Thomas B Friedman

Thomas B Friedman

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Exosomes mediate sensory hair cell protection in the inner ear.

J Clin Invest 2020 Feb 6. Epub 2020 Feb 6.

National Institute on Deafness and other Communication Disorders, NIH, Bethesda, United States of America.

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http://dx.doi.org/10.1172/JCI128867DOI Listing
February 2020

Growth factor and receptor malfunctions associated with human genetic deafness.

Clin Genet 2020 Jan 23;97(1):138-155. Epub 2019 Oct 23.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/cge.13641DOI Listing
January 2020

Inframe deletion of human is associated with deafness, vestibulopathy and vision impairment.

J Med Genet 2018 07 23;55(7):479-488. Epub 2018 Mar 23.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2017-105221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232856PMC
July 2018

Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.

Cell 2018 07 28;174(3):536-548.e21. Epub 2018 Jun 28.

Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Inflammation Program, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370011PMC
July 2018

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

J Clin Invest 2018 04 12;128(4):1509-1522. Epub 2018 Mar 12.

Laboratory of Molecular Genetics, Department of Otorhinolaryngology - Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1172/JCI97350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873844PMC
April 2018

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

PLoS Genet 2018 03 28;14(3):e1007297. Epub 2018 Mar 28.

Laboratory of Molecular Genetics, Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891075PMC
March 2018

Bipolar filaments of human nonmuscle myosin 2-A and 2-B have distinct motile and mechanical properties.

Elife 2018 02 8;7. Epub 2018 Feb 8.

Cell Biology and Physiology Center, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, United States.

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http://dx.doi.org/10.7554/eLife.32871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829915PMC
February 2018

Genetic causes of moderate to severe hearing loss point to modifiers.

Clin Genet 2017 Apr 6;91(4):589-598. Epub 2016 Oct 6.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, USA 20892.

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http://dx.doi.org/10.1111/cge.12856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5365349PMC
April 2017

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.

Mol Ther 2017 03 21;25(3):780-791. Epub 2017 Feb 21.

Neurotology Program, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, MD 20892, USA; Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363211PMC
March 2017

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Neurogenetics 2016 Apr 16;17(2):115-123. Epub 2016 Feb 16.

School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore 54590, Pakistan.

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http://dx.doi.org/10.1007/s10048-016-0477-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795972PMC
April 2016

Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.

Mol Ther 2016 Feb 26;24(1):17-25. Epub 2015 Aug 26.

Section on Sensory Cell Biology, NIDCD, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/mt.2015.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754541PMC
February 2016

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

J Med Genet 2015 Aug 4;52(8):548-52. Epub 2015 May 4.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1136/jmedgenet-2015-103023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529444PMC
August 2015

Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear.

Nat Commun 2015 Apr 21;6:6873. Epub 2015 Apr 21.

Laboratory of Molecular Genetics, Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ncomms7873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411292PMC
April 2015

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Invest Ophthalmol Vis Sci 2014 Nov 25;56(1):107-14. Epub 2014 Nov 25.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-15355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288141PMC
November 2014

Chaperone-enhanced purification of unconventional myosin 15, a molecular motor specialized for stereocilia protein trafficking.

Proc Natl Acad Sci U S A 2014 Aug 11;111(34):12390-5. Epub 2014 Aug 11.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, and

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http://dx.doi.org/10.1073/pnas.1409459111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151768PMC
August 2014

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

Hear Res 2013 Jun 22;300:1-9. Epub 2013 Mar 22.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Ct, 2A-19, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.heares.2013.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684051PMC
June 2013

Actin in hair cells and hearing loss.

Hear Res 2012 Jun 13;288(1-2):89-99. Epub 2011 Dec 13.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.heares.2011.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3403717PMC
June 2012

TRPA1-mediated accumulation of aminoglycosides in mouse cochlear outer hair cells.

J Assoc Res Otolaryngol 2011 Dec 31;12(6):729-40. Epub 2011 Aug 31.

