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Karen Steel - Publications

Affiliations: 
King's College London, London, UK 
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68/126 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Lewis MA, Schulte J, Matthews L, Vaden KI, Steves CJ, Williams FMK, Schulte BA, Dubno JR, Steel KP. Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. Plos Genetics. 19: e1011058. PMID 38011198 DOI: 10.1371/journal.pgen.1011058  0.302
2023 Zhu W, Du W, Rameshbabu AP, Armstrong AM, Silver S, Kim Y, Wei W, Shu Y, Liu X, Lewis MA, Steel KP, Chen ZY. Targeted genome editing restores auditory function in adult mice with progressive hearing loss caused by a human microRNA mutation. Biorxiv : the Preprint Server For Biology. PMID 37961137 DOI: 10.1101/2023.10.26.564008  0.36
2023 Martelletti E, Ingham NJ, Steel KP. Reversal of an existing hearing loss by gene activation in mutant mice. Proceedings of the National Academy of Sciences of the United States of America. 120: e2307355120. PMID 37552762 DOI: 10.1073/pnas.2307355120  0.382
2023 Lachgar-Ruiz M, Morín M, Martelletti E, Ingham NJ, Preite L, Lewis MA, de Castro LSS, Steel KP, Moreno-Pelayo MÁ. Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants. Disease Models & Mechanisms. PMID 37165931 DOI: 10.1242/dmm.049757  0.354
2023 Lewis MA, Schulte J, Matthews L, Vaden KI, Steves CJ, Williams FMK, Schulte BA, Dubno JR, Steel KP. Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. Medrxiv : the Preprint Server For Health Sciences. PMID 37163093 DOI: 10.1101/2023.04.27.23289040  0.302
2023 Chiereghin C, Robusto M, Lewis MA, Caetano S, Massa V, Castorina P, Ambrosetti U, Steel KP, Duga S, Asselta R, Soldà G. In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear. Plos One. 18: e0273586. PMID 36689403 DOI: 10.1371/journal.pone.0273586  0.364
2022 Kochaj RM, Martelletti E, Ingham NJ, Buniello A, Sousa BC, Wakelam MJO, Lopez-Clavijo AF, Steel KP. The Effect of a Mutation on Hearing and Lipid Content of the Inner Ear. Cells. 11. PMID 36291074 DOI: 10.3390/cells11203206  0.391
2022 Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, ... ... Steel KP, et al. Mutations in encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Proceedings of the National Academy of Sciences of the United States of America. 119: e2204084119. PMID 35727972 DOI: 10.1073/pnas.2204084119  0.379
2022 Lewis MA, Ingham NJ, Chen J, Pearson S, Di Domenico F, Rekhi S, Allen R, Drake M, Willaert A, Rook V, Pass J, Keane T, Adams DJ, Tucker AS, White JK, ... Steel KP, et al. Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme. Bmc Biology. 20: 67. PMID 35296311 DOI: 10.1186/s12915-022-01257-8  0.313
2022 Lorente-Cánovas B, Eckrich S, Lewis MA, Johnson SL, Marcotti W, Steel KP. Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells. Plos One. 17: e0261530. PMID 35235570 DOI: 10.1371/journal.pone.0261530  0.402
2022 Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, et al. The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. Jci Insight. 7. PMID 35132964 DOI: 10.1172/jci.insight.148586  0.329
2021 Ingham NJ, Banafshe N, Panganiban C, Crunden JL, Chen J, Lewis MA, Steel KP. Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss. Plos One. 16: e0258158. PMID 34597341 DOI: 10.1371/journal.pone.0258158  0.405
2020 Lewis MA, Di Domenico F, Ingham NJ, Prosser HM, Steel KP. Hearing impairment due to mutations suggests both loss and gain of function effects. Disease Models & Mechanisms. PMID 33318051 DOI: 10.1242/dmm.047225  0.396
2020 Martelletti E, Ingham NJ, Houston O, Pass JC, Chen J, Marcotti W, Steel KP. Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice. Frontiers in Cellular Neuroscience. 14: 561857. PMID 33100973 DOI: 10.3389/fncel.2020.561857  0.402
