Steve Dm Brown

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. pmc Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss
    F E Mackenzie
    MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK
    Genes Brain Behav 8:699-713. 2009
  2. pmc Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease
    Hilda Tateossian
    MRC Mammalian Genetics Unit, Harwell, UK
    Hum Mol Genet 22:2553-65. 2013
  3. pmc Gelsolin plays a role in the actin polymerization complex of hair cell stereocilia
    Philomena Mburu
    Medical Research Council Mammalian Genetics Unit, Harwell Science and Innovation Campus, Oxfordshire, United Kingdom
    PLoS ONE 5:e11627. 2010
  4. pmc Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development
    A Karunaratne
    Queen Mary University of London, School of Engineering and Material Sciences, Mile End Road, London, E1 4NS, UK
    Bone 51:553-62. 2012
  5. pmc The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping
    Steve D M Brown
    MRC Mammalian Genetics Unit, MRC Harwell, Oxfordshire OX11 0RD, UK
    Mamm Genome 23:632-40. 2012
  6. pmc Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice
    Andrew Parker
    MRC Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire, OX11 0RD, UK
    Mamm Genome 21:565-76. 2010
  7. pmc All systems GO for understanding mouse gene function
    Chris Holmes
    MRC Mammalian Genetics Unit, Harwell OX11 0RD, UK
    J Biol 3:20. 2004
  8. pmc Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels
    Ian Sudbery
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1HH, UK
    Genome Biol 10:R112. 2009
  9. pmc Regulation of TGF-beta signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutant
    Hilda Tateossian
    MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK
    Pathogenetics 2:5. 2009
  10. ncbi request reprint The mouse genome
    S D M Brown
    MRC Mammalian Genetics Unit, Harwell, UK
    Genome Dyn 2:33-45. 2006

Detail Information

Publications67

  1. pmc Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss
    F E Mackenzie
    MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK
    Genes Brain Behav 8:699-713. 2009
    ..Our findings suggest a novel role for Scn8a in peripheral neural hearing loss and paroxysmal motor dysfunction...
  2. pmc Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease
    Hilda Tateossian
    MRC Mammalian Genetics Unit, Harwell, UK
    Hum Mol Genet 22:2553-65. 2013
    ..The identification and characterization of the Tgif mutant supports the role of TGFβ signalling in the development of chronic OM and provides an important candidate gene for genetic studies in the human population...
  3. pmc Gelsolin plays a role in the actin polymerization complex of hair cell stereocilia
    Philomena Mburu
    Medical Research Council Mammalian Genetics Unit, Harwell Science and Innovation Campus, Oxfordshire, United Kingdom
    PLoS ONE 5:e11627. 2010
    ..The identification of gelsolin provides for the first time a link between the whirlin scaffolding protein complex involved in stereocilia elongation and a known actin regulatory molecule...
  4. pmc Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development
    A Karunaratne
    Queen Mary University of London, School of Engineering and Material Sciences, Mile End Road, London, E1 4NS, UK
    Bone 51:553-62. 2012
    ....
  5. pmc The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping
    Steve D M Brown
    MRC Mammalian Genetics Unit, MRC Harwell, Oxfordshire OX11 0RD, UK
    Mamm Genome 23:632-40. 2012
    ..This short article explores the drivers for large-scale mouse phenotyping and provides an overview of the aims and processes involved in IMPC mouse production and phenotyping...
  6. pmc Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice
    Andrew Parker
    MRC Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire, OX11 0RD, UK
    Mamm Genome 21:565-76. 2010
    ..The melody line provides a new model for studying the role of Caspase 3 in deafness and a number of other pathways and systems...
  7. pmc All systems GO for understanding mouse gene function
    Chris Holmes
    MRC Mammalian Genetics Unit, Harwell OX11 0RD, UK
    J Biol 3:20. 2004
    ..Now, an extensive analysis of gene expression in the mouse reveals that quantitative measurement of expression levels in different tissues can contribute powerfully to the prediction of gene function...
  8. pmc Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels
    Ian Sudbery
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1HH, UK
    Genome Biol 10:R112. 2009
    ....
  9. pmc Regulation of TGF-beta signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutant
    Hilda Tateossian
    MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK
    Pathogenetics 2:5. 2009
    ..TGF-beta signalling is involved in a number of epithelial developmental processes and we have investigated the impact of the Jeff mutation on the expression of this pathway...
