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ArticlesPeer ReviewedFull Text
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism
Author / Creator:Haque, Muhammad Nazmul ; Ohtsubo, Masafumi ; Nishina, Sachiko ; Nakao, Shiro ; Yoshida, Kazue ; Hosono, Katsuhiro ; Kurata, Kentaro ; Ohishi, Kentaro ; Fukami, Maki ; Sato, Miho ; Hotta, Yoshihiro ; Azuma, Noriyuki ; Minoshima, Shinsei
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-02, Vol.66 (2), p.205-214
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Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population
Author / Creator:Hosono, Katsuhiro ; Ishigami, Chie ; Takahashi, Masayo ; Park, Dong Ho ; Hirami, Yasuhiko ; Nakanishi, Hiroshi ; Ueno, Shinji ; Yokoi, Tadashi ; Hikoya, Akiko ; Fujita, Taichi ; Zhao, Yang ; Nishina, Sachiko ; Shin, Jae Pil ; Kim, In Taek ; Yamamoto, Shuichi ; Azuma, Noriyuki ; Terasaki, Hiroko ; Sato, Miho ; Kondo, Mineo ; Minoshima, Shinsei ; Hotta, Yoshihiro
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-02, Vol.7 (2), p.e31036-e31036
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Role of TBX1 in human del22q11.2 syndrome
Author / Creator:Yagi, Hisato ; Furutani, Yoshiyuki ; Hamada, Hiromichi ; Sasaki, Takashi ; Asakawa, Shuichi ; Minoshima, Shinsei ; Ichida, Fukiko ; Joo, Kunitaka ; Kimura, Misa ; Imamura, Shin-ichiro ; Kamatani, Naoyuki ; Momma, Kazuo ; Takao, Atsuyoshi ; Nakazawa, Makoto ; Shimizu, Nobuyoshi ; Matsuoka, Rumiko
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2003-10, Vol.362 (9393), p.1366-1373
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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
Author / Creator:Haque, Muhammad Nazmul ; Ohtsubo, Masafumi ; Nishina, Sachiko ; Nakao, Shiro ; Yoshida, Kazue ; Hosono, Katsuhiro ; Kurata, Kentaro ; Ohishi, Kentaro ; Fukami, Maki ; Sato, Miho ; Hotta, Yoshihiro ; Azuma, Noriyuki ; Minoshima, Shinsei
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-06, Vol.66 (6), p.645-645
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Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
Author / Creator:Shimura, Hideki ; Hattori, Nobutaka ; Kubo, Shin-ichiro ; Mizuno, Yoshikuni ; Asakawa, Shuichi ; Minoshima, Shinsei ; Shimizu, Nobuyoshi ; Iwai, Kazuhiro ; Chiba, Tomoki ; Tanaka, Keiji ; Suzuki, Toshiaki
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-07, Vol.25 (3), p.302-305
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Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology
Author / Creator:Gao, Jie ; Ohtsubo, Masafumi ; Hotta, Yoshihiro ; Minoshima, Shinsei
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-07, Vol.9 (7), p.e101206-e101206
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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Author / Creator:Kitada, Tohru ; Asakawa, Shuichi ; Hattori, Nobutaka ; Matsumine, Hiroto ; Yamamura, Yasuhiro ; Minoshima, Shinsei ; Yokochi, Masayuki ; Mizuno, Yoshikuni ; Shimizu, Nobuyoshi
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 1998-04, Vol.392 (6676), p.605-608
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Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations
Author / Creator:Kurata, Kentaro ; Hosono, Katsuhiro ; Hikoya, Akiko ; Kato, Akihiko ; Saitsu, Hirotomo ; Minoshima, Shinsei ; Ogata, Tsutomu ; Hotta, Yoshihiro
Publisher:Tokyo: Springer Japan
Journal title:Japanese journal of ophthalmology, 2018-07, Vol.62 (4), p.458-466
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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
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-09, Vol.59 (9), p.521-528
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ArticlesPeer ReviewedFull Text
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
Author / Creator:Haque, Muhammad Nazmul ; Kurata, Kentaro ; Hosono, Katsuhiro ; Ohtsubo, Masafumi ; Ohishi, Kentaro ; Sato, Miho ; Minoshima, Shinsei ; Hotta, Yoshihiro
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2019-04, Vol.6 (1), p.18-18, Article 18
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Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations
Author / Creator:Nakanishi, Hiroshi ; Ohtsubo, Masafumi ; Iwasaki, Satoshi ; Hotta, Yoshihiro ; Usami, Shin-ichi ; Mizuta, Kunihiro ; Mineta, Hiroyuki ; Minoshima, Shinsei
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-07, Vol.56 (7), p.484-490
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Distribution and effects of nonsense polymorphisms in human genes
Author / Creator:Yamaguchi-Kabata, Yumi ; Shimada, Makoto K ; Hayakawa, Yosuke ; Minoshima, Shinsei ; Chakraborty, Ranajit ; Gojobori, Takashi ; Imanishi, Tadashi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2008-10, Vol.3 (10), p.e3393-e3393
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Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes
Author / Creator:Nakanishi, Hiroshi ; Ohtsubo, Masafumi ; Iwasaki, Satoshi ; Hotta, Yoshihiro ; Mizuta, Kunihiro ; Mineta, Hiroyuki ; Minoshima, Shinsei
