Screening of known disease genes in congenital scoliosis-Reference-Cited by-同舟云学术

Screening of known disease genes in congenital scoliosis

Published:2018-09-09 Issue:6 Volume:6 Page:966-974
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Takeda Kazuki¹²^ORCID,Kou Ikuyo¹,Mizumoto Shuji³⁴,Yamada Shuhei³,Kawakami Noriaki⁵,Nakajima Masahiro¹,Otomo Nao¹²,Ogura Yoji¹²,Miyake Noriko⁶,Matsumoto Naomichi⁶,Kotani Toshiaki⁷,Sudo Hideki⁸,Yonezawa Ikuho⁹,Uno Koki¹⁰,Taneichi Hiroshi¹¹,Watanabe Kei¹²,Shigematsu Hideki¹³,Sugawara Ryo¹⁴,Taniguchi Yuki¹⁵,Minami Shohei⁷,Nakamura Masaya²,Matsumoto Morio²,Watanabe Kota²,Ikegawa Shiro¹,

Affiliation:

1. Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences; RIKEN; Tokyo Japan

2. Department of Orthopaedic Surgery; Keio University School of Medicine; Tokyo Japan

3. Department of Pathobiochemistry, Faculty of Pharmacy; Meijo University; Nagoya Japan

4. Department of Women’s and Children’s Health, Dunedin School of Medicine; University of Otago; Dunedin New Zealand

5. Department of Orthopaedic Surgery; Meijo Hospital; Nagoya Japan

6. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

7. Department of Orthopaedic Surgery; Seirei Sakura Citizen Hospital; Sakura Japan

8. Department of Advanced Medicine for Spine and Spinal Cord Disorders; Hokkaido University Graduate School of Medicine; Sapporo Japan

9. Department of Orthopaedic Surgery; Juntendo University School of Medicine; Tokyo Japan

10. Department of Orthopaedic Surgery; National Hospital Organization, Kobe Medical Center; Kobe Japan

11. Department of Orthopaedic Surgery; Dokkyo Medical University School of Medicine; Mibu Japan

12. Department of Orthopaedic Surgery; Niigata University Hospital; Niigata Japan

13. Department of Orthopedic Surgery; Nara Medical University; Kashihara Japan

14. Department of Orthopedics; Jichi Medical University; Shimotsuke Japan

15. Department of Orthopaedic Surgery, Faculty of Medicine; The University of Tokyo; Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Japan Orthopaedics and Traumatology Foundation

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.466/fullpdf

Reference40 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families;Akawi;Nature Genetics,2015

3. Wnt3a plays a major role in the segmentation clock controlling somitogenesis;Aulehla;Developmental Cell,2003

4. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;American Journal of Medical Genetics. Part A,2015

5. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village;Bonafe;Clinical Genetics,2003

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