Citations for
1BAIAP2L2, EPS8, MYO15A
Ca2+ entry through mechanotransduction channels localizes BAIAP2L2 to stereocilia tips
Halford J, Bateschell M, Barr-Gillespie PG.
Mol Biol Cell. Apr 1;33(4):br6. doi: 10.1091/mbc.E21-10-0491. Epub 2022 Jan 19. 2022
2MYO15A
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness.
Jiang F, Takagi Y, Shams A, Heissler SM, Friedman TB, Sellers JR, Bird JE.
J Biol Chem. Jan-Jun;296:100243. doi: 10.1074/jbc.RA120.014903. Epub 2021 Jan 9. 2021
3CAPZB, EPS8, MYO15A, TWF2
Mechanotransduction-Dependent Control of Stereocilia Dimensions and Row Identity in Inner Hair Cells.
Krey JF, Chatterjee P, Dumont RA, O'Sullivan M, Choi D, Bird JE, Barr-Gillespie PG.
Curr Biol. 0 Feb 3;30(3):442-454.e7. doi: 10.1016/j.cub.2019.11.076. Epub 2020 Jan 2. 2020
4DFNB3, MYO15A
MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation
Motavaf M, Soveizi M, Maleki M, Mahdieh N.
Int J Pediatr Otorhinolaryngol. May;96:35-38. doi: 10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6 2017
5DFNB3, MYO15A
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
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.
Hum Mutat. Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21 2016
6DFNB3, MYO15A
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
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.
PLoS One. Jun 20;9(6):e100146. doi: 10.1371/journal.pone.0100146. 2014
7EPS8, MYO15A, WHRN
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8.
Manor U, Disanza A, Grati M, Andrade L, Lin H, Di Fiore PP, Scita G, Kachar B.
Curr Biol 21(2):167-72. Epub 2011 Jan 13. 2011
8CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
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
9CDH23, DFNB84, DFNB85, LHFPL5, MYO15A, MYO7A, PJVK, PTPRQ, TECTA, TMPRSS3
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
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.
Eur J Hum Genet 18(4):407-13. Epub 2009 Nov 4. 2010
10MYO15A, DFNB3
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
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.
Hum Mutat 28(10):1014-9. 2007
11MYO15A, DFNB3
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
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.
Am J Med Genet A 143(20):2382-9. 2007
12MYO15A, WHRN
Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.
Kikkawa Y, Mburu P, Morse S, Kominami R, Townsend S, Brown SD.
Hum Mol Genet 14(3):391-400. Epub 2004 Dec 08. 2005
13LRRC4C, MYO15A, MYO7A, WHRN
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.
Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, Petit C.
Hum Mol Genet 14(3):401-10. Epub 2004 Dec 08. 2005
14MYO15A
Localization of myosin XVA in endocrine tumors of gut and pancreas.
La Rosa S, Capella C, Lloyd RV.
Endocr Pathol 13(1):29-37. 2002
15MYO15A
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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.
Hum Genet 109(5):535-41. 2001
16MYO15A
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA.
Hum Mol Genet 9(12):1729-38. 2000
17DFNB3, MYO15A
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.
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.
Genomics 61(3):243-58 1999
18DFNB3, MYO15A
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Wang A, et al.
Science 280 : 1447-1451. 1998
19EPB41, EPB41L2, KRIT1, MSN, MYO15A, MYO7A, NF2, PTPN14, PTPN21, PTPN3, RDX, EZR
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
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.
Trends Biochem Sci 23(8):281-2. Review. No abstract available 1998