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Variants of OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder

By Wang Jian, Fan Ying-ying, Wang Shu-juan, Liang Peng-Fei, Wang Jin-ling and Qiu Jian-hua
Topics: Research Article
Publisher: Public Library of Science
OAI identifier: oai:pubmedcentral.nih.gov:3174136
Provided by: PubMed Central

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Citations

  1. (2002). [Auditory neuropathy].
  2. (2007). A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
  3. (2008). A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
  4. (1999). A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
  5. (2003). Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
  6. (1996). Auditory neuropathy.
  7. (2003). Auditory neuropathy/ dys-synchrony: diagnosis and management.
  8. (2004). Auditory neuropathy/auditory dys-synchrony in school children with hearing loss: frequency of occurrence.
  9. (2008). Calcium- and otoferlin-dependent exocytosis by immature outer hair cells.
  10. (2005). Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
  11. (1999). Clinical findings for a group of infants and young children with auditory neuropathy.
  12. (1999). Cochlear implantation in auditory neuropathy.
  13. (2005). Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
  14. (2007). Differential Audiological Assessment of Patients with Auditory Neuropathy.
  15. (2008). Editorial: ‘auditory neuropathy’ and cochlear implantation - myths and facts.
  16. (2010). Five new OTOF gene mutations and auditory neuropathy.
  17. (2009). Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
  18. (2010). Genetic heterogeneity in human disease.
  19. (2009). Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
  20. (2007). In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains.
  21. (2007). Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
  22. (2007). M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
  23. (2006). Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
  24. (2010). Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
  25. (2009). Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
  26. (2003). Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
  27. (2007). Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
  28. (2009). Novel OTOF mutations in Brazilian patients with auditory neuropathy.
  29. (2000). OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
  30. (2006). Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
  31. (2009). Permanent bilateral sensory and neural hearing loss of children after neonatal intensive care because of extreme prematurity: a thirty-year study.
  32. (2004). Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
  33. (2002). Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
  34. (2006). Results of cochlear implantation in two children with mutations in the OTOF gene.
  35. (2010). Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
  36. (2008). Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants.
  37. (2008). The frequency of auditory neuropathy detected by universal newborn hearing screening program.
  38. (2010). The genetic basis of auditory neuropathy spectrum disorder (ANSD).
  39. (2011). The Mitochondrial Connection in Auditory Neuropathy.
  40. (2009). The molecular architecture of ribbon presynaptic terminals.
  41. (2000). The varieties of auditory neuropathy.
  42. (2007). Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.