| Novel pathogenic WHRN variant causing hearing loss in a moroccan family. | Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
AitRaise I, Amalou G, Redouane S, Charoute H, Snoussi K, Abdelghaffar H, Bonnet C, Petit C, Barakat A. | 11/28/2023 |
| Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex. | Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.
Lin L, Shi Y, Wang M, Wang C, Lu Q, Zhu J, Zhang R. | 01/29/2022 |
| Folding and Misfolding of a PDZ Tandem Repeat. | Folding and Misfolding of a PDZ Tandem Repeat.
Visconti L, Malagrinò F, Troilo F, Pagano L, Toto A, Gianni S. | 06/19/2021 |
| Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. | Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Mathur PD, Yang J., Free PMC Article | 12/12/2020 |
| whirlin-espin interaction is important for the architecture of the USH2 complex and actin bundles cross-linked by espin. Our demonstration of whirlin N-terminal fragment interaction with espin, is significantly novel, providing insight into how these two proteins interact to form the USH2 complex. | Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.
Wang L, Wei B, Fu X, Wang Y, Sui Y, Ma J, Gong X, Hao J, Xing S., Free PMC Article | 04/4/2020 |
| two novel mutations in the WHRN and TMC1 genes are responsible for founder effects of hereditary hemochromatosis, Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree | Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
Olsson KS, Wålinder O, Jansson U, Wilbe M, Bondeson ML, Stattin EL, Raha-Chowdhury R, Williams R., Free PMC Article | 04/14/2018 |
| Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. | 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. | 05/20/2017 |
| Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa and whirlin, suggesting CIB2 is a Ca2+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells. | Usher proteins in inner ear structure and function.
Ahmed ZM, Frolenkov GI, Riazuddin S., Free PMC Article | 06/14/2014 |
| In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found. | 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., Free PMC Article | 09/7/2013 |
| Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis. | 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. | 06/9/2012 |
| A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. | 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., Free PMC Article | 11/19/2011 |
| DFNB31 is not a major cause of Usher syndrome. | 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, 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., Free PMC Articles: PMC2845667, PMC2845667 | 05/31/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesFollow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM, Castilla EE, Orioli IM, Marazita ML, Vieira AR. Family-based association study for bipolar affective disorder.
Secolin R, Banzato CE, Oliveira MC, Bittar MF, Santos ML, Dalgalarrondo P, Lopes-Cendes I. 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, 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. | 04/7/2010 |
| This paper concludes that this protein plays a role in photoreceptor and hair cell synapse organization in the related rat gene. | 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, Märker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H. | 03/5/2010 |
| This paper describes a PDZ domain protein and its role in synaptic transmission in the related rat gene. | 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. | 03/5/2010 |
| Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. | 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. | 01/21/2010 |
| analysis of a novel genetic subtype for Usher syndrome, USH2D, which is caused by mutations in whirlin | 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. | 01/21/2010 |
| Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. | 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. | 01/21/2010 |