← Karen P. Steel

Papers by Karen P. Steel

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51. The acquisition of mechano‐electrical transducer current adaptation in auditory hair cells requires myosin VIThe Journal of Physiology · 2016
52. Mutations and altered expression ofSERPINF1in patients with familial otosclerosisHuman Molecular Genetics · 2016
53. Exploring regulatory networks of miR-96 in the developing inner earScientific Reports · 2016
54. Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearingEMBO Molecular Medicine · 2016
55. The PDZ-Domain Protein Whirlin Facilitates Mechanosensory Signaling in Mammalian ProprioceptorsJournal of Neuroscience · 2015
56. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Orphanet Journal of Rare Diseases · 2015
57. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEuropean Journal of Human Genetics · 2015
58. A gene expression resource generated by genome-wide lacZ profiling in the mouseDisease Models & Mechanisms · 2015
59. Spinster Homolog 2 (Spns2) Deficiency Causes Early Onset Progressive Hearing LossPLoS Genetics · 2014
60. Identification of Genes Important for Cutaneous Function Revealed by a Large Scale Reverse Genetic Screen in the MousePLoS Genetics · 2014
61. ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cellsHuman Molecular Genetics · 2014
62. Salt-inducible kinase 3, SIK3, is a new gene associated with hearingHuman Molecular Genetics · 2014
63. Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screenNature Communications · 2014
64. Targeting of Slc25a21 Is Associated with Orofacial Defects and Otitis Media Due to Disrupted Expression of a Neighbouring GenePLoS ONE · 2014
65. A reduction in Ptprq associated with specific features of the deafness phenotype of the miR‐96 mutant mouse diminuendoEuropean Journal of Neuroscience · 2014
66. Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing LossPLoS ONE · 2013
67. Ectopic Expression of Activated Notch or SOX2 Reveals Similar and Unique Roles in the Development of the Sensory Cell Progenitors in the Mammalian Inner EarJournal of Neuroscience · 2013
68. Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many GenesCell · 2013
69. Presynaptic maturation in auditory hair cells requires a critical period of sensory-independent spiking activityProceedings of the National Academy of Sciences · 2013
70. Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis MediaPLoS ONE · 2013
71. Headbobber: A Combined Morphogenetic and Cochleosaccular Mouse Model to Study 10qter Deletions in Human DeafnessPLoS ONE · 2013
72. Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular DefectsPLoS ONE · 2012
73. Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability SyndromeThe American Journal of Human Genetics · 2012
74. Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotypeProceedings of the National Academy of Sciences · 2012
75. The Role of Sphingosine-1-Phosphate Transporter Spns2 in Immune System FunctionThe Journal of Immunology · 2012
76. Specific expression of Kcna10, Pxn and Odf2 in the organ of CortiGene Expression Patterns · 2012
77. Auditory Function in the Tc1 Mouse Model of Down Syndrome Suggests a Limited Region of Human Chromosome 21 Involved in Otitis MediaPLoS ONE · 2012
78. Mice deficient in the H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner earDisease Models & Mechanisms · 2012
79. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyJournal of Medical Genetics · 2011
80. Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch miceGenome biology · 2011
81. Using the Auditory Brainstem Response (ABR) to Determine Sensitivity of Hearing in Mutant MiceCurrent Protocols in Mouse Biology · 2011
82. The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65Human Molecular Genetics · 2011
83. Mutations in the Ush1c Gene Associated With Sector Retinitis Pigmentosa and Hearing LossRetina · 2011
84. A missense mutation in Fgfr1 causes ear and skull defects in hush puppy miceMammalian Genome · 2011
85. miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cellsProceedings of the National Academy of Sciences · 2011
86. The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in miceHuman Molecular Genetics · 2010
87. Emx2 and early hair cell development in the mouse inner earDevelopmental Biology · 2010
88. MicroRNAs in mouse development and diseaseSeminars in Cell and Developmental Biology · 2010
89. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceJournal of Clinical Investigation · 2009
90. Study of smell and reproductive organs in a mouse model for CHARGE syndromeEuropean Journal of Human Genetics · 2009
91. MyosinVIIa Interacts with Twinfilin-2 at the Tips of Mechanosensory Stereocilia in the Inner EarPLoS ONE · 2009
92. Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip Link formationNeuroscience · 2008
93. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanismHuman Molecular Genetics · 2008
94. Mosaic Complementation Demonstrates a Regulatory Role for Myosin VIIa in Actin Dynamics of StereociliaMolecular and Cellular Biology · 2007
95. The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia developmentCell Motility and the Cytoskeleton · 2007
96. A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesisgenesis · 2007
97. Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochleaThe Journal of Physiology · 2006
98. Multiple mutations in mouse Chd7 provide models for CHARGE syndromeHuman Molecular Genetics · 2005
99. Hush Puppy: A New Mouse Mutant With Pinna, Ossicle, and Inner Ear DefectsThe Laryngoscope · 2005
100. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomesJournal of Cell Science · 2004