A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Samankaltaisia teoksia

• Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss
  Tekijä: Booth, Kevin T, et al.
  Julkaistu: (2020)
• SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
  Tekijä: Kim, Hee-Jin, et al.
  Julkaistu: (2013)
• Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder
  Tekijä: Bae, Seung-Hyun, et al.
  Julkaistu: (2014)
• Structural and biophysical characterization of the type VII collagen vWFA2 subdomain leads to identification of two binding sites
  Tekijä: Gebauer, Jan M., et al.
  Julkaistu: (2020)
• Hearing and vestibular deficits in the Coch(−/−) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder
  Tekijä: Jones, Sherri M., et al.
  Julkaistu: (2010)