2020 Ingham NJ, Rook V, Di Domenico F, James E, Lewis MA, Girotto G, Buniello A, Steel KP. Functional analysis of candidate genes from genome-wide association studies of hearing. Hearing Research. 387: 107879. PMID 31927188 DOI: 10.1016/j.heares.2019.107879  0.353
2019 Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, ... ... Steel KP, et al. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Plos Biology. 17: e3000194. PMID 30973865 DOI: 10.1371/journal.pbio.3000194  0.327
2018 Schlüter T, Berger C, Rosengauer E, Fieth P, Krohs C, Ushakov K, Steel KP, Avraham KB, Hartmann A, Felmy F, Nothwang HG. miR-96 is required for normal development of the auditory hindbrain. Human Molecular Genetics. PMID 29325119 DOI: 10.1093/Hmg/Ddy007  0.302
2017 Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, ... ... Steel KP, et al. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature Communications. 8: 886. PMID 29026089 DOI: 10.1038/S41467-017-00595-4  0.341
2016 Ingham NJ, Carlisle F, Pearson S, Lewis MA, Buniello A, Chen J, Isaacson RL, Pass J, White JK, Dawson SJ, Steel KP. S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse. Scientific Reports. 6: 28964. PMID 27383011 DOI: 10.1038/srep28964  0.361
2016 Ebrahim S, Ingham NJ, Lewis MA, Rogers MJ, Cui R, Kachar B, Pass JC, Steel KP. Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell Reports. PMID 27117407 DOI: 10.1016/J.Celrep.2016.03.081  0.348
2016 Buniello A, Ingham NJ, Lewis MA, Huma AC, Martinez-Vega R, Varela-Nieto I, Vizcay-Barrena G, Fleck RA, Houston O, Bardhan T, Johnson SL, White JK, Yuan H, Marcotti W, Steel KP. Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. Embo Molecular Medicine. PMID 26881968 DOI: 10.15252/emmm.201505523  0.313
2015 de Angelis MH, Nicholson G, Selloum M, White JK, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, ... ... Steel KP, et al. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nature Genetics. PMID 26214591 DOI: 10.1038/Ng.3360  0.316
2015 Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, ... ... Steel KP, et al. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. Plos Genetics. 11: e1005386. PMID 26197441 DOI: 10.1371/journal.pgen.1005386  0.304
2015 Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, et al. 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. 10: 15. PMID 25759012 DOI: 10.1186/s13023-015-0238-5  0.339
2015 Morozko EL, Nishio A, Ingham NJ, Chandra R, Fitzgerald T, Martelletti E, Borck G, Wilson E, Riordan GP, Wangemann P, Forge A, Steel KP, Liddle RA, Friedman TB, Belyantseva IA. ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. Human Molecular Genetics. 24: 609-24. PMID 25217574 DOI: 10.1093/Hmg/Ddu474  0.386
2014 Chen J, Ingham N, Kelly J, Jadeja S, Goulding D, Pass J, Mahajan VB, Tsang SH, Nijnik A, Jackson IJ, White JK, Forge A, Jagger D, Steel KP. Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. Plos Genetics. 10: e1004688. PMID 25356849 DOI: 10.1371/Journal.Pgen.1004688  0.436
2014 Liakath-Ali K, Vancollie VE, Heath E, Smedley DP, Estabel J, Sunter D, Ditommaso T, White JK, Ramirez-Solis R, Smyth I, Steel KP, Watt FM. Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature Communications. 5: 3540. PMID 24721909 DOI: 10.1038/ncomms4540  0.303
2014 Maguire S, Estabel J, Ingham N, Pearson S, Ryder E, Carragher DM, Walker N, Bussell J, Chan WI, Keane TM, Adams DJ, Scudamore CL, Lelliott CJ, Ramírez-Solis R, ... ... Steel KP, et al. Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene. Plos One. 9: e91807. PMID 24642684 DOI: 10.1371/Journal.Pone.0091807  0.379
2014 Chen J, Johnson SL, Lewis MA, Hilton JM, Huma A, Marcotti W, Steel KP. A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo. The European Journal of Neuroscience. 39: 744-56. PMID 24446963 DOI: 10.1111/ejn.12484  0.348
