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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. ...
In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome …
Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome.
Xu L, Bolch SN, Santiago CP, Dyka FM, Akil O, Lobanova ES, Wang Y, Martemyanov KA, Hauswirth WW, Smith WC, Handa JT, Blackshaw S, Ash JD, Dinculescu A. Xu L, et al. J Pathol. 2020 Feb;250(2):195-204. doi: 10.1002/path.5360. Epub 2019 Dec 4. J Pathol. 2020. PMID: 31625146 Free PMC article.
Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clarin-1 (CLRN1), leading to combined progressive hearing loss and retinal degeneration. ...
Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clar …
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 …