Department of Physiology, University of Kentucky, Lexington, KY 40536-0298, USA.

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http://dx.doi.org/10.1007/s10162-011-0288-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214240PMC
December 2011

Molecular and clinical studies of X-linked deafness among Pakistani families.

J Hum Genet 2011 Jul 2;56(7):534-40. Epub 2011 Jun 2.

National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1038/jhg.2011.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143270PMC
July 2011

Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

Biochim Biophys Acta 2011 Apr 9;1812(4):536-43. Epub 2010 Sep 9.

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 702-701, South Korea.

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http://dx.doi.org/10.1016/j.bbadis.2010.09.001DOI Listing
April 2011

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

BMC Med Genet 2011 Feb 9;12:21. Epub 2011 Feb 9.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1186/1471-2350-12-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042908PMC
February 2011

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Am J Hum Genet 2011 Jan 23;88(1):19-29. Epub 2010 Dec 23.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and the Department of Otolaryngology, College of Medicine, University of Cincinnati, OH, 45229 USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014371PMC
January 2011

CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear.

J Assoc Res Otolaryngol 2010 Sep 13;11(3):407-18. Epub 2010 Apr 13.

Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland, 16 South Eutaw Street, Baltimore, MD 21201, USA.

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http://dx.doi.org/10.1007/s10162-010-0211-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914240PMC
September 2010

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Am J Hum Genet 2010 Mar 18;86(3):378-88. Epub 2010 Feb 18.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.01.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833391PMC
March 2010

Twinfilin 2 regulates actin filament lengths in cochlear stereocilia.

J Neurosci 2009 Dec;29(48):15083-8

Department of Otolaryngology-Head & Neck Surgery, Stanford University School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.2782-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823077PMC
December 2009

Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D.

Mol Vis 2009 Sep 12;15:1843-57. Epub 2009 Sep 12.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743805PMC
September 2009

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Am J Hum Genet 2009 Aug 30;85(2):273-80. Epub 2009 Jul 30.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725234PMC
August 2009

Gamma-actin is required for cytoskeletal maintenance but not development.

Proc Natl Acad Sci U S A 2009 Jun 3;106(24):9703-8. Epub 2009 Jun 3.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders/National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1073/pnas.0900221106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701000PMC
June 2009

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

J Hum Genet 2009 May 13;54(5):266-70. Epub 2009 Mar 13.

National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan.

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http://dx.doi.org/10.1038/jhg.2009.21DOI Listing
May 2009

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.

Mol Vis 2008 8;14:2227-36. Epub 2008 Dec 8.

National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2593751PMC
January 2009

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Hum Genet 2008 Oct 22;124(3):215-23. Epub 2008 Aug 22.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-008-0543-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716558PMC
October 2008

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Hum Mutat 2008 Apr;29(4):502-11

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1002/humu.20677DOI Listing
April 2008

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Hum Genet 2007 Dec 10;122(5):445-50. Epub 2007 Aug 10.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan.

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http://dx.doi.org/10.1007/s00439-007-0418-zDOI Listing
December 2007

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Hum Mutat 2007 Oct;28(10):1014-9

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850, Maryland, USA.

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http://dx.doi.org/10.1002/humu.20556DOI Listing
October 2007

A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.

Hum Genet 2007 Aug 29;122(1):103-11. Epub 2007 May 29.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://link.springer.com/10.1007/s00439-007-0384-5
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http://dx.doi.org/10.1007/s00439-007-0384-5DOI Listing
August 2007

Deafness and stria vascularis defects in S1P2 receptor-null mice.

J Biol Chem 2007 Apr 6;282(14):10690-6. Epub 2007 Feb 6.

Genetics of Development and Disease Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892-1821, USA.

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http://dx.doi.org/10.1074/jbc.M700370200DOI Listing
April 2007

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

Genomics 2007 Feb 17;89(2):197-206. Epub 2006 Oct 17.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ygeno.2006.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847387PMC
February 2007

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Hum Genet 2007 Feb 26;120(6):789-93. Epub 2006 Oct 26.

