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Koh-ichiro Yoshiura

Koh-ichiro Yoshiura

D-Index & Metrics

Genetics

D-Index
56
Citations
13947
World Ranking
3477
National Ranking
156

Overview

Koh-ichiro Yoshiura is affiliated with Nagasaki University in Japan. Their research spans multiple fields with a primary focus on Biochemistry, Genetics and Molecular Biology and Medicine. The scientist's work has also explored subfields such as Molecular Biology, Genetics, Immunology, Cardiology and Cardiovascular Medicine, and Public Health, Environmental and Occupational Health.

Yoshiura has contributed to research topics including:

  • Cardiac electrophysiology and arrhythmias
  • Genetic Syndromes and Imprinting
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Gestational Trophoblastic Disease Studies
  • Epigenetics and DNA Methylation
  • Mitochondrial Function and Pathology

Their recent publications include the following papers:

  • Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome, 2021, European Heart Journal
  • Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency, 2021, Nature Communications
  • Cardiac Emerinopathy, 2020, Circulation Arrhythmia and Electrophysiology
  • Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib, 2020, International Journal of Molecular Sciences
  • Autoinflammatory disease: clinical perspectives and therapeutic strategies, 2022, Inflammation and Regeneration

Frequent co-authors collaborating with Yoshiura include:

  • Hiroyuki Mishima
  • Akira Kinoshita
  • Naomasa Makita
  • Taisuke Ishikawa
  • Atsushi Kawakami

Yoshiura regularly publishes in specific academic venues, with multiple publications in the following journals:

  • Journal of Human Genetics
  • European Heart Journal
  • Inflammation and Regeneration
  • Scientific Reports
  • PLoS ONE

Best Publications

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

    Theresa M. Zucchero;Margaret E. Cooper;Brion S. Maher;Sandra Daack-Hirsch

  • Heterozygous TGFBR2 mutations in Marfan syndrome

    Takeshi Mizuguchi;Gwenaëlle Collod-Beroud;Takushi Akiyama;Marianne Abifadel

  • Haploinsufficiency of NSD1 causes Sotos syndrome

    Naohiro Kurotaki;Kiyoshi Imaizumi;Naoki Harada;Mitsuo Masuno

  • Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

    Kazuhiko Arima;Akira Kinoshita;Hiroyuki Mishima;Nobuo Kanazawa

  • A SNP in the ABCC11 gene is the determinant of human earwax type

    Koh Ichiro Yoshiura;Akira Kinoshita;Takafumi Ishida;Aya Ninokata

  • Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

    Akira Kinoshita;Takashi Saito;Hiro Aki Tomita;Yoshio Makita

  • Identification of pregnancy-associated microRNAs in maternal plasma.

    Kiyonori Miura;Shoko Miura;Kentaro Yamasaki;Ai Higashijima

  • Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

    Kazuya Kashiyama;Yuka Nakazawa;Daniela T. Pilz;Chaowan Guo

  • Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

    Mark C. Hannibal;Kati J. Buckingham;Sarah B. Ng;Jeffrey E. Ming

  • Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

    Yuka Nakazawa;Kensaku Sasaki;Norisato Mitsutake;Michiko Matsuse

  • MLL2 and KDM6A mutations in patients with Kabuki syndrome.

    Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  • A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

    A Okubo;O Miyoshi;K Baba;M Takagi

  • LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

    Takeshi Mizuguchi;Itsuko Furuta;Yukio Watanabe;Yukio Watanabe;Kazuhiro Tsukamoto

  • SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    Natalie D. Shaw;Natalie D. Shaw;Harrison Brand;Harrison Brand;Zachary A. Kupchinsky;Hemant Bengani

  • Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

    Masuzaki H;Miura K;Yoshiura Ki;Yoshimura S

  • Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion

    Naohiro Kurotaki;Naoki Harada;Osamu Shimokawa;Noriko Miyake

  • CHMP4B, a Novel Gene for Autosomal Dominant Cataracts Linked to Chromosome 20q

    Alan Shiels;Thomas M. Bennett;Harry L.S. Knopf;Koki Yamada

  • De novo SOX11 mutations cause Coffin–Siris syndrome

    Yoshinori Tsurusaki;Eriko Koshimizu;Hirofumi Ohashi;Shubha Phadke

  • Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

    Tomohiko Kayashima;Hidenori Matsuo;Akira Satoh;Tohru Ohta

Frequent Co-Authors

Norio Niikawa
Norio Niikawa Health Sciences University of Hokkaido
Naomichi Matsumoto
Naomichi Matsumoto Yokohama City University
Hirofumi Ohashi
Hirofumi Ohashi Saitama Children's Medical Center
Atsushi Kawakami
Atsushi Kawakami Nagasaki University
Yoshimitsu Fukushima
Yoshimitsu Fukushima Shinshu University
Nobuhiko Okamoto
Nobuhiko Okamoto Osaka University
Kiyoshi Migita
Kiyoshi Migita Fukushima Medical University
Katsumi Eguchi
Katsumi Eguchi Nagasaki University
Noriko Miyake
Noriko Miyake Yokohama City University
Kazunaga Agematsu
Kazunaga Agematsu Shinshu University

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