CDH23 | bioCADDIE Data Discovery Index
Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Displaying 11 of 11 results for "CDH23"
i
  1. Structure of the N-terminus of Cadherin 23 PDB

    ID: PDB:3MVS

    Description: Cadherin-23

    gene.name: Cdh23
  2. PRJEB2644 BioProject

    Keywords: Other

    Access Type: download

    dataset.description: s Project. We identified deleterious mutations in CDH23, MYO15A, TECTA, TMC1, and WFS1. The critical mutation(s) of the probands co-segregated with hearing loss. Screening of additional families in the relevant population was performed. TMC1 p.S647P proved to be a founder allele, contributing to 34% of hearing loss in the Moroccan Jewish population. Conclusions: Targeted capture and sequencing of genomic DNA from persons with inherited hearing loss offers an effective screen for mutations. Critical mutations were identified in 6 probands and their families, leading to the identification of the causative alleles in 20 additional probands and their families. The integration of genomic analysis into early clinical diagnosis of hearing loss will enable prediction of related phenotypes and enhance rehabilitation. Characterization of the proteins encoded by these genes will enable an understanding of the biological mechanisms involved in the pathophysiology of hearing loss."...
  3. CRYSTAL STRUCTURE OF NONSYNDROMIC DEAFNESS (DFNB12) ASSOCIATED MUTANT D124G OF MOUSE CADHERIN-23 EC1-2 PDB

    ID: PDB:2WD0

    Description: CADHERIN-23

  4. Crystal structure of mouse Cadherin-23 EC1-2 and Protocadherin-15 EC1-2 splice variant PDB

    ID: PDB:4XXW

    Description: Protocadherin-15, Cadherin-23

    gene.name: Cdh23
  5. CRYSTAL STRUCTURE OF DEAFNESS ASSOCIATED MUTANT MOUSE CADHERIN-23 EC1- 2S70P AND PROTOCADHERIN-15 EC1-2 FORM I PDB

    ID: PDB:4AQE

    Description: CADHERIN-23, PROTOCADHERIN-15

    dataset.keywords: CDH23
  6. Solution structure of harmonin N terminal domain in complex with a exon68 encoded peptide of cadherin23 PDB

    ID: PDB:2LSR

    Description: Harmonin, peptide from Cadherin-23

    gene.name: CDH23, Ush1D
  7. CRYSTAL STRUCTURE OF MOUSE CADHERIN-23 EC1-2 AND PROTOCADHERIN-15 EC1- 2 FORM I PDB

    ID: PDB:4APX

    Description: CADHERIN-23, PROTOCADHERIN-15

    dataset.keywords: CDH23
  8. CRYSTAL STRUCTURE OF DEAFNESS ASSOCIATED MUTANT MOUSE CADHERIN-23 EC1- 2D124G AND PROTOCADHERIN-15 EC1-2 FORM I PDB

    ID: PDB:4AQA

    Description: CADHERIN-23, PROTOCADHERIN-15

    dataset.keywords: CDH23
  9. CRYSTAL STRUCTURE OF MOUSE CADHERIN-23 EC1-2 AND PROTOCADHERIN-15 EC1- 2, FORM I 2.2A. PDB

    ID: PDB:4AXW

    Description: CADHERIN-23, PROTOCADHERIN-15

    dataset.keywords: CDH23
  10. CAD23_RAT UniProt:Swiss-Prot

    ID: P58365

    Description: Cadherin-23 Extracellular Helical Cytoplasmic Cadherin 1 Cadherin 2 Cadherin 3 Cadherin 4 Cadherin 5 Cadherin 6 Cadherin 7 Cadherin 8 Cadherin 9 Cadhe...

    gene.name: Cdh23
  11. Study on the consequences of prenatal famine exposure on DNA methylation. OmicsDI

    ID: EGAS00001000668

    Date Released:

    Description: xplorative analyses of 6 P-DMRs mapping to SMAD7, CDH23, INSR, RFTN1, CPT1A and KLF13 highlighted the critical role of gestational timing, indicated that differential methylation extended along pathways involved in growth, development and metabolism, and suggested associations with birth weight and serum LDL cholesterol in adulthood and confirmed an enhancer function for the INSR and CPT1A P-DMRs. Our results point toward a link between prenatal malnutrition and epigenetic modulation of growth and lipid metabolism that may underlie the adverse metabolic phenotype of exposed individuals in later life....


Displaying 11 of 11 results for "CDH23"