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Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

Search for Noriyuki Azuma in:Nature Research journals • PubMed • Google Scholar Search for Yoshihiro Hotta in:Nature Research journals • PubMed • Google Scholar Contributions K.H. designed and performed ... approved publication of the manuscript. Competing Interests The authors declare no competing interests. Corresponding author Correspondence to Yoshihiro Hotta. Electronic supplementary material

Curative effect of HF10 on liver and peritoneal metastasis mediated by host antitumor immunity

Curative effect of HF10 on liver and peritoneal metastasis mediated by host antitumor immunity Yoshihiro Hotta,1 Hideki Kasuya,2 Itzel Bustos,2 Yoshinori Naoe,2 Toru Ichinose,2 Maki Tanaka,3 Yasuhiro

Evaluation of Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction Test

Purpose To clarify the efficacy of a surgical strategy based on the superior oblique tendon traction test. Methods A retrospective chart review was performed between January 2002 and June 2015. During that period, a single inferior oblique muscle (IO) myectomy and a combined IO myectomy and superior oblique muscle (SO) tuck procedure were performed based on SO tendon looseness as...

Oligomerization of Optineurin and Its Oxidative Stress- or E50K Mutation-Driven Covalent Cross-Linking: Possible Relationship with Glaucoma Pathology

The optineurin gene, OPTN, is one of the causative genes of primary open-angle glaucoma. Although oligomerization of optineurin in cultured cells was previously observed by gel filtration analysis and blue native gel electrophoresis (BNE), little is known about the characteristics of optineurin oligomers. Here, we aimed to analyze the oligomeric state of optineurin and factors...

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Shinsei Minoshima Yoshihiro Hotta Michael Edward Zwick, Emory University School Of Medicine, United States of America Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal