WRNMutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects-Reference-Cited by-同舟云学术

WRNMutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Published:2016-10-07 Issue:1 Volume:38 Page:7-15
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Yokote Koutaro¹,Chanprasert Sirisak²,Lee Lin³,Eirich Katharina⁴,Takemoto Minoru¹,Watanabe Aki¹,Koizumi Naoko¹,Lessel Davor⁵,Mori Takayasu⁶,Hisama Fuki M.²,Ladd Paula D.³,Angle Brad⁷,Baris Hagit⁸,Cefle Kivanc⁹,Palanduz Sukru⁹,Ozturk Sukru⁹,Chateau Antoinette¹⁰,Deguchi Kentaro¹¹,Easwar T.K.M¹²,Federico Antonio¹³,Fox Amy¹⁴,Grebe Theresa A.¹⁵,Hay Beverly¹⁶,Nampoothiri Sheela¹⁷,Seiter Karen¹⁸,Streeten Elizabeth¹⁹,Piña-Aguilar Raul E.²⁰,Poke Gemma²¹,Poot Martin²²,Posmyk Renata²³²⁴,Martin George M.³,Kubisch Christian⁵,Schindler Detlev⁴,Oshima Junko¹³

Affiliation:

1. Department of Clinical Cell Biology and Medicine, Graduate School of Medicine; Chiba University; Chiba Japan

2. Department of Medicine, Division of Medical Genetics; University of Washington; Seattle Washington

3. Department of Pathology; University of Washington; Seattle Washington

4. Department of Human Genetics; University of Wuerzburg; Wuerzburg Germany

5. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

6. Department of Pediatrics, Division of Genetic Medicine; University of Washington; Seattle Washington

7. Advocate Lutheran General Hospital and Advocate Children's Hospital; Park Ridge Illinois

8. The Genetics Institute, Rambam Health Care Campus and Rappaport School of Medicine; Technion - Israel Institute of Technology; Haifa Israel

9. Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty; Istanbul University; Turkey

10. Department of Dermatology; Greys Hospital; Pietermaritzburg South Africa

11. Department of Neurology; Okayama City Hospital; Okayama Japan

12. Milestone Hospital; Rajkot India

13. Department of Medicine, Surgery and Neurosciences, Unit Clinical Neurology and Neurometabolic Diseases, Medical School; University of Siena; Siena Italy

14. Department of Dermatology; University of North Carolina; Chapel Hill North Carolina

15. Division of Genetics and Metabolism; Phoenix Children's Hospital; Phoenix Arizona

16. Division of Genetics; UMass Memorial Medical Center; Worcester Massachusetts

17. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Center; Kochi Kerala India

18. Department of Medicine; New York Medical College; Hawthorne New York

19. Division of Genetics; University of Maryland School of Medicine; Baltimore Maryland

20. Centro Médico Nacional 20 de Noviembre; ISSSTE; Mexico City Mexico

21. Genetic Health Service NZ; Wellington New Zealand

22. University Medical Center; Utrecht Netherlands

23. Department of Clinical Genetics; Podlaskie Medical Center; Bialystok Poland

24. Department of Perinatology; Medical University of Bialystok; Bialystok Poland

Funder

National Institutes of Health

National Institute on Aging

National Cancer Institute

Ministry of Health, Labour and Welfare of Japan

Agency for Medical Research and Development (AMED)

Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference95 articles.

1. A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies;Agrelo;Epigenetics,2015

2. Impact of vitamin C on the cardiometabolic and inflammatory profiles of mice lacking a functional Werner syndrome protein helicase;Aumailley;Exp Gerontol,2015a

3. Metabolic and phenotypic differences between mice producing a Werner syndrome helicase mutant protein and WRN null mice;Aumailley;PLoS One,2015b

4. Metformin as a tool to target aging;Barzilai;Cell Metab,2016

5. The non-synonymous polymorphism at position 114 of the WRN protein affects cholesterol efflux in vitro and correlates with cholesterol levels in vivo;Berube;Exp Gerontol,2013

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