Works by Katsuhiro Hosono

Results: 27

Genotype-Phenotype Correlations in RP1 -Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2265, doi. 10.3390/jcm10112265

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Oishi, Noriko;
Kubota, Daiki;
Kameya, Shuhei;
Higasa, Koichiro;
Futami, Takuma;
Kondo, Hiroyuki;
Hosono, Katsuhiro;
Kurata, Kentaro;
Hotta, Yoshihiro;
Yoshitake, Kazutoshi;
Iwata, Takeshi;
Matsuura, Tomokazu;
Nakano, Tadashi

Publication type:

Article

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Published in:

Molecular Vision, 2018, v. 24, p. 286

By:

Satoshi Katagiri;
Katsuhiro Hosono;
Takaaki Hayashi;
Kentaro Kurata;
Kei Mizobuchi;
Tomokazu Matsuura;
Kazutoshi Yoshitake;
Takeshi Iwata;
Tadashi Nakano;
Yoshihiro Hotta

Publication type:

Article

Interaction between optineurin and the b ZIP transcription factor NRL.

Published in:

Cell Biology International, 2014, v. 38, n. 1, p. 16, doi. 10.1002/cbin.10174

By:

Wang, Chunxia;
Hosono, Katsuhiro;
Ohtsubo, Masafumi;
Ohishi, Kentaro;
Gao, Jie;
Nakanishi, Nobuo;
Hikoya, Akiko;
Sato, Miho;
Hotta, Yoshihiro;
Minoshima, Shinsei

Publication type:

Article

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.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 521, doi. 10.1038/jhg.2014.65

By:

Zhao, Yang;
Hosono, Katsuhiro;
Suto, Kimiko;
Ishigami, Chie;
Arai, Yuuki;
Hikoya, Akiko;
Hirami, Yasuhiko;
Ohtsubo, Masafumi;
Ueno, Shinji;
Terasaki, Hiroko;
Sato, Miho;
Nakanishi, Hiroshi;
Endo, Shiori;
Mizuta, Kunihiro;
Mineta, Hiroyuki;
Kondo, Mineo;
Takahashi, Masayo;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

Article

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 12, p. 796, doi. 10.1038/jhg.2010.115

By:

Nakanishi, Hiroshi;
Ohtsubo, Masafumi;
Iwasaki, Satoshi;
Hotta, Yoshihiro;
Takizawa, Yoshinori;
Hosono, Katsuhiro;
Mizuta, Kunihiro;
Mineta, Hiroyuki;
Minoshima, Shinsei

Publication type:

Article

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 3, doi. 10.1111/cge.14133

By:

Itai, Toshiyuki;
Wang, Zheng;
Nishimura, Gen;
Ohashi, Hirofumi;
Guo, Long;
Wakano, Yasuhiro;
Sugiura, Takahiro;
Hayakawa, Hiromi;
Okada, Mayumi;
Saisu, Takashi;
Kitta, Ayana;
Doi, Hiroshi;
Kurosawa, Kenji;
Hotta, Yoshihiro;
Hosono, Katsuhiro;
Sato, Miho;
Shimizu, Kenji;
Takikawa, Kazuharu;
Watanabe, Seiji;
Ikeda, Naho

Publication type:

Article

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.

Published in:

Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359

By:

Tachibana, Nobutaka;
Hosono, Katsuhiro;
Nomura, Shuhei;
Arai, Shinji;
Torii, Kaoruko;
Kurata, Kentaro;
Sato, Miho;
Shimakawa, Shuichi;
Azuma, Noriyuki;
Ogata, Tsutomu;
Wada, Yoshinao;
Okamoto, Nobuhiko;
Saitsu, Hirotomo;
Nishina, Sachiko;
Hotta, Yoshihiro

Publication type:

Article

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1518, doi. 10.3390/ijms20061518

By:

Kurata, Kentaro;
Hosono, Katsuhiro;
Miyamichi, Daisuke;
Sato, Miho;
Hotta, Yoshihiro;
Hayashi, Takaaki;
Mizobuchi, Kei;
Katagiri, Satoshi;
Nakano, Tadashi;
Nishina, Sachiko;
Azuma, Noriyuki

Publication type:

Article

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

Published in:

Ophthalmic Genetics, 2023, v. 44, n. 5, p. 480, doi. 10.1080/13816810.2022.2141788

By:

Hikoya, Akiko;
Hosono, Katsuhiro;
Ono, Kaoru;
Arai, Shinji;
Tachibana, Nobutaka;
Kurata, Kentaro;
Torii, Kaoruko;
Sato, Miho;
Saitsu, Hirotomo;
Ogata, Tsutomu;
Hotta, Yoshihiro

Publication type:

Article

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.

