Search Results 1-20 of 196

  • 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

    … Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. … Here we report the development of an exon-skipping therapy using an antisense-oligonucleotide (ASO) for severe male X-linked Alport syndrome (XLAS). …

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

    IR 

  • A case of Alport syndrome with abnormality of retina and anterior capsule  [in Japanese]

    木全 正嗣 , 水口 忠 , 三宅 悠三 , 野村 僚子 , 山本 直樹 , 谷川 篤宏 , 堀口 正之

    臨床眼科 74(6), 721-728, 2020-06

  • 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. … Here, we focused on the α345(IV) heterotrimerization of α5(IV) missense mutant as a novel factor to further understand the pathophysiology of Alport syndrome. …

    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). … In current therapeutic approaches for the management of Alport syndrome, inhibitors of the renin angiotensin system (RAS) are typically prescribed. …

    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. …

    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. …

    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

    … Background: Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. …

    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

    … Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3-5 genes. …

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

    IR 

  • The pathogenesis and treatment of hereditary nephritis  [in Japanese]

    川崎 幸彦

    腎臓内科・泌尿器科 = Nephrology & urology 9(5), 477-482, 2019-05

    Ichushi Web 

  • Genetic disease of the kidney and the urinary tract  [in Japanese]

    長野 智那 , 野津 寛大 , 飯島 一誠

    腎臓内科・泌尿器科 = Nephrology & urology 9(5), 425-429, 2019-05

    Ichushi Web 

  • Features of Autosomal Recessive Alport Syndrome: A Systematic Review

    Lee Jiwon M. , Nozu Kandai , Choi Dae Eun , Kang Hee Gyung , Ha II-Soo , Cheong Hae II

    Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). … A systematic review was conducted on autosomal recessive Alport syndrome (ARAS). …

    Journal of Clinical Medicine 8(2), 178, 2019-02-03

    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

    Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. … It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). …

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

    IR  Ichushi Web 

  • Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome  [in Japanese]

    堀之内 智子 , 野津 寛大 , 飯島 一誠

    日本腎臓学会誌 = The Japanese journal of nephrology 61(8), 1136-1138, 2019

    Ichushi Web 

  • Long-term follow-up in cases of Alport syndrome  [in Japanese]

    Matsui Hirooki , Ito Tsukasa , Kubota Toshinori , Shinkawa Chikako , Chiba Hiroyuki , Yonezawa Yumi , Kakehata Seiji

    … <p>要旨: Alport 症候群は, 腎炎, 眼症状に加えて, 緩徐に進行する両側性感音難聴をきたす症候群であるが, 聴力経過や個々の症例について検討した報告は少ない。 … 今回, Alport 症候群において, 耳鼻咽喉科で長期に経過観察した症例は男性3例であった。 …

    AUDIOLOGY JAPAN 62(4), 299-306, 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

    … <p>Alport 症候群は,IV 型コラーゲンα 鎖の異常により,進行性腎障害,感音性難聴,眼科的異常を来す遺伝性疾患である。 … 今回我々は,3 歳児検尿で血尿・蛋白尿を指摘され,7 歳時の第1 回腎生検で非IgA メサンギウム増殖性腎炎と暫定診断され,11 歳時の第2 回腎生検のIV 型コラーゲン染色によりAlport 症候群と診断した男児例を経験した。 …

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

    J-STAGE  Ichushi Web 

  • The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

    Minamikawa Shogo , Nozu Kandai , Maeta Shingo , Yamamura Tomohiko , Nakanishi Keita , Fujimura Junya , Horinouchi Tomoko , Nagano China , Sakakibara Nana , Nagase Hiroaki , Shima Hideaki , Noda Kenta , Ninchoji Takeshi , Kaito Hiroshi , Iijima Kazumoto

    … We collected 65 urine samples from 55 patients with MCD (n = 31), FSGS (n = 4), inherited nephrotic syndrome (n = 4), Alport syndrome (n = 5) and other glomerular diseases (n = 11), and control samples (n = 30). …

    Scientific Reports (8), 17322, 2018-11-23

    IR 

  • 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

    Background: Comprehensive genetic approaches for diagnosing inherited kidney diseases using next-generation sequencing (NGS) have recently been established. However, even with these approaches, we are …

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

    IR  Ichushi Web 

  • Donor selection in Alport syndrome  [in Japanese]

    中西 浩一

    日本臨床腎移植学会雑誌 = Journal of Japanese Society for Clinical Renal Transplantation 6(1), 30-36, 2018-07

    Ichushi Web 

  • Kidney Donation from Heterozygous Females with Fabry Disease and Alport Syndrome  [in Japanese]

    祖父江 理 , 上田 修史 , 串田 吉生 , 西岡 聡

    日本臨床腎移植学会雑誌 = Journal of Japanese Society for Clinical Renal Transplantation 6(1), 11-18, 2018-07

    Ichushi Web 

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