2013 Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. Plos One. 8: e80323. PMID 24312468 DOI: 10.1371/journal.pone.0080323  0.347
2013 Chen J, Ingham N, Clare S, Raisen C, Vancollie VE, Ismail O, McIntyre RE, Tsang SH, Mahajan VB, Dougan G, Adams DJ, White JK, Steel KP. Mcph1-deficient mice reveal a role for MCPH1 in otitis media. Plos One. 8: e58156. PMID 23516444 DOI: 10.1371/Journal.Pone.0058156  0.395
2013 Buniello A, Hardisty-Hughes RE, Pass JC, Bober E, Smith RJ, Steel KP. Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness. Plos One. 8: e56274. PMID 23457544 DOI: 10.1371/journal.pone.0056274  0.387
2013 Bosman EA, Estabel J, Ismail O, Podrini C, White JK, Steel KP. Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 24: 44-53. PMID 23160729 DOI: 10.1007/s00335-012-9438-7  0.313
2013 Lorente-Cánovas B, Ingham N, Norgett EE, Golder ZJ, Karet Frankl FE, Steel KP. Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Disease Models & Mechanisms. 6: 434-42. PMID 23065636 DOI: 10.1242/dmm.010645  0.383
2012 Kuhn S, Ingham N, Pearson S, Gribble SM, Clayton S, Steel KP, Marcotti W. Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media. Plos One. 7: e31433. PMID 22348087 DOI: 10.1371/journal.pone.0031433  0.356
2011 Ingham NJ, Pearson S, Steel KP. Using the Auditory Brainstem Response (ABR) to Determine Sensitivity of Hearing in Mutant Mice. Current Protocols in Mouse Biology. 1: 279-87. PMID 26069055 DOI: 10.1002/9780470942390.mo110059  0.314
2011 Hilton JM, Lewis MA, Grati M, Ingham N, Pearson S, Laskowski RA, Adams DJ, Steel KP. Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice. Genome Biology. 12: R90. PMID 21936904 DOI: 10.1186/Gb-2011-12-9-R90  0.392
2011 Calvert JA, Dedos SG, Hawker K, Fleming M, Lewis MA, Steel KP. A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 22: 290-305. PMID 21479780 DOI: 10.1007/s00335-011-9324-8  0.319
2010 Schütz M, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F. The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. Human Molecular Genetics. 19: 4759-73. PMID 20858605 DOI: 10.1093/Hmg/Ddq402  0.409
2009 Bosman EA, Quint E, Fuchs H, Hrabé de Angelis M, Steel KP. Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. Developmental Biology. 328: 285-96. PMID 19389353 DOI: 10.1016/j.ydbio.2009.01.030  0.419
2009 Lewis MA, Quint E, Glazier AM, Fuchs H, De Angelis MH, Langford C, van Dongen S, Abreu-Goodger C, Piipari M, Redshaw N, Dalmay T, Moreno-Pelayo MA, Enright AJ, Steel KP. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nature Genetics. 41: 614-8. PMID 19363478 DOI: 10.1038/ng.369  0.358
2009 Rzadzinska AK, Steel K. Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip Link formation Neuroscience. 158: 365-368. PMID 18996172 DOI: 10.1016/J.Neuroscience.2008.10.012  0.337
2008 Spiden SL, Bortolozzi M, Di Leva F, de Angelis MH, Fuchs H, Lim D, Ortolano S, Ingham NJ, Brini M, Carafoli E, Mammano F, Steel KP. The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss. Plos Genetics. 4: e1000238. PMID 18974863 DOI: 10.1371/Journal.Pgen.1000238  0.398
2008 Hertzano R, Shalit E, Rzadzinska AK, Dror AA, Song L, Ron U, Tan JT, Shitrit AS, Fuchs H, Hasson T, Ben-Tal N, Sweeney HL, de Angelis MH, Steel KP, Avraham KB. A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells. Plos Genetics. 4: e1000207. PMID 18833301 DOI: 10.1371/Journal.Pgen.1000207  0.346
2008 Prosser HM, Rzadzinska AK, Steel KP, Bradley A. Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia. Molecular and Cellular Biology. 28: 1702-12. PMID 18160714 DOI: 10.1128/MCB.01282-07  0.355
2007 Mogensen MM, Rzadzinska A, Steel KP. The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motility and the Cytoskeleton. 64: 496-508. PMID 17326148 DOI: 10.1002/cm.20199  0.3
