Literature DB >> 21964831

A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?

Tomoki Kosho, Noriko Miyake, Shuji Mizumoto, Atsushi Hatamochi, Yoshimitsu Fukushima, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto.   

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Year:  2011        PMID： 21964831     DOI： 10.1002/humu.21586

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Authors:  Andreas R Janecke; Ben Li; Manfred Boehm; Birgit Krabichler; Marianne Rohrbach; Thomas Müller; Irene Fuchs; Gretchen Golas; Yasuhiro Katagiri; Shira G Ziegler; William A Gahl; Yael Wilnai; Nicoletta Zoppi; Herbert M Geller; Cecilia Giunta; Anne Slavotinek; Beat Steinmann
Journal:  Am J Med Genet A       Date:  2015-09-16       Impact factor: 2.802

Review 2.  Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Authors:  Shuji Mizumoto; Tomoki Kosho; Shuhei Yamada; Kazuyuki Sugahara
Journal:  Pharmaceuticals (Basel)       Date:  2017-03-27

3.  A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.

Authors:  Yuko Nitahara-Kasahara; Shuji Mizumoto; Yukiko U Inoue; Shota Saka; Guillermo Posadas-Herrera; Aki Nakamura-Takahashi; Yuki Takahashi; Ayana Hashimoto; Kohei Konishi; Shinji Miyata; Chiaki Masuda; Emi Matsumoto; Yasunobu Maruoka; Takahiro Yoshizawa; Toshiki Tanase; Takayoshi Inoue; Shuhei Yamada; Yoshihiro Nomura; Shin'ichi Takeda; Atsushi Watanabe; Tomoki Kosho; Takashi Okada
Journal:  Dis Model Mech       Date:  2021-12-23       Impact factor: 5.758

4.  Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Authors:  Mari Minatogawa; Ai Unzaki; Hiroko Morisaki; Delfien Syx; Tohru Sonoda; Andreas R Janecke; Anne Slavotinek; Nicol C Voermans; Yves Lacassie; Roberto Mendoza-Londono; Klaas J Wierenga; Parul Jayakar; William A Gahl; Cynthia J Tifft; Luis E Figuera; Yvonne Hilhorst-Hofstee; Alessandra Maugeri; Ken Ishikawa; Tomoko Kobayashi; Yoko Aoki; Toshihiro Ohura; Hiroshi Kawame; Michihiro Kono; Kosuke Mochida; Chiho Tokorodani; Kiyoshi Kikkawa; Takayuki Morisaki; Tetsuyuki Kobayashi; Takaya Nakane; Akiharu Kubo; Judith D Ranells; Ohsuke Migita; Glenda Sobey; Anupriya Kaur; Masumi Ishikawa; Tomomi Yamaguchi; Naomichi Matsumoto; Fransiska Malfait; Noriko Miyake; Tomoki Kosho
Journal:  J Med Genet       Date:  2021-11-23       Impact factor: 5.941
  4 in total

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