MRPL48 | bioCADDIE Data Discovery Index
Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Displaying 19 of 19 results for "MRPL48"
i
  1. RM48_BOVIN UniProt:Swiss-Prot

    ID: Q2YDI5

    Description: Mitochondrion 39S ribosomal protein L48, mitochondrial N6-succinyllysine

  2. Structure of the large subunit of the mammalian mitoribosome, part 2 of 2 PDB

    ID: PDB:4V1A

    Description: MITORIBOSOMAL PROTEIN ML37, MRPL37, MITORIBOSOMAL PROTEIN ML38, MRPL38, MITORIBOSOMAL PROTEIN ML39, MRPL39,...

  3. Maternal obesity induced mouse embryonic defects derive from Stella insufficiency in oocytes BioProject

    ID: PRJNA380689

    Keywords: Epigenomics

    Access Type: download

    dataset.description: ch 294 were hypomethylated (hypo-DMRs; 71.4%) and 118 were hypermethylated (hyper-DMRs; 28.6%) (Fig. 6A and 6B), showing a predominance of hypo-DMRs. Furthermore, we show that hyper-DMRs are significantly depleted from CGI, but enriched in short interspersed elements (SINEs) and non-CGI regions. Strikingly, hypo-DMRs are specifically depleted from SINEs, with a concurrent enrichment in DNA transposons. Overall design: Examinati...
  4. Genomic Sequencing of Cervical Cancers dbGaP

    ID: phs000600.v1.p1

    Description: ere, we report whole exome sequencing analysis of 118 cervical carcinoma-normal paired samples from patients in Norway and Mexico, as well as transcriptome sequencing of 80 cases and whole genome sequencing of 13 tumor-normal pairs. Novel somatic mutations include recurrent E322K substitutions in the MAPK1 gene encoding the ERK2 kinase and inactivating mutations in the HLA-B gene. In addition, recurrent somatic mutations in FBXW7, EP300, and NFE2L2 are novel in the context of primary cervical carcinomas. Analysis of HPV integration sites revealed recurrent integration into the RAD51B locus as well as co-occurrence of HPV genome integration and copy number gains within several genomic loci. These findings shed new light on the pa...

    Study Types: Case-Control

  5. The Collaborative Study on the Genetics of Alcoholism (COGA) dbGaP

    ID: phs000763.v1.p1

    Description: ay 12.VI to genotype 2,282 subjects selected from 118 densely affected families. Genotyping was performed at the Genome Technology Access Center at Washington University School of Medicine in St. Louis. In addition, we also included genotypes for subjects (n=275 subjects) from these 118 families who were genotyped in a previous case-control GWAS using the Illumina 1M array. For quality control purposes, 51 of the 275 subjects were genotyped again on the Illumina Human OmniExpress array at the Washington University School of Medicine core facility....

    Study Types: Family

  6. NIDDK Gene discovery in FSGS dbGaP

    ID: phs000777.v1.p1

    Description: , we have ascertained and carefully characterized 118 families with familial FSGS. We have screened the remainder of our families for mutations in genes known to cause FSGS and identified the causal mutations in an additional 6 kindreds; the genetic basis of disease in the remaining 111 families is unknown. The objective of this proposal is to use this valuable and unique family resource to systematically identify causal genes for familial FSGS. Limitations of current conventional linkage and positional cloning approaches include their requirement for large, multiplex families. In addition, narrowing candidate areas in traditional linkage analysis ...

    Study Types: Case Set

  7. Framingham Cohort dbGaP

    ID: phs000007.v28.p10

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v28.p10
  8. Framingham Cohort dbGaP

    ID: phs000007.v22.p8

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v22.p8
  9. Framingham Cohort dbGaP

    ID: phs000007.v20.p8

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v20.p8
  10. Framingham Cohort dbGaP

    ID: phs000007.v25.p9

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v25.p9
  11. Framingham Cohort dbGaP

    ID: phs000007.v17.p6

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v17.p6
  12. Framingham Cohort dbGaP

    ID: phs000007.v27.p10

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v27.p10
  13. Framingham Cohort dbGaP

    ID: phs000007.v29.p10

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v29.p10
  14. Framingham Cohort dbGaP

    ID: phs000007.v21.p8

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v21.p8
  15. Framingham Cohort dbGaP

    ID: phs000007.v23.p8

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v23.p8
  16. Framingham Cohort dbGaP

    ID: phs000007.v26.p10

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v26.p10
  17. Framingham Cohort dbGaP

    ID: phs000007.v18.p7

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v18.p7
  18. Framingham Cohort dbGaP

    ID: phs000007.v19.p7

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v19.p7
  19. Framingham Cohort dbGaP

    ID: phs000007.v24.p9

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

    access.landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v24.p9

Displaying 19 of 19 results for "MRPL48"