Search Results 1-20 of 51

  • 1 / 3
  • Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay

    Horinouchi Tomoko , Yamamura Tomohiko , Minamikawa Shogo , Nagano China , Sakakibara Nana , Nakanishi Koichi , Shima Yuko , Morisada Naoya , Ishiko Shinya , Aoto Yuya , Nagase Hiroaki , Takeda Hiroki , Rossanti Rini , Ishimori Shingo , Kaito Hiroshi , Matsuo Masafumi , Iijima Kazumoto , Nozu Kandai

    … Background: X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. …

    Molecular Genetics & Genomic Medicine 8(8), e1342, 2020-08

    IR 

  • Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

    Yamamura Tomohiko , Horinouchi Tomoko , Adachi Tomomi , Terakawa Maki , Takaoka Yutaka , Omachi Kohei , Takasato Minoru , Takaishi Kiyosumi , Shoji Takao , Onishi Yoshiyuki , Kanazawa Yoshito , Koizumi Makoto , Tomono Yasuko , Sugano Aki , Shono Akemi , Minamikawa Shogo , Nagano China , Sakakibara Nana , Ishiko Shinya , Aoto Yuya , Kamura Misato , Harita Yutaka , Miura Kenichiro , Kanda Shoichiro , Morisada Naoya , Rossanti Rini , Ye Ming Juan , Nozu Yoshimi , Matsuo Masafumi , Kai Hirofumi , Iijima Kazumoto , Nozu Kandai

    … We targeted truncating variants in exon 21 of the COL4A5 gene and conducted a type IV collagen α3/α4/α5 chain triple helix formation assay, and in vitro and in vivo treatment efficacy evaluation. …

    Nature Communications 11(1), 2777, 2020-06-02

    IR 

  • Trimerization and genotype-phenotype correlation of COL4A5 mutants in Alport syndrome

    Kamura Misato , Yamamura Tomohiko , Omachi Kohei , Suico Mary Ann , Nozu Kandai , Kaseda Shota , Kuwazuru Jun , Shuto Tsuyoshi , Iijima Kazumoto , Kai Hirofumi

    … Introduction: Alport syndrome is a hereditary glomerulonephritis that results from the disruption of collagen α345(IV) heterotrimerization caused by mutation in COL4A3, COL4A4 or COL4A5 genes. …

    Kidney International Reports, 2020-01-30

    IR 

  • Pharmacological approach and diagnosis for Alport syndrome  [in Japanese]

    Kai Hirofumi , Suico Mary Ann , Shuto Tsuyoshi

    … <p>Alport syndrome is a hereditary glomerular disease caused by mutation in the <i>COL4A3, COL4A4</i>, or <i>COL4A5 </i>gene encoding type IV collagen alpha 3, alpha 4, and alpha 5 chains (alpha 3-alpha 5(IV)), respectively, which are components of the glomerular basement membrane (GBM). … The most common mutations are those in <i>COL4A5</i>, which comprise more than 80% of AS-associated mutations. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 1-JS1-3, 2020

    J-STAGE 

  • Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

    Horinouchi Tomoko , Nozu Kandai , Yamamura Tomohiko , Minamikawa Shogo , Nagano China , Sakakibara Nana , Nakanishi Koichi , Shima Yuko , Morisada Naoya , Ishiko Shinya , Aoto Yuya , Nagase Hiroaki , Takeda Hiroki , Rossanti Rini , Kaito Hiroshi , Matsuo Masafumi , Iijima Kazumoto

    … X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. … We conducted a functional splicing assay using a hybrid minigene for seven COL4A5 intronic mutations: one was identified by us and six were found in the Human Gene Mutation Database. …

    Scientific Reports 9(12696), 2019-09-03

    IR 

  • Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

    Horinouchi Tomoko , Nozu Kandai , Yamamura Tomohiko , Minamikawa Shogo , Nagano China , Sakakibara Nana , Nakanishi Koichi , Shima Yuko , Morisada Naoya , Ishiko Shinya , Aoto Yuya , Nagase Hiroaki , Takeda Hiroki , Rossanti Rini , Kaito Hiroshi , Matsuo Masafumi , Iijima Kazumoto

    … X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. … We conducted a functional splicing assay using a hybrid minigene for seven COL4A5 intronic mutations: one was identified by us and six were found in the Human Gene Mutation Database. …