  10. ncbi request reprint The mouse genome
    S D M Brown
    MRC Mammalian Genetics Unit, Harwell, UK
    Genome Dyn 2:33-45. 2006
    ....
  11. ncbi request reprint Quiet as a mouse: dissecting the molecular and genetic basis of hearing
    Steve D M Brown
    MRC Mammalian Genetics Unit, Harwell, OX11 ORD, UK
    Nat Rev Genet 9:277-90. 2008
    ....
  12. pmc Focusing on the genetics of hearing: you ain't heard nothin' yet
    Nick Parkinson
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, OX11 ORD, UK
    Genome Biol 3:COMMENT2006. 2002
    ..Genome-wide mutagenesis studies in the mouse are beginning to shed further light on the structure and regulation of the machinery of hearing...
  13. pmc Understanding mammalian genetic systems: the challenge of phenotyping in the mouse
    Steve D M Brown
    University College London, United Kingdom
    PLoS Genet 2:e118. 2006
    ..In addition, it will be necessary to develop new informatics standards that capture the phenotype assay as well as other factors, genetic and environmental, that impinge upon phenotype outcome...
  14. ncbi request reprint Whither the mouse genome?
    Steve D M Brown
    MRC Mammalian Genetics Unit adn UK Mouse Genome Centre, Harwell, UK
    Mamm Genome 13:481-2. 2002
  15. ncbi request reprint Mutagenesis strategies for identifying novel loci associated with disease phenotypes
    Steve D M Brown
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Oxon OX11 0RD, UK
    Semin Cell Dev Biol 14:19-24. 2003
    ..The growing mouse mutant archive provides a powerful resource for the identification of novel genes involved with human genetic disease...
  16. ncbi request reprint Systematic approaches to mouse mutagenesis
    S D Brown
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, OX11 ORD, Harwell, UK
    Curr Opin Genet Dev 11:268-73. 2001
    ....
  17. ncbi request reprint Mouse mutagenesis-systematic studies of mammalian gene function
    S D Brown
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Hum Mol Genet 7:1627-33. 1998
    ..Together, the complementary routes of genotype- and phenotype-driven mutagenesis will provide a much enlarged catalogue of mouse mutations and phenotypes for future gene function studies...
  18. ncbi request reprint The functional annotation of mammalian genomes: the challenge of phenotyping
    Steve D M Brown
    MRC Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, United Kingdom
    Annu Rev Genet 43:305-33. 2009
    ..The ultimate goal is a comprehensive database of molecular interventions that allows us to create a framework for biological systems analysis in the mouse on which human biology and disease networks can be revealed...
  19. ncbi request reprint A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse
    P M Nolan
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, UK
    Nat Genet 25:440-3. 2000
    ..Our work, along with the programme reported in the accompanying paper, has led to a substantial increase in the mouse mutant resource and represents a first step towards systematic studies of gene function in mammalian genetics...
  20. ncbi request reprint Implementation of a large-scale ENU mutagenesis program: towards increasing the mouse mutant resource
    P M Nolan
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, UK
    Mamm Genome 11:500-6. 2000
    ....
  21. ncbi request reprint The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein
    G Blanco
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Hum Mol Genet 10:9-16. 2001
    ..The ky transcript encodes a novel protein that is detected only in skeletal muscle and heart. The identification of the ky gene will allow detailed analysis of the impact of primary myopathy on idiopathic scoliosis in mice and man...
  22. ncbi request reprint Mutation analysis of the mouse myosin VIIA deafness gene
    P Mburu
    MRC Mouse Genome Centre, Harwell, UK
    Genes Funct 1:191-203. 1997
    ..This and other data suggest that myosin VIIA may have properties of a myosin-motor-kinesin-tail hybrid and be involved in membrane turnover within the actin-rich environment of the apical hair cell surface...
  23. ncbi request reprint Shaker mice and a peek into the House of Usher
    D Saw
    Medical Research Council, Mouse Genome Centre, Harwell, Didcot, Oxfordshire, United Kingdom
    Exp Anim 46:1-9. 1997
  24. ncbi request reprint Genetics of deafness
    K P Steel
    MRC Institute of Hearing Research, University of Nottingham, University Park, NG7 2RD, UK
    Curr Opin Neurobiol 6:520-5. 1996
    ..Two of these genes encode unconventional myosin molecules. The roles of these and other molecules identified by genetic approaches as important in hearing are being explored...
