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Molecular Biology

D-Index
71
Citations
15726
World Ranking
1386
National Ranking
705

Overview

Shunji Tomatsu is affiliated with the Alfred I. duPont Hospital for Children in the United States. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with significant contributions in subfields including Physiology, Molecular Biology, Genetics, Epidemiology, and Organic Chemistry.

Their scholarly output focuses extensively on several specialized topics. Key areas of research include:

  • Lysosomal Storage Disorders Research
  • Trypanosoma species research and implications
  • Virus-based gene therapy research
  • Carbohydrate Chemistry and Synthesis
  • CRISPR and Genetic Engineering
  • Glycosylation and Glycoproteins Research
  • Glycogen Storage Diseases and Myoclonus

Their work appears frequently in journals such as:

  • Molecular Genetics and Metabolism
  • International Journal of Molecular Sciences
  • Diagnostics
  • Molecular Therapy - Methods & Clinical Development
  • bioRxiv (Cold Spring Harbor Laboratory)

Among recent publications associated with Shunji Tomatsu are:

  • Epidemiology of Mucopolysaccharidoses Update, 2021, published in Diagnostics
  • Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management, 2020, published in International Journal of Molecular Sciences
  • Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms, 2020, published in Journal of Clinical Medicine
  • Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets, 2022, published in International Journal of Molecular Sciences
  • Advances in glycosaminoglycan detection, 2020, published in Molecular Genetics and Metabolism

Throughout their career, Shunji Tomatsu has collaborated frequently with several researchers, including:

  • Shaukat Khan
  • Betül Çelik
  • Andrés Felipe Leal
  • Estera Rintz
  • Yasuhiko Ago

Best Publications

  • Epidemiology of mucopolysaccharidoses

    Shaukat A. Khan;Hira Peracha;Diana Ballhausen;Alfred Wiesbauer

  • HFE gene knockout produces mouse model of hereditary hemochromatosis

    Xiao Yan Zhou;Shunji Tomatsu;Robert E. Fleming;Seppo Parkkila

  • Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

    Abdul Waheed;Seppo Parkkila;Xiao Yan Zhou;Shunji Tomatsu

  • Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

    Seppo Parkkila;Abdul Waheed;Robert S. Britton;Bruce R. Bacon

  • International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease

    A. M. Montaño;S. Tomatsu;G. S. Gottesman;M. Smith

  • Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis

    Robert E. Fleming;Mary C. Migas;Christopher C. Holden;Abdul Waheed

  • Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: Increased duodenal expression of the iron transporter DMT1

    Robert E. Fleming;Mary C. Migas;Xiao Yan Zhou;Jinxing Jiang

  • Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

    Abdul Waheed;Seppo Parkkila;Juha Saarnio;Robert E. Fleming

  • Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment

    S Tomatsu;A M Montaño;H Oikawa;M Smith

  • Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

    Robert E. Fleming;Christopher C. Holden;Shunji Tomatsu;Abdul Waheed

  • Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

    C.J. Hendriksz;P. Harmatz;M. Beck;S. Jones

  • Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis.

    Abdul Waheed;Jeffrey H. Grubb;Xiao Yan Zhou;Shunji Tomatsu

  • Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

    Shunji Tomatsu;Adriana M. Montaño;Tatsuo Nishioka;Monica A. Gutierrez

  • Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

    Shunji Tomatsu;Seiji Fukuda;Michiya Masue;Kazuko Sukegawa

  • Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry.

    Toshihiro Oguma;Shunji Tomatsu;Adriana M. Montano;Osamu Okazaki

  • Newborn screening and diagnosis of mucopolysaccharidoses

    Shunji Tomatsu;Tadashi Fujii;Masaru Fukushi;Toshihiro Oguma

  • Growth charts for patients affected with Morquio A disease

    Adriana M. Montaño;Shunji Tomatsu;Ana Brusius;Mary Smith

  • Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future

    Madeleine Taylor;Madeleine Taylor;Shaukat Khan;Molly Stapleton;Molly Stapleton;Jianmin Wang

  • Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with b2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells (degradationyGolgi processingyintracellular transportyironymajor histocompatibility complex class I protein)

    Abdul Waheed;Seppo Parkkila;Xiao Yan Zhou;Shunji Tomatsu

  • HFE gene knockout produces mouse model of hereditary hemochromatosis (major histocompatibility complex class I proteinyironyliverygene targeting)

    Xiao Yan Zhou;Shunji Tomatsu;Robert E. Fleming;S Eppo Parkkila

Frequent Co-Authors

Tadao Orii
Tadao Orii Gifu University
Yasuyuki Suzuki
Yasuyuki Suzuki Gifu University
Seiji Yamaguchi
Seiji Yamaguchi Shimane University
William S. Sly
William S. Sly Saint Louis University
Naomi Kondo
Naomi Kondo Gifu University
Toshiyuki Fukao
Toshiyuki Fukao Gifu University
Nobuyuki Shimozawa
Nobuyuki Shimozawa Gifu University
Roberto Giugliani
Roberto Giugliani Federal University of Rio Grande do Sul
Jeffrey H. Grubb
Jeffrey H. Grubb Saint Louis University
Abdul Waheed
Abdul Waheed Saint Louis University

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