    Scientific Reports (9), 12696, 2019-09-03

    IR 

  • Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

    Yamamura Tomohiko , Nozu Kandai , Minamikawa Shogo , Horinouchi Tomoko , Sakakibara Nana , Nagano China , Aoto Yuya , Ishiko Shinya , Nakanishi Koichi , Shima Yuko , Nagase Hiroaki , Rossanti Rini , Ye Ming J. , Nozu Yoshimi , Ishimori Shingo , Morisada Naoya , Kaito Hiroshi , Iijima Kazumoto

    … The initial mutational analysis method involved targeted exome sequencing using next‐generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 (n = 294, Sanger group). …

    Molecular Genetics & Genomic Medicine 7(9), 2019-09

    IR 

  • Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

    Yamamura Tomohiko , Nozu Kandai , Minamikawa Shogo , Horinouchi Tomoko , Sakakibara Nana , Nagano China , Aoto Yuya , Ishiko Shinya , Nakanishi Koichi , Shima Yuko , Nagase Hiroaki , Rossanti Rini , Ye Ming J. , Nozu Yoshimi , Ishimori Shingo , Morisada Naoya , Kaito Hiroshi , Iijima Kazumoto

    … The initial mutational analysis method involved targeted exome sequencing using next-generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 (n = 294, Sanger group). …

    Molecular Genetics & Genomic Medicine 7(9), e883, 2019-09

    IR 

  • A review of clinical characteristics and genetic backgrounds in Alport syndrome

    Nozu Kandai , Nakanishi Koichi , Abe Yoshifusa , Udagawa Tomohiro , Okada Shinichi , Okamoto Takayuki , Kaito Hiroshi , Kanemoto Katsuyoshi , Kobayashi Anna , Tanaka Eriko , Tanaka Kazuki , Hama Taketsugu , Fujimaru Rika , Miwa Saori , Yamamura Tomohiko , Yamamura Natsusmi , Horinouchi Tomoko , Minamikawa Shogo , Nagata Michio , Iijima Kazumoto

    … XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. …

    Clinical and Experimental Nephrology 23(2), 158-168, 2019-02

    IR  Ichushi Web 

  • Gene Test for Inherited Kidney Diseases and Development of Gene Targeted Therapy  [in Japanese]

    Nozu Kandai

    <p>小児期発症の腎疾患においては,遺伝性腎疾患がかなりの割合を占めており,小児期に末期腎不全へと進行する患者のうち,30%以上が遺伝性腎疾患を原疾患とすることが判明している.一方,成人領域においても,常染色体優性Alport症候群,遺伝性巣状分節性糸球体硬化症ならびに常染色体優性遺伝性尿細管間質性腎疾患等,これまで考えられていたよりもはるかに多い数の慢性腎炎患者が遺伝性腎疾患を有して …

    Nihon Naika Gakkai Zasshi 108(8), 1598-1606, 2019

    J-STAGE  Ichushi Web 

  • A case of non-IgA mesangial proliferative glomerulonephritis diagnosed as Alport syndrome by type IV collagen immunohistochemical staining  [in Japanese]

    Sato Tomoko , Asano Takako , Hashimoto Junya , Yamamoto Kazuna , Yamamura Tomohiko , Nozu Kandai , Iijima Kazumoto , Nonoyama Shigeaki

    … 遺伝形式はIV 型コラーゲンα5 鎖の染色パターンからは常染色体劣性型が疑われたが,遺伝子解析で<i>COL4A5</i> …

    Japanese journal of pediatric nephrology 32(1), 31-36, 2019

    J-STAGE  Ichushi Web 

  • Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

    Nagano China , Nozu Kandai , Morisada Naoya , Yazawa Masahiko , Ichikawa Daisuke , Numasawa Keita , Kourakata Hiroyo , Matsumura Chieko , Tazoe Satoshi , Tanaka Ryojiro , Yamamura Tomohiko , Minamikawa Shogo , Horinouchi Tomoko , Nakanishi Keita , Fujimura Junya , Sakakibara Nana , Nozu Yoshimi , Ye Ming Juan , Kaito Hiroshi , Iijima Kazumoto

    … With aCGH and/or MLPA, pathogenic CNV variants were confirmed: COL4A5 or HNF1B in two cases each, and EYA1, CLCNKB, or PAX2 in one each.Conclusion: We presented seven cases with CNVs in various genes that were screened by pair analysis. …

    Clinical and Experimental Nephrology 22(4), 881-888, 2018-08

    IR  Ichushi Web 

  • A review of clinical characteristics and genetic backgrounds in Alport syndrome