2007 Warren M, Wang W, Spiden S, Chen-Murchie D, Tannahill D, Steel KP, Bradley A. A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. Genesis (New York, N.Y. : 2000). 45: 51-8. PMID 17216607 DOI: 10.1002/Dvg.20264  0.348
2006 Mashimo T, Erven AE, Spiden SL, Guénet JL, Steel KP. Two quantitative trait loci affecting progressive hearing loss in 101/H mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 17: 841-50. PMID 16897347 DOI: 10.1007/s00335-004-2438-5  0.35
2006 Marcotti W, Erven A, Johnson SL, Steel KP, Kros CJ. Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. The Journal of Physiology. 574: 677-98. PMID 16627570 DOI: 10.1113/jphysiol.2005.095661  0.407
2005 Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Human Molecular Genetics. 14: 3463-76. PMID 16207732 DOI: 10.1093/hmg/ddi375  0.324
2005 Hawker K, Fuchs H, Angelis MH, Steel KP. Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4. International Journal of Audiology. 44: 171-7. PMID 15916118 DOI: 10.1080/14992020500057434  0.356
2005 Kiernan AE, Pelling AL, Leung KKH, Tang ASP, Bell DM, Tease C, Lovell-Badge R, Steel KP, Cheah KSE. Sox2 is required for sensory organ development in the mammalian inner ear Nature. 434: 1031-1035. PMID 15846349 DOI: 10.1038/Nature03487  0.405
2004 Rhodes CR, Hertzano R, Fuchs H, Bell RE, de Angelis MH, Steel KP, Avraham KB. A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 686-97. PMID 15389316 DOI: 10.1007/S00335-004-2344-X  0.407
2004 Pau H, Hawker K, Fuchs H, De Angelis MH, Steel KP. Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 25: 707-13. PMID 15353999 DOI: 10.1097/00129492-200409000-00010  0.315
2004 Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 424-32. PMID 15181535 DOI: 10.1007/S00335-004-2334-Z  0.351
2004 Holme RH, Steel KP. Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. Journal of the Association For Research in Otolaryngology : Jaro. 5: 66-79. PMID 14648237 DOI: 10.1007/s10162-003-4021-2  0.339
2003 Lillo C, Kitamoto J, Liu X, Quint E, Steel KP, Williams DS. Mouse models for Usher syndrome 1B. Advances in Experimental Medicine and Biology. 533: 143-50. PMID 15180258 DOI: 10.1007/978-1-4615-0067-4_18  0.376
2003 Rhodes CR, Parkinson N, Tsai H, Brooker D, Mansell S, Spurr N, Hunter AJ, Steel KP, Brown SD. The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon. Journal of Neurocytology. 32: 1143-54. PMID 15044845 DOI: 10.1023/B:NEUR.0000021908.98337.91  0.39
2003 Libby RT, Kitamoto J, Holme RH, Williams DS, Steel KP. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Experimental Eye Research. 77: 731-9. PMID 14609561 DOI: 10.1016/J.Exer.2003.07.007  0.316
2003 Hardisty RE, Erven A, Logan K, Morse S, Guionaud S, Sancho-Oliver S, Hunter AJ, Brown SD, Steel KP. The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media. Journal of the Association For Research in Otolaryngology : Jaro. 4: 130-8. PMID 12943368  0.383
2003 Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, ... ... Steel KP, et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nature Genetics. 34: 421-8. PMID 12833159 DOI: 10.1038/Ng1208  0.391
2003 Hulander M, Kiernan AE, Blomqvist SR, Carlsson P, Samuelsson EJ, Johansson BR, Steel KP, Enerbäck S. Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development (Cambridge, England). 130: 2013-25. PMID 12642503  0.37
2002 Erven A, Skynner MJ, Okumura K, Takebayashi SI, Brown SDM, Steel KP, Allen ND. A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil European Journal of Neuroscience. 16: 1433-1441. PMID 12405956 DOI: 10.1046/j.1460-9568.2002.02213.x  0.394
2002 Holme RH, Steel KP. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hearing Research. 169: 13-23. PMID 12121736 DOI: 10.1016/s0378-5955(02)00334-9  0.41
