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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...

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese male twins with LCA. Methods. To identify causative mutations, 74 genes known to...

Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes

mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2A>G) during the mutation analysis of USH2A in Japanese Usher...

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

Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778

We examined for mitochondrial DNA (mtDNA) mutations at nucleotide positions(nt) 3460, 14,484, 9438, 9804, and 15,257 in ten Japanese patients with idiopathic optic neuropathy unassociated with a mutation at nt11,778. The mtDNAs were amplified by polymerase chain reaction (PCR), the products were digested with restriction enzymes, and the sizes of the fragments were analyzed on 8...

Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals

FREQUENCIES OF POLYMORPHISMS IN THE RHODOPSIN GENE OF JAPANESE RETINITIS PIGMENTOSA A N D NORMAL INDIVIDUALS Keiko FUJIKI 0 Hiroyuki KAWANO 0 Yoshihiro HOTTA 0 M u t s u k o HAYAKAWA 0 Marilou G

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

POINT MUTATIONS OF RHODOPSIN GENE F O U N D IN JAPANESE FAMILIES WITH AUTOSOMAL D O M I N A N T RETINITIS PIGMENTOSA (ADRP) Keiko FUJIKI 0 Yoshihiro HOTTA 0 Mutsuko HAYAKAWA 0 Hitoshi SAKUMA 0