Citations for
1ADGRV1, PDZD7, USH1C, USH2A, WHRN
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.
Zou J, Chen Q, Almishaal A, Mathur PD, Zheng T, Tian C, Zheng QY, Yang J.
Hum Mol Genet 26(3):624-636. doi: 10.1093/hmg/ddw421. 2017
2USH1G, USH2A, WHRN
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Sorusch N, Bauß K, Plutniok J, Samanta A, Knapp B, Nagel-Wolfrum K, Wolfrum U.
Hum Mol Genet 26(6):1157-1172. doi: 10.1093/hmg/ddx027. 2017
3MYO7A, PDZD7, WHRN
PDZD7-MYO7A complex identified in enriched stereocilia membranes.
Morgan CP, Krey JF, Grati M, Zhao B, Fallen S, Kannan-Sundhari A, Liu XZ, Choi D, Müller U, Barr-Gillespie PG.
Elife 5. pii: e18312. doi: 10.7554/eLife.18312. 2016
4PDZD7, WHRN
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
Chen Q, Zou J, Shen Z, Zhang W, Yang J.
J Biol Chem 289(52):36070-88. doi: 10.1074/jbc.M114.610535. Epub 2014 Nov 18. 2014
5ADGRV1, USH2C, WHRN
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
García-García G, Besnard T, Baux D, Vaché C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF.
Mol Vis 19:367-73. Epub 2013 Feb 13. 2013
6WHRN
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.
Wang L, Zou J, Shen Z, Song E, Yang J.
Hum Mol Genet. 21(3):692-710 2012
7WHRN
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
Wright RN, Hong DH, Perkins B.
Invest Ophthalmol Vis Sci. 53(3):1519-29. 2012
8EPS8, 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
9USH2D, WHRN
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
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.
Mol Vis. 17:1598-606. 2011
10ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH2D, USH3A, WHRN
Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.
Zallocchi M, Sisson JH, Cosgrove D.
Biochemistry 49(6):1236-47.PMID: 20058854 2010
11USH2A, USH2D, WHRN
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
Yang J, Liu X, Zhao Y, Adamian M, Pawlyk B, Sun X, McMillan DR, Liberman MC, Li T.
PLoS Genet 6(5):e1000955. 2010
12WHRN
Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.
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.
Invest Ophthalmol Vis Sci. 51(5):2338-46. 2010
13ADGRV1, USH2A, USH2C, USH2D, WHRN
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.
Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ.
Eur J Hum Genet 17(1):80-4. Epub 2008 Jul 30. 2009
14ADGRV1, MYO7A, USH1G, VEZT, WHRN
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.
Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U.
Hum Mol Genet 17(1):71-86. Epub 2007 Sep 28. 2008
15USH2D, WHRN
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H.
Hum Genet 121(2):203-11. Epub 2006 Dec 15. 2007
16ADGRV1, USH2A, VEZT, WHRN
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C.
J Neurosci 27(24):6478-88. 2007
17ADGRV1, USH2A, WHRN
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
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.
Hum Mol Genet 15(5):751-65. Epub 2006 Jan 24. 2006
18EPB41, EPB41L1, MPP1, WHRN
Whirlin complexes with p55 at the stereocilia tip during hair cell development.
Mburu P, Kikkawa Y, Townsend S, Romero R, Yonekawa H, Brown SD.
Proc Natl Acad Sci U S A 103(29):10973-8. Epub 2006 Jul 7. 2006
19MYO15A, 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
20LRRC4C, 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
21WHRN
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H.
Hum Mutat 25(5):503. 2005
22AKNA, KIF12, WHRN
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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.
Nat Genet 34(4):421-8. 2003
23CASK, WHRN
CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.
Yap CC, Liang F, Yamazaki Y, Muto Y, Kishida H, Hayashida T, Hashikawa T, Yano R.
J Neurochem. 85(1):123-34. 2003
24WHRN
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C.
Eur J Hum Genet 10(3):210-2. 2002
25ATP10D, 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
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.
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O.
DNA Res 7(2):143-50. 2000