2002 Kiernan AE, Erven A, Voegeling S, Peters J, Nolan P, Hunter J, Bacon Y, Steel KP, Brown SDM, Guénet JL. ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis Mammalian Genome. 13: 142-148. PMID 11919684 DOI: 10.1007/s0033501-2088-9  0.408
2002 Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nature Genetics. 30: 257-8. PMID 11850623 DOI: 10.1038/Ng848  0.379
2002 Kros CJ, Marcotti W, van Netten SM, Self TJ, Libby RT, Brown SD, Richardson GP, Steel KP. Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nature Neuroscience. 5: 41-7. PMID 11753415 DOI: 10.1038/Nn784  0.396
1980 Bock GR, Steel K. Cochlear potentials in deafness and jerker mice Journal of the Acoustical Society of America. 67. DOI: 10.1121/1.2018460  0.375
Low-probability matches (unlikely to be authored by this person)
2017 Ingham NJ, Steel KP, Drescher U. On the role of ephrinA2 in auditory function. Hearing Research. 350: 11-16. PMID 28390777 DOI: 10.1016/j.heares.2017.04.002  0.299
2013 White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, ... ... Steel KP, et al. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell. 154: 452-64. PMID 23870131 DOI: 10.1016/J.Cell.2013.06.022  0.299
2004 Rastan S, Hough T, Kierman A, Hardisty R, Erven A, Gray IC, Voeling S, Isaacs A, Tsai H, Strivens M, Washbourne R, Thornton C, Greenaway S, Hewitt M, McCormick S, ... ... Steel KP, et al. Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders. Genetica. 122: 47-9. PMID 15619960 DOI: 10.1007/S10709-004-1930-X  0.299
2014 Girotto G, Vuckovic D, Buniello A, Lorente-Cánovas B, Lewis M, Gasparini P, Steel KP. Expression and replication studies to identify new candidate genes involved in normal hearing function. Plos One. 9: e85352. PMID 24454846 DOI: 10.1371/journal.pone.0085352  0.296
2003 Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SD, Gray IC, Murdoch JN. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Current Biology : Cb. 13: 1129-33. PMID 12842012 DOI: 10.1016/S0960-9822(03)00374-9  0.296
2002 Holme RH, Kiernan BW, Brown SD, Steel KP. Elongation of hair cell stereocilia is defective in the mouse mutant whirler. The Journal of Comparative Neurology. 450: 94-102. PMID 12124769 DOI: 10.1002/cne.10301  0.295
2012 Norgett EE, Golder ZJ, Lorente-Cánovas B, Ingham N, Steel KP, Karet Frankl FE. Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype. Proceedings of the National Academy of Sciences of the United States of America. 109: 13775-80. PMID 22872862 DOI: 10.1073/pnas.1204257109  0.292
2012 Ayadi A, Birling MC, Bottomley J, Bussell J, Fuchs H, Fray M, Gailus-Durner V, Greenaway S, Houghton R, Karp N, Leblanc S, Lengger C, Maier H, Mallon AM, Marschall S, ... ... Steel KP, et al. Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 23: 600-10. PMID 22961258 DOI: 10.1007/S00335-012-9418-Y  0.292
2004 Libby RT, Lillo C, Kitamoto J, Williams DS, Steel KP. Myosin Va is required for normal photoreceptor synaptic activity. Journal of Cell Science. 117: 4509-15. PMID 15316067 DOI: 10.1242/Jcs.01316  0.291
2005 Pau H, Fuchs H, de Angelis MH, Steel KP. Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects. The Laryngoscope. 115: 116-24. PMID 15630379 DOI: 10.1097/01.mlg.0000150693.31130.a0  0.29
2011 Lopes VS, Gibbs D, Libby RT, Aleman TS, Welch DL, Lillo C, Jacobson SG, Radu RA, Steel KP, Williams DS. The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Human Molecular Genetics. 20: 2560-70. PMID 21493626 DOI: 10.1093/Hmg/Ddr155  0.287
2012 Carlisle FA, Steel KP, Lewis MA. Specific expression of Kcna10, Pxn and Odf2 in the organ of Corti. Gene Expression Patterns : Gep. 12: 172-9. PMID 22446089 DOI: 10.1016/j.gep.2012.03.001  0.286
