Andrew J Griffith

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc A noncoding point mutation of Zeb1 causes multiple developmental malformations and obesity in Twirler mice
    Kiyoto Kurima
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, United States of America
    PLoS Genet 7:e1002307. 2011
  2. 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
  3. 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
  4. 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
  5. ncbi request reprint Modification of human hearing loss by plasma-membrane calcium pump PMCA2
    Julie M Schultz
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 352:1557-64. 2005
  6. 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
  7. 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
  8. ncbi request reprint PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Hum Mol Genet 12:3215-23. 2003
  9. 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
  10. doi request reprint Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct
    Parna Chattaraj
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
    JAMA Otolaryngol Head Neck Surg 139:907-13. 2013

Detail Information

Publications49

  1. pmc A noncoding point mutation of Zeb1 causes multiple developmental malformations and obesity in Twirler mice
    Kiyoto Kurima
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, United States of America
    PLoS Genet 7:e1002307. 2011
    ..This is a novel mechanism underlying disorders of hearing or balance...
  2. 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...
  3. 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:..
  4. 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...
  5. ncbi request reprint Modification of human hearing loss by plasma-membrane calcium pump PMCA2
    Julie M Schultz
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 352:1557-64. 2005
    ....
  6. 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)...
  7. 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...
  8. ncbi request reprint PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Hum Mol Genet 12:3215-23. 2003
    ..Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function...
  9. 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...
  10. doi request reprint Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct
    Parna Chattaraj
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
    JAMA Otolaryngol Head Neck Surg 139:907-13. 2013
    ....
  11. ncbi request reprint A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    Tamar Ben-Yosef
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 348:1664-70. 2003
  12. ncbi request reprint Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain
    Tomoko Makishima
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850 3320, Maryland, USA
    Am J Med Genet A 143:1592-8. 2007
    ..These results will facilitate the counseling of patients with these phenotypes and EYA4 mutations...
  13. ncbi request reprint The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    J Neurosci 26:7022-34. 2006
    ..Protocadherin-15 is therefore associated with the tip-link complex and may be an integral component of this structure and/or required for its formation...
  14. ncbi request reprint Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    Inna A Belyantseva
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Nat Cell Biol 7:148-56. 2005
    ..The interaction of myosin-XVa and whirlin is therefore a key event in hair-bundle morphogenesis...
  15. 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...
  16. 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...
  17. 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...
  18. pmc Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
    Atteeq U Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 94:144-52. 2014
    ..Although the causal relationship between genotype and phenotype is not presently understood, our findings, combined with published data, indicate that recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness. ..
  19. ncbi request reprint Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss
    Tomoko Makishima
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Otol Neurotol 25:714-9. 2004
    ..To characterize the auditory and vestibular phenotype of autosomal dominant nonsyndromic DFNA36 hearing loss...
  20. ncbi request reprint Genetic modifiers of hereditary hearing loss
    Saima Riazuddin
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:224-9. 2002
  21. pmc Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36
    Yoshihiro Noguchi
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850 3320, USA
    Genetics 173:2111-9. 2006
    ..The polygenic basis of outer hair cell degeneration in Beethoven mice provides a model system for the dissection of common, complex hearing loss phenotypes, such as presbycusis, that involve outer hair cell degeneration in humans...
  22. ncbi request reprint Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype
    Karl B Shpargel
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Acta Otolaryngol 124:242-8. 2004
    ....
  23. 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...
  24. ncbi request reprint Clinical presentation of DFNB12 and Usher syndrome type 1D
    Julie M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:145-52. 2002
  25. pmc Mutations of MYO6 are associated with recessive deafness, DFNB37
    Zubair M Ahmed
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 72:1315-22. 2003
    ....
  26. ncbi request reprint Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 110:527-31. 2002
    ..We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18...
  27. 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...
  28. pmc Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
    Sadaf Naz
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA
    Am J Hum Genet 71:632-6. 2002
    ..TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene...
  29. pmc Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
    Nat Genet 40:1335-40. 2008
    ..We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents...
