Publications by authors named "Shinsei Minoshima"

Claim this Profile
I
Identification of susceptibility loci for light-induced visual impairment in rats.
Kentaro Ohishi, Katsuhiro Hosono, Akira Obana, Akio Noda, Tadahisa Hiramitsu, Shinsei Minoshima

Exp Eye Res· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
Muhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, Shiro Nakao, Kazue Yoshida, Shinsei Minoshima

J Hum Genet· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
Muhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, Shiro Nakao, Kazue Yoshida, Shinsei Minoshima

J Hum Genet· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
Katsuhiro Hosono, Kazuhide Kawase, Kentaro Kurata, Yusuke Niimi, Hirotomo Saitsu, Shinsei Minoshima

Ophthalmic Genet· April 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel frameshift and known missense variants.
Muhammad Nazmul Haque, Kentaro Kurata, Katsuhiro Hosono, Masafumi Ohtsubo, Kentaro Ohishi, Shinsei Minoshima

Hum Genome Var· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima

Jpn J Ophthalmol· July 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Shinsei Minoshima

Semin Ophthalmol· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, Satoshi Katagiri, Hirotomo Saitsu, Shinsei Minoshima

Sci Rep· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.
Chunxia Wang, Katsuhiro Hosono, Shu Kachi, Kimiko Suto, Makoto Nakamura, Shinsei Minoshima

Hum Genome Var· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology.
Jie Gao, Masafumi Ohtsubo, Yoshihiro Hotta, Shinsei Minoshima

PLoS One· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
Susumu Mitsuyama, Masafumi Ohtsubo, Shinsei Minoshima, Nobuyoshi Shimizu

Hum Mutat· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Katsuhiro Hosono, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima

J Ophthalmol· June 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Yang Zhao, Katsuhiro Hosono, Kimiko Suto, Chie Ishigami, Yuuki Arai, Shinsei Minoshima

J Hum Genet· September 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Shinichi Moriwaki, Hiroshi Saruwatari, Tamotsu Kanzaki, Takuro Kanekura, Shinsei Minoshima

J Dermatol· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.
Kimiko Suto, Katsuhiro Hosono, Masayo Takahashi, Yasuhiko Hirami, Yuki Arai, Shinsei Minoshima

Ophthalmic Genet· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Interaction between optineurin and the bZIP transcription factor NRL.
Chunxia Wang, Katsuhiro Hosono, Masafumi Ohtsubo, Kentaro Ohishi, Jie Gao, Shinsei Minoshima

Cell Biol Int· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prediction of protein-destabilizing polymorphisms by manual curation with protein structure.
Craig Alan Gough, Keiichi Homma, Yumi Yamaguchi-Kabata, Makoto K Shimada, Ranajit Chakraborty, Shinsei Minoshima

PLoS One· May 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis.
Tomohiro Izumiyama, Shinsei Minoshima, Tetsuhiko Yoshida, Nobuyoshi Shimizu

Gene· December 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features of a Japanese case with Bothnia dystrophy.
Kazutoshi Nojima, Katsuhiro Hosono, Yang Zhao, Takaaki Toshiba, Akiko Hikoya, Shinsei Minoshima

Ophthalmic Genet· June 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Dong Ho Park, Yasuhiko Hirami, Shinsei Minoshima

PLoS One· June 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes.
Ismail Thanseem, Ayyappan Anitha, Kazuhiko Nakamura, Shiro Suda, Keiko Iwata, Shinsei Minoshima

Biol Psychiatry· March 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A prioritization analysis of disease association by data-mining of functional annotation of human genes.
Takayuki Taniya, Susumu Tanaka, Yumi Yamaguchi-Kabata, Hideki Hanaoka, Chisato Yamasaki, Shinsei Minoshima

Genomics· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
Hiroshi Nakanishi, Masafumi Ohtsubo, Satoshi Iwasaki, Yoshihiro Hotta, Shin-Ichi Usami, Shinsei Minoshima

J Hum Genet· July 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A case of aniridia with unilateral Peters anomaly.
Mayu Sawada, Miho Sato, Akiko Hikoya, Chunxia Wang, Shinsei Minoshima

J AAPOS· February 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.
Masafumi Ohtsubo, Miho Sato, Akiko Hikoya, Katsuhiro Hosono, Shinsei Minoshima

Jpn J Ophthalmol· November 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis