCK, SD, FHH and FHH.Pkhd1 rats by microarray analysis. Both kidneys were harvested from 6 animals for each strain; SD, FHH, PCK, FHH.Pkhd1 (FHH.PCK-(D9Rat35-D9Rat70)/Mcwi, RGD ID 5147594) at 30 days of age. The kidneys were bisected and stored in RNAlater at 4C for 24hrs. RNA was extracted using the Trizol (Invitrogen) method according to manufacturer’s instructions. RNA from each strain was pooled together, reverse transcribed, and hybridized to three Affymetrix Rat 230 arrays (Affymetrix).
2012-01-01 | E-GEOD-33056 | biostudies-arrayexpress
Project description:To identify novel oncogenic pathways in T-cell acute lymphoblastic leukemia (T-ALL), we combined expression profiling of 117 pediatric patient samples and detailed molecular cytogenetic analyses including the Chromosome Conformation Capture on Chip (4C) method. Two T-ALL subtypes were identified that lacked rearrangements of known oncogenes. One subtype associated with cortical arrest, expression of cell cycle genes and ectopic NKX2-1 or NKX2-2 expression for which rearrangements were identified. The second subtype associated with immature T-cell development and high expression of the MEF2C transcription factor as consequence of rearrangements of MEF2C, transcription factors that target MEF2C or MEF2C-associated cofactors. We propose NKX2-1, NKX2-2 and MEF2C as T-ALL oncogenes that are activated by various rearrangements. This study includes 117 pediatric T-ALL samples of which 92 samples are available at GSE10609. In addition, this study includes 7 normal bone marrow control samples
2011-04-11 | E-GEOD-26713 | biostudies-arrayexpress