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2010-10, Vol.55 (10), p.701-703
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Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
Author / Creator:Hotta, Yoshihiro ; Sato, Miho ; Hikoya, Akiko ; Kurata, Kentaro ; Harada, Yuko ; Hosono, Katsuhiro ; Minoshima, Shinsei
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Journal of Ophthalmology, 2015-01, Vol.2015 (2015), p.1-10-180
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MutationView/KMcancerDB: A database for cancer gene mutations
Author / Creator:Shimizu, Nobuyoshi ; Ohtsubo, Masafumi ; Minoshima, Shinsei
Publisher:Melbourne, Australia: Blackwell Publishing Asia
Journal title:Cancer science, 2007-03, Vol.98 (3), p.259-267
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Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1
Author / Creator:Nakanishi, Hiroshi ; Ohtsubo, Masafumi ; Iwasaki, Satoshi ; Hotta, Yoshihiro ; Takizawa, Yoshinori ; Hosono, Katsuhiro ; Mizuta, Kunihiro ; Mineta, Hiroyuki ; Minoshima, Shinsei
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2010-12, Vol.55 (12), p.796-800
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Prediction of protein-destabilizing polymorphisms by manual curation with protein structure
Author / Creator:Gough, Craig Alan ; Homma, Keiichi ; Yamaguchi-Kabata, Yumi ; Shimada, Makoto K ; Chakraborty, Ranajit ; Fujii, Yasuyuki ; Iwama, Hisakazu ; Minoshima, Shinsei ; Sakamoto, Shigetaka ; Sato, Yoshiharu ; Suzuki, Yoshiyuki ; Tada-Umezaki, Masahito ; Nishikawa, Ken ; Imanishi, Tadashi ; Gojobori, Takashi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-11, Vol.7 (11), p.e50445
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Establishment and characterization of pleomorphic adenoma cell systems: an in-vitro demonstration of carcinomas arising secondarily from adenomas in the salivary gland
Author / Creator:Maruyama, Satoshi ; Cheng, Jun ; Shingaki, Susumu ; Tamura, Takashi ; Asakawa, Shuichi ; Minoshima, Shinsei ; Shimizu, Yoshiko ; Shimizu, Nobuyoshi ; Saku, Takashi
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2009-07, Vol.9 (1), p.247-247, Article 247
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Three novel mutations of the PAX6 gene in Japanese aniridia patients
Author / Creator:Kawano, Toshio ; Wang, Chunxia ; Hotta, Yoshihiro ; Sato, Miho ; Iwata-Amano, Emi ; Hikoya, Akiko ; Fujita, Naoya ; Koyama, Norihisa ; Shirai, Shoichiro ; Azuma, Noriyuki ; Ohtsubo, Masafumi ; Shimizu, Nobuyoshi ; Minoshima, Shinsei
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2007-07, Vol.52 (7), p.571-574
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Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation
Author / Creator:Ohtsubo, Masafumi ; Sato, Miho ; Hikoya, Akiko ; Hosono, Katsuhiro ; Minoshima, Shinsei ; Hotta, Yoshihiro
Publisher:Japan: Springer Japan
Journal title:Japanese journal of ophthalmology, 2010-11, Vol.54 (6), p.624-626
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Showing 1 to 20 of 45 results

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Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

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Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

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Role of TBX1 in human del22q11.2 syndrome

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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

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Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

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Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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

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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

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

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Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations

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Distribution and effects of nonsense polymorphisms in human genes

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

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

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MutationView/KMcancerDB: A database for cancer gene mutations

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

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Prediction of protein-destabilizing polymorphisms by manual curation with protein structure

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Establishment and characterization of pleomorphic adenoma cell systems: an in-vitro demonstration of carcinomas arising secondarily from adenomas in the salivary gland

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Three novel mutations of the PAX6 gene in Japanese aniridia patients

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Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation

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