1 | BAIAP2L2, EPS8, MYO15A
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| Ca2+ entry through mechanotransduction channels localizes BAIAP2L2 to stereocilia tips
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| Halford J, Bateschell M, Barr-Gillespie PG.
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| Mol Biol Cell. Apr 1;33(4):br6. doi: 10.1091/mbc.E21-10-0491. Epub 2022 Jan 19. 2022
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2 | MYO15A
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| The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness.
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| Jiang F, Takagi Y, Shams A, Heissler SM, Friedman TB, Sellers JR, Bird JE.
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| J Biol Chem. Jan-Jun;296:100243. doi: 10.1074/jbc.RA120.014903. Epub 2021 Jan 9. 2021
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3 | CAPZB, EPS8, MYO15A, TWF2
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| Mechanotransduction-Dependent Control of Stereocilia Dimensions and Row Identity in Inner Hair Cells.
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| Krey JF, Chatterjee P, Dumont RA, O'Sullivan M, Choi D, Bird JE, Barr-Gillespie PG.
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| Curr Biol. 0 Feb 3;30(3):442-454.e7. doi: 10.1016/j.cub.2019.11.076. Epub 2020 Jan 2. 2020
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4 | DFNB3, MYO15A
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| MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation
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| Motavaf M, Soveizi M, Maleki M, Mahdieh N.
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| Int J Pediatr Otorhinolaryngol. May;96:35-38. doi: 10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6 2017
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5 | DFNB3, MYO15A
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| Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
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| Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB.
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| Hum Mutat. Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21 2016
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6 | DFNB3, MYO15A
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| Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
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| Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.
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| PLoS One. Jun 20;9(6):e100146. doi: 10.1371/journal.pone.0100146. 2014
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7 | EPS8, MYO15A, WHRN
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| Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8.
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| Manor U, Disanza A, Grati M, Andrade L, Lin H, Di Fiore PP, Scita G, Kachar B.
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| Curr Biol 21(2):167-72. Epub 2011 Jan 13. 2011
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8 | CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
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| Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
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| Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
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| Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663.
2011
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9 | CDH23, DFNB84, DFNB85, LHFPL5, MYO15A, MYO7A, PJVK, PTPRQ, TECTA, TMPRSS3
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| Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
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| Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.
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| Eur J Hum Genet 18(4):407-13. Epub 2009 Nov 4. 2010
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10 | MYO15A, DFNB3
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| Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
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| Nal N, Ahmed ZM, Erkal E, Alper OM, Lleci G, Din O, Waryah AM, Ain Q, Tasneem S, Husnain T, Chattaraj P, Riazuddin S, Boger E, Ghosh M, Kabra M, Riazuddin S, Morell RJ, Friedman TB.
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| Hum Mutat 28(10):1014-9. 2007
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11 | MYO15A, DFNB3
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| MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
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| Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Baerer N, Heister AJ, Hennies HC, Nrnberg P, Baaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H.
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| Am J Med Genet A 143(20):2382-9. 2007
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12 | MYO15A, WHRN
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| Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.
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| Kikkawa Y, Mburu P, Morse S, Kominami R, Townsend S, Brown SD.
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| Hum Mol Genet 14(3):391-400. Epub 2004 Dec 08. 2005
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13 | LRRC4C, MYO15A, MYO7A, WHRN
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| Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.
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| Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, Petit C.
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| Hum Mol Genet 14(3):401-10. Epub 2004 Dec 08. 2005
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14 | MYO15A
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| Localization of myosin XVA in endocrine tumors of gut and pancreas.
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| La Rosa S, Capella C, Lloyd RV.
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| Endocr Pathol 13(1):29-37. 2002
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15 | MYO15A
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| Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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| Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB.
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| Hum Genet 109(5):535-41. 2001
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16 | MYO15A
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| The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
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| Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA.
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| Hum Mol Genet 9(12):1729-38. 2000
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17 | DFNB3, MYO15A
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| Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.
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| Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, Fridell RA.
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| Genomics 61(3):243-58 1999
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18 | DFNB3, MYO15A
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| Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
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| Wang A, et al.
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| Science 280 : 1447-1451. 1998
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19 | EPB41, EPB41L2, KRIT1, MSN, MYO15A, MYO7A, NF2, PTPN14, PTPN21, PTPN3, RDX, EZR
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| The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
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| Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ Jr, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB, et al.
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| Trends Biochem Sci 23(8):281-2. Review. No abstract available 1998
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