Published in:

Ophthalmic Genetics, 2020, v. 41, n. 2, p. 175, doi. 10.1080/13816810.2020.1744019

By:

Hosono, Katsuhiro;
Kawase, Kazuhide;
Kurata, Kentaro;
Niimi, Yusuke;
Saitsu, Hirotomo;
Minoshima, Shinsei;
Ohnishi, Hidenori;
Yamamoto, Takahiro;
Hikoya, Akiko;
Tachibana, Nobutaka;
Fukao, Toshiyuki;
Yamamoto, Tetsuya;
Hotta, Yoshihiro

Publication type:

Article

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 25, doi. 10.3109/13816810.2013.768673

By:

Suto, Kimiko;
Hosono, Katsuhiro;
Takahashi, Masayo;
Hirami, Yasuhiko;
Arai, Yuki;
Nagase, Yasunori;
Ueno, Shinji;
Terasaki, Hiroko;
Minoshima, Shinsei;
Kondo, Mineo;
Hotta, Yoshihiro

Publication type:

Article

Clinical features of a Japanese case with Bothnia dystrophy.

Published in:

Ophthalmic Genetics, 2012, v. 33, n. 2, p. 83, doi. 10.3109/13816810.2011.634877

By:

Nojima, Kazutoshi;
Hosono, Katsuhiro;
Zhao, Yang;
Toshiba, Takaaki;
Hikoya, Akiko;
Asai, Tatsuhiko;
Kato, Masaru;
Kondo, Mineo;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

Article

Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient.

Published in:

Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 77, doi. 10.1007/s10633-020-09752-5

By:

Katagiri, Satoshi;
Hosono, Katsuhiro;
Hayashi, Takaaki;
Murai, Noriyuki;
Wake, Eiichi;
Miyata, Ichiro;
Mizobuchi, Kei;
Kurata, Kentaro;
Matsuura, Tomokazu;
Nakano, Tadashi;
Hotta, Yoshihiro

Publication type:

Article

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Published in:

Documenta Ophthalmologica, 2020, v. 140, n. 2, p. 147, doi. 10.1007/s10633-019-09727-1

By:

Hayashi, Takaaki;
Hosono, Katsuhiro;
Kurata, Kentaro;
Katagiri, Satoshi;
Mizobuchi, Kei;
Ueno, Shinji;
Kondo, Mineo;
Nakano, Tadashi;
Hotta, Yoshihiro

Publication type:

Article

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Published in:

Documenta Ophthalmologica, 2018, v. 137, n. 1, p. 47, doi. 10.1007/s10633-018-9649-7

By:

Kurata, Kentaro;
Hosono, Katsuhiro;
Hotta, Yoshihiro

Publication type:

Article

Exophthalmos associated with chronic progressive external ophthalmoplegia.

Published in:

Japanese Journal of Ophthalmology, 2022, v. 66, n. 3, p. 314, doi. 10.1007/s10384-022-00920-5

By:

Takeda, Yu;
Suzuki, Hiroko;
Hosono, Katsuhiro;
Hikoya, Akiko;
Komori, Miwa;
Inagaki, Risako;
Haseoka, Takashi;
Arai, Shinji;
Takagi, Yuri;
Hotta, Yoshihiro;
Sato, Miho

Publication type:

Article

Regional differences in genes and variants causing retinitis pigmentosa in Japan.