2016 Marcotti W, Corns LF, Goodyear RJ, Rzadzinska AK, Avraham KB, Steel KP, Richardson GP, Kros CJ. The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI. The Journal of Physiology. PMID 27111754 DOI: 10.1113/Jp272220  0.285
2002 Cheong MA, Steel KP. Early development and degeneration of vestibular hair cells in bronx waltzer mutant mice. Hearing Research. 164: 179-89. PMID 11950537 DOI: 10.1016/s0378-5955(01)00429-4  0.284
2022 Nolan LS, Chen J, Gonçalves AC, Bullen A, Towers ER, Steel KP, Dawson SJ, Gale JE. Targeted deletion of the RNA-binding protein Caprin1 leads to progressive hearing loss and impairs recovery from noise exposure in mice. Scientific Reports. 12: 2444. PMID 35165318 DOI: 10.1038/s41598-022-05657-2  0.284
2023 Pauzuolyte V, Patel A, Wawrzynski JR, Ingham NJ, Leong YC, Karda R, Bitner-Glindzicz M, Berger W, Waddington SN, Steel KP, Sowden JC. Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. Embo Molecular Medicine. e17393. PMID 37642150 DOI: 10.15252/emmm.202317393  0.279
2018 Lewis MA, Nolan LS, Cadge BA, Matthews LJ, Schulte BA, Dubno JR, Steel KP, Dawson SJ. Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. Bmc Medical Genomics. 11: 77. PMID 30180840 DOI: 10.1186/S12920-018-0395-1  0.278
2010 Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP. Study of smell and reproductive organs in a mouse model for CHARGE syndrome. European Journal of Human Genetics : Ejhg. 18: 171-7. PMID 19809474 DOI: 10.1038/ejhg.2009.158  0.275
2018 Corns LF, Johnson SL, Roberts T, Ranatunga KM, Hendry A, Ceriani F, Safieddine S, Steel KP, Forge A, Petit C, Furness DN, Kros CJ, Marcotti W. Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation. Nature Communications. 9: 4015. PMID 30275467 DOI: 10.1038/S41467-018-06307-W  0.275
2010 Holley M, Rhodes C, Kneebone A, Herde MK, Fleming M, Steel KP. Emx2 and early hair cell development in the mouse inner ear. Developmental Biology. 340: 547-56. PMID 20152827 DOI: 10.1016/J.Ydbio.2010.02.004  0.273
2009 Davis SW, Potok MA, Brinkmeier ML, Carninci P, Lyons RH, MacDonald JW, Fleming MT, Mortensen AH, Egashira N, Ghosh D, Steel KP, Osamura RY, Hayashizaki Y, Camper SA. Genetics, gene expression and bioinformatics of the pituitary gland. Hormone Research. 71: 101-15. PMID 19407506 DOI: 10.1159/000192447  0.273
2020 Eckert MA, Harris KC, Lang H, Lewis MA, Schmiedt RA, Schulte BA, Steel KP, Vaden KI, Dubno JR. Translational and interdisciplinary insights into presbyacusis: A multidimensional disease. Hearing Research. 108109. PMID 33189490 DOI: 10.1016/j.heares.2020.108109  0.272
2014 Wolber LE, Girotto G, Buniello A, Vuckovic D, Pirastu N, Lorente-Cánovas B, Rudan I, Hayward C, Polasek O, Ciullo M, Mangino M, Steves C, Concas MP, Cocca M, Spector TD, ... ... Steel KP, et al. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. Human Molecular Genetics. 23: 6407-18. PMID 25060954 DOI: 10.1093/Hmg/Ddu346  0.27
2022 Lewis MA, Schulte BA, Dubno JR, Steel KP. Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank. Bmc Biology. 20: 150. PMID 35761239 DOI: 10.1186/s12915-022-01349-5  0.27
2005 Kitamoto J, Libby RT, Gibbs D, Steel KP, Williams DS. Myosin VI is required for normal retinal function. Experimental Eye Research. 81: 116-20. PMID 15978262 DOI: 10.1016/J.Exer.2005.02.014  0.269
2014 DiTommaso T, Jones LK, Cottle DL, Gerdin AK, Vancollie VE, Watt FM, Ramirez-Solis R, Bradley A, Steel KP, Sundberg JP, White JK, Smyth IM. Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. Plos Genetics. 10: e1004705. PMID 25340873 DOI: 10.1371/Journal.Pgen.1004705  0.264
2002 Dong S, Leung KK, Pelling AL, Lee PY, Tang AS, Heng HH, Tsui LC, Tease C, Fisher G, Steel KP, Cheah KS. Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3. Genomics. 79: 777-84. PMID 12036291 DOI: 10.1006/geno.2002.6783  0.263
