Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis-Reference-Cited by-同舟云学术

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis

Published:2018-05-03 Issue:18 Volume:131 Page:2016-2025
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Shibata Hirofumi¹,Yasumi Takahiro¹,Shimodera Saeko¹,Hiejima Eitaro¹,Izawa Kazushi¹,Kawai Tomoki¹,Shirakawa Ryutaro²,Wada Taizo³,Nishikomori Ryuta¹,Horiuchi Hisanori²,Ohara Osamu⁴⁵,Ishii Eiichi⁶,Heike Toshio¹

Affiliation:

1. Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan;

2. Department of Molecular and Cellular Biology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan;

3. Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan;

4. Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan;

5. Kazusa DNA Research Institute, Kisarazu, Japan; and

6. Department of Pediatrics, Graduate School of Medicine, Ehime University, Toon, Japan

Abstract

Key Points A novel human CTL-based platform for comprehensive functional analysis of UNC13D variants is introduced. Pathogenicity of a reported UNC13D variant was determined by measuring expression of the translated munc13-4 protein.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/131/18/2016/1405902/blood812503.pdf

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