  25. ncbi request reprint A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate
    A J Paige
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Didcot, Oxon OX11 0RD, UK
    Mamm Genome 11:51-7. 2000
    ..The Orm1 locus is also deleted in the CE/J mouse strain, and we discuss the candidature of Orm1 for the whirler gene...
  26. ncbi request reprint Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
    X Z Liu
    MRC Mouse Genome Centre, Harwell, Oxfordshire, UK
    Nat Genet 16:188-90. 1997
    ..By screening families with non-syndromic deafness from China, we have identified two families carrying MYO7A mutations...
  27. ncbi request reprint Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse
    R M Arkell
    MRC UK Mouse Genome Centre and Mammalian Genetics Unit Harwell, Oxon, OX11 0RD, UK
    Mamm Genome 12:687-94. 2001
    ..Both the heterozygous viability and the penetrance of the visible phenotypes vary with genetic background...
  28. ncbi request reprint The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti
    H Tsai
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Hum Mol Genet 10:507-12. 2001
    ..We show that the slalom mutant carries a mutation in the Jagged1 gene, implicating a new ligand in the signalling processes that pattern the inner ear neuro-epithelium...
  29. ncbi request reprint A STS content physical and transcription map across the ky, kyphoscoliosis, nonrecombinant region
    G Blanco
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon, OX11 7US, United Kingdom
    Genomics 54:415-23. 1998
    ..One of these transcription units is expressed exclusively in skeletal muscle, making it a suitable candidate for this muscle defect in the ky mouse...
  30. ncbi request reprint A high-resolution genetic, physical, and comparative gene map of the doublefoot (Dbf) region of mouse chromosome 1 and the region of conserved synteny on human chromosome 2q35
    C Hayes
    Medical Research Council, Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Didcot, Oxon, OX11 0RD, UK
    Genomics 78:197-205. 2001
    ..These genes include those encoding known developmental signaling molecules such as WNT proteins and IHH, and we provide evidence that these genes are candidates for the Dbf mutation...
  31. ncbi request reprint Genetic mapping of protein kinase C theta (Pkcq) to mouse chromosome 2
    G Blanco
    MRC Mouse Genome Centre, Harwell, Oxon, UK
    Mamm Genome 8:70-1. 1997
  32. ncbi request reprint Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor prote
    G Blanco
    MRC Mouse Genome Centre and MRC Mammalian Genetics Unit, Harwell, Didcot, Oxon OX11 ORD, UK
    Mamm Genome 9:473-5. 1998
  33. ncbi request reprint Novel ENU-induced eye mutations in the mouse: models for human eye disease
    Caroline Thaung
    Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh EH4 2XU, UK
    Hum Mol Genet 11:755-67. 2002
    ..This collection of eye mutations will be valuable for understanding gene function, for dissecting protein function and as models of human eye disease...
  34. pmc Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media
    Nicholas Parkinson
    Mammalian Gentics Unit, Medical Research Council, Harwell, United Kingdom
    PLoS Genet 2:e149. 2006
    ..The identification and characterization of the Junbo mutant elaborates a novel role for Evi1 in mammalian disease and implicates a new pathway in genetic predisposition to OM...
  35. ncbi request reprint Elongation of hair cell stereocilia is defective in the mouse mutant whirler
    Ralph H Holme
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, United Kingdom
    J Comp Neurol 450:94-102. 2002
    ..Eventually, both IHCs and OHCs degenerate. We show that the whirler locus encodes a protein(s) required for the elongation and maintenance of IHC and OHC stereocilia...
  36. pmc Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
    David A Keays
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Cell 128:45-57. 2007
    ..We identified two patients with de novo mutations in TUBA3, the human homolog of Tuba1. This study demonstrates the utility of ENU mutagenesis in the mouse as a means to discover the basis of human neurodevelopmental disorders...
  37. ncbi request reprint Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2
    Tertius A Hough
    Mammalian Genetics Unit, Mary Lyon Centre, Medical Research Council, Harwell, Oxfordshire, United Kingdom
    J Bone Miner Res 22:1397-407. 2007
    ..Here we report on mice with an induced mutation in Akp2 that affects splicing. The phenotype of homozygotes mirror aspects of the adult form of HPP...