    長田 道夫 , Kandai Nozu , Koichi Nakanishi , Yoshifusa Abe , Tomohiro Udagawa , Shinichi Okada , Takayuki Okamoto , Hiroshi Kaito , Katsuyoshi Kanemoto , Anna Kobayashi , Eriko Tanaka , Kazuki Tanaka , Taketsugu Hama , Rika Fujimaru , Saori Miwa , Tomohiko Yamamura , Natsusmi Yamamura , Tomoko Horinouchi , Shogo Minamikawa , Michio NAGATA , Kazumoto Iijima

    … XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. …

    Clinical and experimental nephrology 23(2), 158-168, 2018-02

    IR 

  • A split-luciferase-based trimer formation assay as a high-throughput screening platform for therapeutics in Alport syndrome

    Suico Mary Ann , Kai Hirofumi , Omachi Kohei , Kamura Misato , Teramoto Keisuke , Kojima Haruka , Yokota Tsubasa , Kaseda Shota , Kuwazuru Jun , Shuto Tsuyoshi

    … The most common mutations are those in COL4A5, which comprise more than 80% of AS-associated mutations. … Correcting the trimerization of COL4A3/4/5 is a feasible therapeutic approach, but is hindered by lack of information on the regulation of intracellular COL4A5 chain and the absence of high-throughput screening (HTS) platforms to assess COL4A3/4/5 trimer formation. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society WCP2018(0), OR30-5, 2018

    J-STAGE 

  • Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome

    Yamamura Tomohiko , Nozu Kandai , Fu Xue Jun , Nozu Yoshimi , Ye Ming Juan , Shono Akemi , Yamanouchi Satoko , Minamikawa Shogo , Morisada Naoya , Nakanishi Koichi , Shima Yuko , Yoshikawa Norishige , Ninchoji Takeshi , Morioka Ichiro , Kaito Hiroshi , Iijima Kazumoto

    Introduction: X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-sta …

    Kidney International Reports 2(5), 850-855, 2017-09

    IR 

  • A birth of bipartite exon by intragenic deletion

    Nozu Kandai , Iijima Kazumoto , Igarashi Toru , Yamada Shiro , Kralovicova Jana , Nozu Yoshimi , Yamamura Tomohiko , Minamikawa Shogo , Morioka Ichiro , Ninchoji Takeshi , Kaito Hiroshi , Nakanishi Koichi , Vorechovsky Igor

    … Results The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome. … The exon was fully included in mature transcripts and introduced a stop codon in the shortened COL4A5 mRNA, illustrating pitfalls of inferring disease severity from DNA mutation alone. …

    Molecular Genetics & Genomic Medicine 5(3), 287-294, 2017-05

    IR 

  • A case of Alport-leiomyomatosis syndrome with leiomyoma in the esophagus and rectum  [in Japanese]

    Shudo Yusaku , Nagano China , Kuroyanagi Yoshiyuki , Kasahara Katsuaki , Gotoh Yoshimitsu

    … 患児の遺伝子解析では,患児はCOL4A5 からCOL4A6 までの広範囲にわたる欠失を認め,これまでの報告と同じ遺伝子の欠失パターンであった。 …

    Nihon Shoni Jinzobyo Gakkai Zasshi 30(1), 41-47, 2017

    J-STAGE  Ichushi Web 

  • A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

    Abe Yoshifusa , Shibata Takanori , Itabashi Kazuo , Iyoda Masayuki , Nozu Kandai , Hibino Satoshi , Hihara Kei , Yamaguchi Yutaka , Yamamura Tomohiko , Minamikawa Shogo , Iijima Kazumoto

    … <p>We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in <i>COL4A5</i>. …

    Internal Medicine 55(19), 2843-2847, 2016

    J-STAGE  Ichushi Web 

  • Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome

    Uchida Nao , Kumagai Naonori , Nozu Kandai , Fu Xue Jun , Iijima Kazumoto , Kondo Yoshiaki , Kure Shigeo

    COL4A5</i> … <i>COL4A5</i> …

    The Tohoku Journal of Experimental Medicine 240(3), 251-257, 2016

    J-STAGE  Ichushi Web 

  • <b>Morphological diagnosis of Alport syndrome and thin basement membrane nephropathy by low vacuum scanning electron micr</b><b>oscopy </b>

    OKADA Shinichi , INAGA Sumire , KITAMOTO Koichi , KAWABA Yasuo , NAKANE Hironobu , NAGURO Tomonori , KAIDOH Toshiyuki , KANZAKI Susumu

    … Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are genetic disorders caused by mutations of the type IV collagen genes <i>COL4A3</i>, <i>COL4A4</i>, and/or <i>COL4A5</i>. …

    Biomedical Research 35(5), 345-350, 2014

    J-STAGE  Ichushi Web 

  • 1 / 3
Page Top