  30. ncbi request reprint Recent advances in the understanding of syndromic forms of hearing loss
    Thomas B Friedman
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA
    Ear Hear 24:289-302. 2003
  31. pmc Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome
    Andrew J Griffith
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
    Laryngoscope 116:1404-8. 2006
    ..The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26)...
  32. ncbi request reprint Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis
    Kiyoto Kurima
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA
    Genomics 82:300-8. 2003
    ....
  33. 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...
  34. ncbi request reprint Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts
    Shannon P Pryor
    Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Arch Otolaryngol Head Neck Surg 131:388-92. 2005
    ..To determine whether congenital cytomegalovirus (CMV) infection is an etiologic factor in the pathogenesis of enlarged vestibular aqueducts (EVA)...
  35. ncbi request reprint Genetic insights into the morphogenesis of inner ear hair cells
    Gregory I Frolenkov
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Nat Rev Genet 5:489-98. 2004
  36. 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)...
  37. pmc Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction
    Taku Ito
    Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Neurobiol Dis 66:53-65. 2014
    ..Our strategy to generate a hypomorphic mouse model utilizing the tet-on system will be applicable to other diseases in which a hypomorphic allele is needed to model the human phenotype. ..
  38. pmc Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts
    Anne C Madeo
    Social and Behavioral Research Branch, National Human GenomeResearch Institute, National Institutes of Health, Bethesda, MD 20892 3320, USA
    Arch Otolaryngol Head Neck Surg 135:670-6. 2009
    ..To evaluate thyroid structure and function in patients with enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss...
  39. pmc Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans
    Elizabeth Carroll Driver
    Section on Developmental Neuroscience, National Institute on Deafness and Other Communication Disorders, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Neurosci 28:7350-8. 2008
    ..These results suggest that HH signaling plays a key role in the specification, size, and location of the prosensory domain, and therefore of hair cells, within the cochlea...
  40. pmc Cell type-specific transcriptome analysis reveals a major role for Zeb1 and miR-200b in mouse inner ear morphogenesis
    Ronna Hertzano
    Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland, Baltimore, Maryland, United States of America
    PLoS Genet 7:e1002309. 2011
    ..Our approach can be employed to decipher additional complex regulatory networks underlying other hearing and balance mouse mutants...
  41. ncbi request reprint Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
    Linda M Peters
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Mol Genet 11:2877-85. 2002
    ..Northern blot analyses and in situ hybridization studies show that mouse Tfcp2l3 is expressed in many epithelial tissues, including cells lining the cochlear duct, at embryonic day 18.5 and postnatal day 5...
  42. ncbi request reprint Stereocilia: the long and the short of it
    Inna A Belyantseva
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Trends Mol Med 9:458-61. 2003
    ..Identifying these protein partners will advance our understanding of the development of stereocilia and their function as mechanosensory organelles indispensable for normal hearing...
  43. pmc Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing
    Shin ichiro Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Cell 141:786-98. 2010
    ..Thus, F-actin bundling by TRIOBP provides durability and rigidity for normal mechanosensitivity of stereocilia and may contribute to resilient cytoskeletal structures elsewhere...
  44. ncbi request reprint Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder
    Tomoko Makishima
    Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 118:29-34. 2005
    ..These data provide functional evidence that DFNA9 is probably not caused by COCH haploinsufficiency, but via a dominant negative or gain-of-function effect, in nonsensory regions of the inner ear...
  45. ncbi request reprint Human nonsyndromic sensorineural deafness
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Annu Rev Genomics Hum Genet 4:341-402. 2003
    ..The state of knowledge concerning their biological roles is discussed in the context of the controversies within an evolving understanding of the intricate molecular machinery of the inner ear...
  46. ncbi request reprint Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice
    Yvonne M Szymko-Bennett
    Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Hear Res 175:178-82. 2003
    ..We conclude that Stickler syndrome and Marshall syndrome mutations in COL11A1 cause hearing loss via dominant negative effects upon wild-type fibrillar collagen polypeptides in the extracellular matrices of the cochlea...
  47. ncbi request reprint Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann-Pick Disease, Type C
    Kelly A King
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA
    J Assoc Res Otolaryngol 15:529-41. 2014
    ..These findings add unique perspective to the pathophysiology of NPC disease and suggest that hearing loss is an early and sensitive marker of disease progression. ..
  48. ncbi request reprint Stickler syndrome: clinical characteristics and diagnostic criteria
    Peter S Rose
    Warren Magnuson Grant Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 138:199-207. 2005
    ....
  49. ncbi request reprint Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
    Kiyoto Kurima
    Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
    Nat Genet 30:277-84. 2002
    ..Tmc1 mRNA is expressed in hair cells of the postnatal mouse cochlea and vestibular end organs and is required for normal function of cochlear hair cells...