  38. ncbi request reprint An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda
    Ivana Barbaric
    MRC Mammalian Genetics Unit, Harwell
    Physiol Genomics 32:311-21. 2008
    ..This gene has not been previously associated with bone metabolism and, thus, identifies a novel genetic regulator of bone homeostasis...
  39. ncbi request reprint ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis
    Amy E Kiernan
    MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK
    Mamm Genome 13:142-8. 2002
    ....
  40. ncbi request reprint A gene-driven approach to the identification of ENU mutants in the mouse
    Emma L Coghill
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell OX11 ORD, UK
    Nat Genet 30:255-6. 2002
    ..We provide support for this approach and report the identification of mutations in the gene (Gjb2) encoding connexin 26, using archives established from the UK ENU mutagenesis program...
  41. ncbi request reprint Molecular phenotyping of the mouse ky mutant reveals UCP1 upregulation at the neuromuscular junctions of dystrophic soleus muscle
    G Blanco
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Neuromuscul Disord 14:217-28. 2004
    ..Altogether, the data presented suggest that the ky muscular dystrophy develops by a distinctive pathogenic mechanism...
  42. ncbi request reprint Genetic analysis of the mouse brain proteome
    Joachim Klose
    Institut fur Humangenetik, Humboldt Universitat zu Berlin, Charite, Campus Virchow Klinikum, Augustenburger Platz 1, D 13353 Berlin, Germany
    Nat Genet 30:385-93. 2002
    ..Genetic analysis of proteomes may detect the types of polymorphism that are most relevant in disease-association studies...
  43. pmc Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen
    Debora Bogani
    Mammalian Genetics Unit, Medical Research Council Harwell, Oxfordshire OX11 0RD, United Kingdom
    Proc Natl Acad Sci U S A 102:12477-82. 2005
    ....
  44. ncbi request reprint Novel phenotypes identified by plasma biochemical screening in the mouse
    Tertius A Hough
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, OX11 ORD, UK
    Mamm Genome 13:595-602. 2002
    ..Our results have validated our biochemical screen, which is applicable to other mutagenesis projects, and we have produced a new set of mutants with defined metabolic phenotypes...
  45. ncbi request reprint A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil
    Alexandra Erven
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, UK
    Eur J Neurosci 16:1433-41. 2002
    ....
  46. pmc The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media
    Rachel E Hardisty
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, OX11 0RD, UK
    J Assoc Res Otolaryngol 4:130-8. 2003
    ..Middle ear epithelia of Jeff mice show evidence of a chronic proliferative otitis media. The Jeff mutant should prove valuable in elucidating the underlying genetic pathways predisposing to otitis media...
  47. ncbi request reprint A major locus conferring susceptibility to infection by Streptococcus pneumoniae in mice
    Paul Denny
    MRC UK Mouse Genome Centre and Mammalian Genetics Unit, Harwell, Oxon, OX11 0RD, UK
    Mamm Genome 14:448-53. 2003
    ..Linkage analysis of the F(2) generation from a cross between resistant BALB/cO1aHsd and susceptible CBA/CaO1aHsd strains allowed us to map a major locus controlling the development of bacteremia and survival after intranasal infection...
  48. ncbi request reprint Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders
    Sohaila Rastan
    GlaxoSmithKline, New Frontiers Science Park, Harlow, UK
    Genetica 122:47-9. 2004
    ..For further information on the project and details of the data, see http://www.mgu.har.mrc.ac.uk/mutabase...
  49. ncbi request reprint Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    Philomena Mburu
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Nat Genet 34:421-8. 2003
    ..Our findings suggest that this novel PDZ domain-containing molecule acts as an organizer of submembranous molecular complexes that control the coordinated actin polymerization and membrane growth of stereocilia...
  50. pmc Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resources
    John M Hancock
    Mamm Genome 18:157-63. 2007
    ..This process is ongoing and needs to be supported by the wider mouse genetics and phenotyping communities to succeed. We invite interested parties to contact us as we develop this process further...
  51. ncbi request reprint Rodent models of genetic disease
    Roger D Cox
    MRC Mammalian Genetics Unit, Medical Research Council, Harwell, Oxfordshire OX11 0RD, UK
    Curr Opin Genet Dev 13:278-83. 2003
    ..In the past year there have been refinements to ENU mutagenesis approaches including balancer chromosomes and a new gene-driven approach...