National Center of Excellence in Molecular Biology, University of Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, Pakistan.

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http://dx.doi.org/10.1007/s00439-006-0275-1DOI Listing
February 2007

Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system.

Eur J Neurosci 2007 Feb;25(4):999-1005

Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

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http://doi.wiley.com/10.1111/j.1460-9568.2007.05332.x
Publisher Site
http://dx.doi.org/10.1111/j.1460-9568.2007.05332.xDOI Listing
February 2007

Tricellulin is a tight-junction protein necessary for hearing.

Am J Hum Genet 2006 Dec 31;79(6):1040-51. Epub 2006 Oct 31.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/510022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698716PMC
December 2006

Auditory mechanotransduction in the absence of functional myosin-XVa.

J Physiol 2006 Nov 14;576(Pt 3):801-8. Epub 2006 Sep 14.

Department of Physiology, University of Kentucky, MS508, Chandler Medical Center, 800 Rose Street, Lexington, KY 40536, USA.

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http://dx.doi.org/10.1113/jphysiol.2006.118547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1890419PMC
November 2006

Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts.

Invest Ophthalmol Vis Sci 2006 Jul;47(7):3074-84

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850, and the Molecular and Cellular Biology Program, Tulane University, New Orleans, LA, USA.

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http://dx.doi.org/10.1167/iovs.06-0108DOI Listing
July 2006

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Am J Hum Genet 2006 Jan 21;78(1):137-43. Epub 2005 Nov 21.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/499164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380211PMC
January 2006

Usher syndrome type 1: genotype-phenotype relationships.

Retina 2005 Dec;25(8 Suppl):S40-S42

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1097/00006982-200512001-00016DOI Listing
December 2005

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Hum Genet 2005 Apr 12;116(5):407-12. Epub 2005 Feb 12.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700 Pakistan.

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http://dx.doi.org/10.1007/s00439-004-1247-yDOI Listing
April 2005

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.

Dev Biol 2005 Apr;280(2):295-306

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ydbio.2005.01.015DOI Listing
April 2005

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.

Nat Cell Biol 2005 Feb 16;7(2):148-56. Epub 2005 Jan 16.

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1038/ncb1219DOI Listing
February 2005

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

Hum Genet 2005 Jan 6;116(1-2):17-22. Epub 2004 Nov 6.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore 53700, Pakistan.

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http://dx.doi.org/10.1007/s00439-004-1205-8DOI Listing
January 2005

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene.

Hum Mol Genet 2004 Sep 14;13(18):2143-53. Epub 2004 Jul 14.

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

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http://dx.doi.org/10.1093/hmg/ddh218DOI Listing
September 2004

Genetic insights into the morphogenesis of inner ear hair cells.

Nat Rev Genet 2004 Jul;5(7):489-98

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/nrg1377DOI Listing
July 2004

Human nonsyndromic sensorineural deafness.

Annu Rev Genomics Hum Genet 2003 ;4:341-402

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1146/annurev.genom.4.070802.110347DOI Listing
December 2003

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Hum Mol Genet 2003 Dec 21;12(24):3215-23. Epub 2003 Oct 21.

Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddg358DOI Listing
December 2003

Stereocilia: the long and the short of it.

Trends Mol Med 2003 Nov;9(11):458-61

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.molmed.2003.09.008DOI Listing
November 2003

The genetic bases for syndromic and nonsyndromic deafness among Jews.

Trends Mol Med 2003 Nov;9(11):496-502

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.molmed.2003.09.004DOI Listing
November 2003

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle.

Proc Natl Acad Sci U S A 2003 Nov 10;100(24):13958-63. Epub 2003 Nov 10.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1073/pnas.2334417100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC283528PMC
November 2003

Recent advances in the understanding of syndromic forms of hearing loss.

Ear Hear 2003 Aug;24(4):289-302

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1097/01.AUD.0000079804.00047.CEDOI Listing
August 2003