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Items: 1 to 20 of 47


Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons.

Green JA, Yang J, Grati M, Kachar B, Bhat MA.

BMC Neurosci. 2013 Sep 6;14:96. doi: 10.1186/1471-2202-14-96.


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. 2012 Feb 1;21(3):692-710. doi: 10.1093/hmg/ddr503. Epub 2011 Nov 2.


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. 2011;17:1598-606. Epub 2011 Jun 15.


Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM.

Mol Vis. 2010 Mar 23;16:495-500.


Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.

Toiyama Y, Mizoguchi A, Kimura K, Hiro J, Tutsumi T, Inoue Y, Miki C, Kusunoki M.

Int J Oncol. 2009 Oct;35(4):709-15.


The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development.

Mogensen MM, Rzadzinska A, Steel KP.

Cell Motil Cytoskeleton. 2007 Jul;64(7):496-508.


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, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.


Elongation of hair cell stereocilia is defective in the mouse mutant whirler.

Holme RH, Kiernan BW, Brown SD, Steel KP.

J Comp Neurol. 2002 Aug 12;450(1):94-102.


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, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C.

Eur J Hum Genet. 2002 Mar;10(3):210-2.


A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate.

Paige AJ, Kiernan BW, Varela A, Rogers MJ, Hughes D, Steel KP, Brown SD.

Mamm Genome. 2000 Jan;11(1):51-7.


Metabolism rate, biochemical and endocrine alterations in male whirler mice.

Weltman AS, Sackler AM, Lewis AS, Johnson L.

Physiol Behav. 1970 Jan;5(1):17-22. No abstract available.


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. 2013;19:367-73. Epub 2013 Feb 13.


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. 2010 May 20;6(5):e1000955. doi: 10.1371/journal.pgen.1000955.


Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants.

Mustapha M, Beyer LA, Izumikawa M, Swiderski DL, Dolan DF, Raphael Y, Camper SA.

J Assoc Res Otolaryngol. 2007 Sep;8(3):329-37. Epub 2007 Jul 6.


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. 2005 Feb 1;14(3):391-400. Epub 2004 Dec 8.


Metabolic and endocrine differences between the mutation whirler and normal female mice.

Sackler AM, Weltman AS.

J Exp Zool. 1967 Mar;164(2):133-40. No abstract available.


RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.

Wright RN, Hong DH, Perkins B.

Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1519-29. doi: 10.1167/iovs.11-8845. Print 2012 Mar.


Non-USH2A mutations in USH2 patients.

Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C, Dollfus H, Lina-Granade G, Lespinasse J, David A, Isidor B, Morin G, Malcolm S, Tuffery-Giraud S, Claustres M, Roux AF.

Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6.


Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.

Zou J, Luo L, Shen Z, Chiodo VA, Ambati BK, Hauswirth WW, Yang J.

Invest Ophthalmol Vis Sci. 2011 Apr 12;52(5):2343-51. doi: 10.1167/iovs.10-6141. Print 2011 Apr.


Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.

Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB.

Nat Cell Biol. 2005 Feb;7(2):148-56. Epub 2005 Jan 16.


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