2012 Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, ... ... Steel KP, et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. American Journal of Human Genetics. 91: 998-1010. PMID 23200864 DOI: 10.1016/J.Ajhg.2012.10.011  0.262
2011 Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR. Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina (Philadelphia, Pa.). 31: 1708-16. PMID 21487335 DOI: 10.1097/IAE.0b013e31820d3fd1  0.257
2012 Steffes G, Lorente-Cánovas B, Pearson S, Brooker RH, Spiden S, Kiernan AE, Guénet JL, Steel KP. Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular Defects Plos One. 7. PMID 23226461 DOI: 10.1371/journal.pone.0051065  0.255
2011 Steel K. Mouse genetics for studying mechanisms of deafness and more: an interview with Karen Steel. Interview by Sarah Allan. Disease Models & Mechanisms. 4: 716-8. PMID 22065840 DOI: 10.1242/Dmm.008813  0.253
2013 Pan W, Jin Y, Chen J, Rottier RJ, Steel KP, Kiernan AE. Ectopic expression of activated notch or SOX2 reveals similar and unique roles in the development of the sensory cell progenitors in the mammalian inner ear. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 16146-57. PMID 24107947 DOI: 10.1523/Jneurosci.3150-12.2013  0.252
2004 Gibbs D, Azarian SM, Lillo C, Kitamoto J, Klomp AE, Steel KP, Libby RT, Williams DS. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. Journal of Cell Science. 117: 6473-83. PMID 15572405 DOI: 10.1242/Jcs.01580  0.247
2003 Quint E, Steel KP. Use of mouse genetics for studying inner ear development. Current Topics in Developmental Biology. 57: 45-83. PMID 14674477 DOI: 10.1016/s0070-2153(03)57002-8  0.247
2016 Ziff JL, Crompton M, Powell HR, Lavy JA, Aldren CP, Steel KP, Saeed SR, Dawson SJ. Mutations and altered expression of SERPINF1 in patients with familial otosclerosis. Human Molecular Genetics. PMID 27056980 DOI: 10.1093/hmg/ddw106  0.246
2007 Qian D, Jones C, Rzadzinska A, Mark S, Zhang X, Steel KP, Dai X, Chen P. Wnt5a functions in planar cell polarity regulation in mice. Developmental Biology. 306: 121-33. PMID 17433286 DOI: 10.1016/J.Ydbio.2007.03.011  0.245
2008 Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Human Molecular Genetics. 17: 2405-15. PMID 18463160 DOI: 10.1093/Hmg/Ddn140  0.242
1997 POVEY S, ATTWOOD J, CHADWICK B, FREZAL J, HAINES JL, KNOWLES M, KWIATKOWSKI DJ, OLOPADE OI, SLAUGENHAUPT S, SPURR NK, SMITH M, STEEL K, WHITE JA, PERICAK-VANCE MA. REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996 Annals of Human Genetics. 61: 183-206. DOI: 10.1017/S0003480097006106  0.236
2012 Lewis MA, Steel KP. A cornucopia of candidates for deafness. Cell. 150: 879-81. PMID 22939617 DOI: 10.1016/j.cell.2012.08.007  0.232
2012 Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of Medical Genetics. 49: 27-36. PMID 22135276 DOI: 10.1136/jmedgenet-2011-100468  0.228
2011 Kuhn S, Johnson SL, Furness DN, Chen J, Ingham N, Hilton JM, Steffes G, Lewis MA, Zampini V, Hackney CM, Masetto S, Holley MC, Steel KP, Marcotti W. miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cells. Proceedings of the National Academy of Sciences of the United States of America. 108: 2355-60. PMID 21245307 DOI: 10.1073/Pnas.1016646108  0.225
2017 Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, ... ... Steel KP, et al. Prevalence of sexual dimorphism in mammalian phenotypic traits. Nature Communications. 8: 15475. PMID 28650954 DOI: 10.1038/Ncomms15475  0.222
2003 Warner CL, Stewart A, Luzio JP, Steel KP, Libby RT, Kendrick-Jones J, Buss F. Loss of myosin VI reduces secretion and the size of the Golgi in fibroblasts from Snell's waltzer mice. The Embo Journal. 22: 569-79. PMID 12554657 DOI: 10.1093/Emboj/Cdg055  0.221
2009 Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, et al. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. The Journal of Clinical Investigation. 119: 3301-10. PMID 19855134 DOI: 10.1172/JCI37561  0.22