Published in:

Japanese Journal of Ophthalmology, 2021, v. 65, n. 3, p. 338, doi. 10.1007/s10384-021-00824-w

By:

Koyanagi, Yoshito;
Akiyama, Masato;
Nishiguchi, Koji M;
Momozawa, Yukihide;
Kamatani, Yoichiro;
Takata, Sadaaki;
Inai, Chihiro;
Iwasaki, Yusuke;
Kumano, Mikako;
Murakami, Yusuke;
Komori, Shiori;
Gao, Dan;
Kurata, Kentaro;
Hosono, Katsuhiro;
Ueno, Shinji;
Hotta, Yoshihiro;
Murakami, Akira;
Terasaki, Hiroko;
Wada, Yuko;
Nakazawa, Toru

Publication type:

Article

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Published in:

Japanese Journal of Ophthalmology, 2018, v. 62, n. 4, p. 458, doi. 10.1007/s10384-018-0591-8

By:

Kurata, Kentaro;
Hosono, Katsuhiro;
Hikoya, Akiko;
Kato, Akihiko;
Saitsu, Hirotomo;
Minoshima, Shinsei;
Ogata, Tsutomu;
Hotta, Yoshihiro

Publication type:

Article

Long-term clinical course of 2 Japanese patients with <italic>PRPF31</italic>-related retinitis pigmentosa.

Published in:

Japanese Journal of Ophthalmology, 2018, v. 62, n. 2, p. 186, doi. 10.1007/s10384-017-0560-7

By:

Kurata, Kentaro;
Hosono, Katsuhiro;
Hotta, Yoshihiro

Publication type:

Article

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29891-9

By:

Katagiri, Satoshi;
Iwasa, Maki;
Hayashi, Takaaki;
Hosono, Katsuhiro;
Yamashita, Takahiro;
Kuniyoshi, Kazuki;
Ueno, Shinji;
Kondo, Mineo;
Ueyama, Hisao;
Ogita, Hisakazu;
Shichida, Yoshinori;
Inagaki, Hidehito;
Kurahashi, Hiroki;
Kondo, Hiroyuki;
Ohji, Masahito;
Hotta, Yoshihiro;
Nakano, Tadashi

Publication type:

Article

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00239-8

By:

Morikawa, Hazuki;
Nishina, Sachiko;
Torii, Kaoruko;
Hosono, Katsuhiro;
Yokoi, Tadashi;
Shigeyasu, Chika;
Yamada, Masakazu;
Kosuga, Motomichi;
Fukami, Maki;
Saitsu, Hirotomo;
Azuma, Noriyuki;
Hori, Yuichi;
Hotta, Yoshihiro

Publication type:

Article

Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0064-8

By:

Miyamichi, Daisuke;
Nishina, Sachiko;
Hosono, Katsuhiro;
Yokoi, Tadashi;
Kurata, Kentaro;
Sato, Miho;
Hotta, Yoshihiro;
Azuma, Noriyuki

Publication type:

Article

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0048-8

By:

Haque, Muhammad Nazmul;
Kurata, Kentaro;
Hosono, Katsuhiro;
Ohtsubo, Masafumi;
Ohishi, Kentaro;
Sato, Miho;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

Article

Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1500, doi. 10.1002/ajmg.a.61575

By:

Hayashi, Takaaki;
Hosono, Katsuhiro;
Kubo, Akiko;
Kurata, Kentaro;
Katagiri, Satoshi;
Mizobuchi, Kei;
Kurai, Minehiro;
Mamiya, Norihito;
Kondo, Mineo;
Tachibana, Toshiaki;
Saitsu, Hirotomo;
Ogata, Tsutomu;
Nakano, Tadashi;
Hotta, Yoshihiro

Publication type:

Article

Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.

Published in:

2018

By:

Nagase, Yasunori;
Kurata, Kentaro;
Hosono, Katsuhiro;
Suto, Kimiko;
Hikoya, Akiko;
Nakanishi, Hiroshi;
Mizuta, Kunihiro;
Mineta, Hiroyuki;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

journal article

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

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031036

By:

Hosono, Katsuhiro;
Ishigami, Chie;
Takahashi, Masayo;
Dong Ho Park;
Hirami, Yasuhiko;
Nakanishi, Hiroshi;
Ueno, Shinji;
Yokoi, Tadashi;
Hikoya, Akiko;
Fujita, Taichi;
Yang Zhao;
Nishina, Sachiko;
Jae Pil Shin;
In Taek Kim;
Yamamoto, Shuichi;
Azuma, Noriyuki;
Terasaki, Hiroko;
Sato, Miho;
Kondo, Mineo;
Minoshima, Shinsei

Publication type:

Article

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

Published in:

Journal of Ophthalmology, 2015, v. 2015, p. 1, doi. 10.1155/2015/693468

By:

Hosono, Katsuhiro;
Harada, Yuko;
Kurata, Kentaro;
Hikoya, Akiko;
Sato, Miho;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

Article