Top 20 of Usher Syndromes

Article title # Publications/# Citations

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

2006: KJürgens; TMärker; KNagel-Wolfrum; JReiners; UWolfrum;


A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

2007: TGoldmann; FFKersten; HKremer; TMaerker; JMcGee; NOverlack; RRoepman; ESehn; ... Evan Wijk; EJWalsh; UWolfrum;


Usher syndrome: molecular links of pathogenesis, proteins and pathways.

2006: HKremer; TMärker; RRoepman; Evan Wijk; UWolfrum;


Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

2005: AAdato; SChardenoux; BDelprat; AEl-Amraoui; GLefèvre; NMichalski; VMichel; CPetit; DWeil;


A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.

2008: EBizard; JPHardelin; GLefèvre; LLepelletier; VMichel; CPetit; DWeil; UWolfrum;


A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

2006: EAller; EBecirovic; HBolz; PCharbel Issa; IEbermann; BJurklies; JLamprecht; JMMillán; DMitter; HPScholl;


Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.

2007: DSWilliams;


Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.

2005: AEl-Amraoui; CPetit;


Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment.

2011: JLDuncan; ASLucero; BJLujan; TCPorco; KRatnam; ARoorda; SMSundquist; KETalcott; WTao;


Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

2005: KJürgens; MKnipper; HKremer; TMärker; NOverlack; JReiners; RRoepman; HTe Brinke; ... Evan Wijk; UWolfrum; UZimmermann;


How the genetics of deafness illuminates auditory physiology.

2011: JBde Monvel; CPetit; GPRichardson;


PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

2010: TBenzing; ABernd; BBlanco; HJBolz; MClaustres; CDafinger; IEbermann; RKKoenekoop; ... MCLiebau; ILopez; GNürnberg; PNürnberg; JBPhillips; AFRoux; RRuland; ESchäfer; BSchermer; MWesterfield; EZrenner;


Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.

2011: MGrati; BKachar;


Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.

2007: SMAzarian; DGibbs; THashimoto; ELegacki; CLillo; DSWilliams; XJYang; XMZhang;


Update on Usher syndrome.

2009: MBitner-Glindzicz; LLuxon; ZSaihan; ARWebster;


Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

2006: French Usher Syndrome Collaboration; SChambert; MClaustres; VFaugère; BGilbert; CHamel; SLe Guédard; SMalcolm; ... SMarlin; NPallares-Ruiz; AFRoux; AVielle;


A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

2009: HMElledge; JRHolt; BKachar; PKazmierczak; AKolatkar; PKuhn; ALelli; UMüller; ... MSchwander; ASczaniecka; LTarantino; JTokita; TWiltshire; WXiong;


Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

2012: WAhmad; ZMAhmed; JAkram; RAAli; PBAndrade-Elizondo; MAnsar; SAnwar; MAyub; ... SBasit; IABelyantseva; EKBuschbeck; TCook; TBFriedman; GIFrolenkov; APGiese; RSHegde; AAIndzhykulian; SNKhan; SMLeal; KLee; SLee; SPNandamuri; LVParise; SRiazuddin; SRiazuddin; GPSinha; ASirmaci; MTekin; DTerrell; AWali; RYousaf;


Cadherins and mechanotransduction by hair cells.

2008: UMüller;


Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

2008: TSAleman; AVCideciyan; SGJacobson; WJKimberling; HLRehm; AJRoman; SBSchwartz; ASumaroka; EAWindsor;