2013 Simon MM, Greenaway S, White JK, Fuchs H, Gailus-Durner V, Wells S, Sorg T, Wong K, Bedu E, Cartwright EJ, Dacquin R, Djebali S, Estabel J, Graw J, Ingham NJ, ... ... Steel KP, et al. A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biology. 14: R82. PMID 23902802 DOI: 10.1186/Gb-2013-14-7-R82  0.219
2002 Steel KP. Varitint-waddler: a double whammy for hearing. Proceedings of the National Academy of Sciences of the United States of America. 99: 14613-5. PMID 12417743 DOI: 10.1073/pnas.232585699  0.216
2013 Johnson SL, Kuhn S, Franz C, Ingham N, Furness DN, Knipper M, Steel KP, Adelman JP, Holley MC, Marcotti W. Presynaptic maturation in auditory hair cells requires a critical period of sensory-independent spiking activity. Proceedings of the National Academy of Sciences of the United States of America. 110: 8720-5. PMID 23650376 DOI: 10.1073/Pnas.1219578110  0.211
2015 de Nooij JC, Simon CM, Simon A, Doobar S, Steel KP, Banks RW, Mentis GZ, Bewick GS, Jessell TM. The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 3073-84. PMID 25698744 DOI: 10.1523/Jneurosci.3699-14.2015  0.206
2013 Linden Phillips L, Bitner-Glindzicz M, Lench N, Steel KP, Langford C, Dawson SJ, Davis A, Simpson S, Packer C. The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss. International Journal of Audiology. 52: 124-33. PMID 23131088 DOI: 10.3109/14992027.2012.733424  0.204
2021 Birling MC, Yoshiki A, Adams DJ, Ayabe S, Beaudet AL, Bottomley J, Bradley A, Brown SDM, Bürger A, Bushell W, Chiani F, Chin HG, Christou S, Codner GF, DeMayo FJ, ... ... Steel KP, et al. A resource of targeted mutant mouse lines for 5,061 genes. Nature Genetics. PMID 33833456 DOI: 10.1038/s41588-021-00825-y  0.204
2016 Lewis MA, Buniello A, Hilton JM, Zhu F, Zhang WI, Evans S, van Dongen S, Enright AJ, Steel KP. Exploring regulatory networks of miR-96 in the developing inner ear. Scientific Reports. 6: 23363. PMID 26988146 DOI: 10.1038/srep23363  0.202
2009 Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA. Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nature Genetics. 41: 609-13. PMID 19363479 DOI: 10.1038/ng.355  0.198
2015 Tuck E, Estabel J, Oellrich A, Maguire AK, Adissu HA, Souter L, Siragher E, Lillistone C, Green AL, Wardle-Jones H, Carragher DM, Karp NA, Smedley D, Adams NC, ... ... Steel KP, et al. A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease Models & Mechanisms. 8: 1467-78. PMID 26398943 DOI: 10.1242/Dmm.021238  0.192
2012 Nijnik A, Clare S, Hale C, Chen J, Raisen C, Mottram L, Lucas M, Estabel J, Ryder E, Adissu H, Adams NC, Ramirez-Solis R, White JK, Steel KP, et al. The role of sphingosine-1-phosphate transporter Spns2 in immune system function. Journal of Immunology (Baltimore, Md. : 1950). 189: 102-11. PMID 22664872 DOI: 10.4049/Jimmunol.1200282  0.188
2009 Rzadzinska AK, Nevalainen EM, Prosser HM, Lappalainen P, Steel KP. MyosinVIIa interacts with Twinfilin-2 at the tips of mechanosensory stereocilia in the inner ear. Plos One. 4: e7097. PMID 19774077 DOI: 10.1371/journal.pone.0007097  0.178
2010 Lewis MA, Steel KP. MicroRNAs in mouse development and disease. Seminars in Cell & Developmental Biology. 21: 774-80. PMID 20152923 DOI: 10.1016/j.semcdb.2010.02.004  0.147
2015 Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. European Journal of Human Genetics : Ejhg. PMID 25649381 DOI: 10.1038/Ejhg.2014.283  0.121
2023 Zaghloul MMY, Steel K, Veidt M, Heitzmann MT. Mechanical and Tribological Performances of Thermoplastic Polymers Reinforced with Glass Fibres at Variable Fibre Volume Fractions. Polymers. 15. PMID 36771995 DOI: 10.3390/polym15030694  0.04
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