Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population-Reference-Cited by-同舟云学术

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Published:2020-01-20 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Takeuchi Kazuhiko¹^ORCID,Xu Yifei¹^ORCID,Kitano Masako¹,Chiyonobu Kazuki¹,Abo Miki²,Ikegami Koji³,Ogawa Satoru⁴,Ikejiri Makoto⁵,Kondo Mitsuko⁶,Gotoh Shimpei⁷,Nagao Mizuho⁸,Fujisawa Takao⁸,Nakatani Kaname⁹

Affiliation:

1. Department of Otorhinolaryngology Head & Neck Surgery Mie University Graduate School of Medicine Tsu Japan

2. Department of Respiratory Medicine Kanazawa University Kanazawa Japan

3. Department of Anatomy and Developmental Biology Graduate School of Biomedical and Health Sciences Hiroshima University Hiroshima Japan

4. Electron Microscopy Research Center Mie University Graduate School of Medicine Tsu Japan

5. Department of Central Laboratories Mie University Hospital Tsu Japan

6. Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan

7. Department of Drug Discovery for Lung Diseases Graduate School of Medicine Kyoto University Kyoto Japan

8. Institute for Clinical Research National Hospital Organization Mie National Hospital Tsu Japan

9. Department of Genomic Medicine Mie University Hospital Tsu Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1137

Reference29 articles.

1. ATS/ERS Recommendations for Standardized Procedures for the Online and Offline Measurement of Exhaled Lower Respiratory Nitric Oxide and Nasal Nitric Oxide, 2005

2. Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

3. DRC2/CCDC65 is a central hub for assembly of the nexin–dynein regulatory complex and other regulators of ciliary and flagellar motility

4. Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

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