  52. ncbi request reprint A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse
    Adrian M Isaacs
    Medical Research Council Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom
    J Neurosci 23:1631-7. 2003
    ..This function was not identified through knock-out studies, highlighting the power of phenotype-driven mutagenesis in the mouse to identify new pathways involved in neurological disease...
  53. ncbi request reprint The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon
    Charlotte R Rhodes
    MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK
    J Neurocytol 32:1143-54. 2003
    ..We show that a missense mutation in the homeobox gene Emx2 is responsible for these defects, identifying a new function for this gene in the development of specific structures in the ear...
  54. ncbi request reprint Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse
    John A Curtin
    GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park, Harlow, Essex, CM19 5AW, United Kingdom
    Curr Biol 13:1129-33. 2003
    ....
  55. pmc Mouse models as a tool to unravel the genetic basis for human otitis media
    Qing Yin Zheng
    Department of Otolaryngology, Case Western Reserve Universuty, Cleveland, OH 44106, USA
    Brain Res 1091:9-15. 2006
    ..We review the literature and discuss recent progresses in developing mouse models and using mouse models to uncover the genetic basis for human OM...
  56. pmc Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse
    Ann Marie Mallon
    Medical Research Council Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom
    Genome Res 14:1888-901. 2004
    ..This analysis will facilitate functional genomic analysis of Del36H and provides insights into mouse genome evolution...
  57. pmc Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits
    Matthias Groszer
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
    Curr Biol 18:354-62. 2008
    ....
  58. pmc Association of the FBXO11 gene with chronic otitis media with effusion and recurrent otitis media: the Minnesota COME/ROM Family Study
    Fernando Segade
    Department of Internal Medicine, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Arch Otolaryngol Head Neck Surg 132:729-33. 2006
    ..We have evaluated single nucleotide polymorphisms (SNPs) in the FBXO11 gene for association with chronic otitis media with effusion/recurrent otitis media (COME/ROM)...
  59. ncbi request reprint Dynein mutations impair autophagic clearance of aggregate-prone proteins
    Brinda Ravikumar
    Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2XY, UK
    Nat Genet 37:771-6. 2005
    ....
  60. ncbi request reprint Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
    Xiao Mei Ouyang
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 116:292-9. 2005
    ..The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes...
  61. ncbi request reprint A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse
    Rachel E Hardisty-Hughes
    MRC Mammalian Genetics Unit, Harwell, UK
    Hum Mol Genet 15:3273-9. 2006
    ..In addition, the recessive effects of mutant alleles of Fbxo11 identify the gene as an important candidate for cleft palate studies in the human population...
  62. pmc Regulatory variation at glypican-3 underlies a major growth QTL in mice
    Fiona Oliver
    University of Edinburgh, Institute of Evolutionary Biology, School of Biological Sciences, Edinburgh, United Kingdom
    PLoS Biol 3:e135. 2005
    ..Furthermore, these findings show that small changes in gene expression can have substantial phenotypic effects...
  63. ncbi request reprint Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy
    Adrian M Isaacs
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom
    Mol Cell Neurosci 21:114-25. 2002
    ..This suggests that large Pmp22 aggregates may be protective in this form of peripheral neuropathy...
  64. ncbi request reprint Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
    Yoshiaki Kikkawa
    MRC Mammalian Genetics Unit, Harwell OX11 ORD, UK
    Hum Mol Genet 14:391-400. 2005
    ..The data indicate that whirlin expression is a critical and dynamic organizer for stereocilia elongation and actin polymerization...
  65. ncbi request reprint A gene-driven ENU-based approach to generating an allelic series in any gene
    Mohamed Mohideen Quwailid
    MRC Mammalian Genetics Unit, Medical Research Council, OX11 0RD, Harwell, Oxfordshire, UK
    Mamm Genome 15:585-91. 2004
    ..It is now available to academic collaborators as a community resource...
  66. pmc Whirlin complexes with p55 at the stereocilia tip during hair cell development
    Philomena Mburu
    Medical Research Council Mammalian Genetics Unit, Harwell OX11 ORD, United Kingdom
    Proc Natl Acad Sci U S A 103:10973-8. 2006
    ..p55 and protein 4.1R form complexes critical for actin cytoskeletal assembly in erythrocytes, and the interaction of whirlin with p55 indicates it plays a similar role in hair cell stereocilia...