Andrew J Griffith

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models
    Andrew J Griffith
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, 5 Research Court, Rockville, Maryland 20850 3320, USA
    Hear Res 281:11-7. 2011
  2. pmc Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice
    Tomoyuki Iwata
    Department of Otorhinolaryngology Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Aichi 466 8550, Japan
    Thyroid Res 4:10. 2011
  3. pmc Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
    Saima Riazuddin
    Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head and Neck Surgery, Cincinnati Children s Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA
    BMC Med Genet 12:21. 2011
  4. pmc SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct
    Taku Ito
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850 3320, USA
    Cell Physiol Biochem 28:545-52. 2011
  5. pmc SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
    Kelly A King
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, USA
    Laryngoscope 120:384-9. 2010
  6. doi request reprint Hereditary hearing loss with thyroid abnormalities
    Byung Yoon Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 70:43-9. 2011
  7. pmc Otolaryngologic markers for the early diagnosis of Turner syndrome
    Tomoko Makishima
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850 3320, USA
    Int J Pediatr Otorhinolaryngol 73:1564-7. 2009
  8. doi request reprint Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    J Med Genet 48:767-75. 2011
  9. pmc Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
    Byung Yoon Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, Maryland, USA
    J Clin Invest 121:4516-25. 2011
  10. pmc Topology of transmembrane channel-like gene 1 protein
    Valentina Labay
    Molecular Biology and Genetics Section, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Biochemistry 49:8592-8. 2010

Collaborators

Detail Information

Publications13

  1. pmc Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models
    Andrew J Griffith
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, 5 Research Court, Rockville, Maryland 20850 3320, USA
    Hear Res 281:11-7. 2011
    ..The enlargement is driven by fluid secretion in the vestibular labyrinth and a failure of fluid absorption in the embryonic endolymphatic sac. Elucidating the mechanism of hearing loss may offer clues to potential therapeutic strategies...
  2. pmc Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice
    Tomoyuki Iwata
    Department of Otorhinolaryngology Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Aichi 466 8550, Japan
    Thyroid Res 4:10. 2011
    ..abstract:..
  3. pmc Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
    Saima Riazuddin
    Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head and Neck Surgery, Cincinnati Children s Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA
    BMC Med Genet 12:21. 2011
    ..Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia...
  4. pmc SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct
    Taku Ito
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850 3320, USA
    Cell Physiol Biochem 28:545-52. 2011
    ..In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance...
  5. pmc SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
    Kelly A King
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, USA
    Laryngoscope 120:384-9. 2010
    ..Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA)...
  6. doi request reprint Hereditary hearing loss with thyroid abnormalities
    Byung Yoon Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 70:43-9. 2011
    ..Treatment of PDS is focused upon rehabilitation of hearing loss, and surveillance and management of goiter and, less commonly, hypothyroidism...
  7. pmc Otolaryngologic markers for the early diagnosis of Turner syndrome
    Tomoko Makishima
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850 3320, USA
    Int J Pediatr Otorhinolaryngol 73:1564-7. 2009
    ..To identify and characterize otolaryngologic markers for the early diagnosis of Turner syndrome (TS)...
  8. doi request reprint Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    J Med Genet 48:767-75. 2011
    ..The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth...
  9. pmc Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
    Byung Yoon Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, Maryland, USA
    J Clin Invest 121:4516-25. 2011
    ..These data collectively provide mechanistic insight into hearing loss caused by SLC26A4 mutations and establish a model for further studies of EVA-associated hearing loss...
  10. pmc Topology of transmembrane channel-like gene 1 protein
    Valentina Labay
    Molecular Biology and Genetics Section, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Biochemistry 49:8592-8. 2010
    ..Our study is the first to demonstrate that TMC1 is a transmembrane protein. The topologic organization revealed by this study shares some features with that of the shaker-TRP superfamily of ion channels...
  11. pmc Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes
    Yoshiyuki Kawashima
    Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, Maryland 20850 3320, USA
    J Clin Invest 121:4796-809. 2011
    ..Our data also suggest that persistent TMC2 expression in vestibular hair cells may preserve vestibular function in humans with hearing loss caused by TMC1 mutations...
  12. pmc Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
    Byung Yoon Choi
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Hum Mutat 30:599-608. 2009
    ..However, these alleles could be pathogenic in trans configuration with a mutant allele in Pendred syndrome...
  13. ncbi request reprint Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome
    Kelly A King
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ear Hear 28:831-41. 2007
    ..The purpose of this study was to describe the auditory phenotype in a large group of individuals with Turner Syndrome, with analysis focusing on hearing loss and age, as well as the phenotypic relationship to karyotype variation...