1 | ADGRV1, PDZD7, USH1C, USH2A, WHRN
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| The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.
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| Zou J, Chen Q, Almishaal A, Mathur PD, Zheng T, Tian C, Zheng QY, Yang J.
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| Hum Mol Genet 26(3):624-636. doi: 10.1093/hmg/ddw421.
2017
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2 | USH1G, USH2A, WHRN
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| Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
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| Sorusch N, Bauß K, Plutniok J, Samanta A, Knapp B, Nagel-Wolfrum K, Wolfrum U.
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| Hum Mol Genet 26(6):1157-1172. doi: 10.1093/hmg/ddx027.
2017
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3 | MYO7A, PDZD7, WHRN
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| PDZD7-MYO7A complex identified in enriched stereocilia membranes.
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| Morgan CP, Krey JF, Grati M, Zhao B, Fallen S, Kannan-Sundhari A, Liu XZ, Choi D, Müller U, Barr-Gillespie PG.
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| Elife 5. pii: e18312. doi: 10.7554/eLife.18312.
2016
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4 | PDZD7, WHRN
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| Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
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| Chen Q, Zou J, Shen Z, Zhang W, Yang J.
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| J Biol Chem 289(52):36070-88. doi: 10.1074/jbc.M114.610535. Epub 2014 Nov 18.
2014
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5 | ADGRV1, USH2C, WHRN
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| The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
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| García-García G, Besnard T, Baux D, Vaché C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF.
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| Mol Vis 19:367-73. Epub 2013 Feb 13. 2013
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6 | WHRN
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| Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.
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| Wang L, Zou J, Shen Z, Song E, Yang J.
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| Hum Mol Genet. 21(3):692-710 2012
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7 | WHRN
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| RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
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| Wright RN, Hong DH, Perkins B.
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| Invest Ophthalmol Vis Sci. 53(3):1519-29. 2012
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8 | 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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9 | USH2D, WHRN
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| A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
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| Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.
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| Mol Vis. 17:1598-606. 2011
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10 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH2D, USH3A, WHRN
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| Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.
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| Zallocchi M, Sisson JH, Cosgrove D.
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| Biochemistry 49(6):1236-47.PMID: 20058854 2010
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11 | USH2A, USH2D, WHRN
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| Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
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| Yang J, Liu X, Zhao Y, Adamian M, Pawlyk B, Sun X, McMillan DR, Liberman MC, Li T.
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| PLoS Genet 6(5):e1000955. 2010
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12 | WHRN
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| Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.
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| Kersten FF, van Wijk E, van Reeuwijk J, van der Zwaag B, Märker T, Peters TA, Katsanis N, Wolfrum U, Keunen JE, Roepman R, Kremer H.
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| Invest Ophthalmol Vis Sci. 51(5):2338-46. 2010
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13 | ADGRV1, USH2A, USH2C, USH2D, WHRN
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| An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
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| Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ.
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| Eur J Hum Genet 17(1):80-4. Epub 2008 Jul 30. 2009
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14 | ADGRV1, MYO7A, USH1G, VEZT, WHRN
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| A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.
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| Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U.
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| Hum Mol Genet 17(1):71-86. Epub 2007 Sep 28. 2008
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15 | USH2D, WHRN
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| A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
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| Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H.
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| Hum Genet 121(2):203-11. Epub 2006 Dec 15. 2007
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16 | ADGRV1, USH2A, VEZT, WHRN
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| Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
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| Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C.
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| J Neurosci 27(24):6478-88. 2007
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17 | ADGRV1, USH2A, WHRN
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| The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
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| van Wijk E, van der Zwaag B, Peters T, Zimmermann U, Te Brinke H, Kersten FF, Marker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H.
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| Hum Mol Genet 15(5):751-65. Epub 2006 Jan 24. 2006
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18 | EPB41, EPB41L1, MPP1, WHRN
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| Whirlin complexes with p55 at the stereocilia tip during hair cell development.
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| Mburu P, Kikkawa Y, Townsend S, Romero R, Yonekawa H, Brown SD.
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| Proc Natl Acad Sci U S A 103(29):10973-8. Epub 2006 Jul 7. 2006
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19 | 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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20 | 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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21 | WHRN
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| Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
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| Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H.
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| Hum Mutat 25(5):503. 2005
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22 | AKNA, KIF12, WHRN
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| Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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| 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, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD.
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| Nat Genet 34(4):421-8. 2003
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23 | CASK, WHRN
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| CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.
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| Yap CC, Liang F, Yamazaki Y, Muto Y, Kishida H, Hayashida T, Hashikawa T, Yano R.
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| J Neurochem. 85(1):123-34. 2003
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24 | WHRN
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| DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
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| Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C.
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| Eur J Hum Genet 10(3):210-2. 2002
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25 | ATP10D, BEGAIN, CALCOCO1, CDK5RAP2, CERCAM, CIP2A, DHX36, DHX37, DPP10, DTX2, GPR124, GRAMD1A, HCN3, ISLR2, KANK2, KBTBD2, KBTBD2, KIAA1468, KIAA1522, KLHL1, KMT2C, LRCH2, MARK1, MBD5, MYH7B, NUSAP1, PDZD4, PITPNM2, PLCE1, POGK, POLR3E, PPP2R2D, RACGAP1, RCC2, SCAPER, SDK2, SEMA6D, SH3RF1, SPPL2B, STIM2, TSHZ3, UBAP2, URG4, USP28, VPS18, WDR48, WHRN, ZBTB2, ZNF530
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| Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O.
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| DNA Res 7(2):143-50. 2000
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