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A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J. Li T, et al. Gene. 2019 Jul 1;704:113-120. doi: 10.1016/j.gene.2019.04.008. Epub 2019 Apr 8. Gene. 2019. PMID: 30974196 Review.
In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome type 3 (USH3) displaying hearing, visual acuity, and olfactory decline. ...We believe that this should be considered durin …
In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome …
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J. Pietola L, et al. Otol Neurotol. 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. Otol Neurotol. 2012. PMID: 22143301
BACKGROUND: Usher syndrome Type 3 (USH3) is an autosomal recessive disorder characterized by variable type and degree of progressive sensorineural hearing loss and retinitis pigmentosa. ...The postoperative hearing level (34 9 dB HL) and word recogniti …
BACKGROUND: Usher syndrome Type 3 (USH3) is an autosomal recessive disorder characterized by variable type and d …
Visual impairment in Finnish Usher syndrome type III.
Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF. Plantinga RF, et al. Acta Ophthalmol Scand. 2006 Feb;84(1):36-41. doi: 10.1111/j.1600-0420.2005.00507.x. Acta Ophthalmol Scand. 2006. PMID: 16445437 Free article.
PURPOSE: To evaluate visual impairment in Finnish Usher syndrome type 3 (USH3) and compare this with visual impairment in Usher syndrome types 1b (USH1b) and 2a (USH2a). ...Cross-sectional regression analyses of the functional acuity score (FAS) …
PURPOSE: To evaluate visual impairment in Finnish Usher syndrome type 3 (USH3) and compare this with visual impa …
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe retinal degeneration, and variably present vestibular dysfunction, assigned to 3q21-q25. ...Fifty-two Finnish patients were homozygous for …
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, sever …
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami S. Yoshimura H, et al. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:94S-9S. doi: 10.1177/0003489415574069. Epub 2015 Mar 5. Ann Otol Rhinol Laryngol. 2015. PMID: 25743179
OBJECTIVE: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. METHODS: Genetic analysis using massively parallel DNA sequencing (MPS) was con …
OBJECTIVE: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome …
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.
Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, Västinsalo H, Sankila EM, Flannery JG. Geller SF, et al. PLoS Genet. 2009 Aug;5(8):e1000607. doi: 10.1371/journal.pgen.1000607. Epub 2009 Aug 14. PLoS Genet. 2009. PMID: 19680541 Free PMC article.
Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. ...If CLRN1 expression in humans is comparable to the expression pattern observed in mice, this is the first rep …
Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive bli …
Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly.
Ogun O, Zallocchi M. Ogun O, et al. J Cell Biol. 2014 Nov 10;207(3):375-91. doi: 10.1083/jcb.201404016. Epub 2014 Nov 3. J Cell Biol. 2014. PMID: 25365995 Free PMC article.
Clarin-1 is a four-transmembrane protein expressed by hair cells and photoreceptors. Mutations in its corresponding gene are associated with Usher syndrome type 3, characterized by late-onset and progressive hearing and vision loss in humans. ...In thi …
Clarin-1 is a four-transmembrane protein expressed by hair cells and photoreceptors. Mutations in its corresponding gene are associated with …