Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation-Reference-Cited by-同舟云学术

Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation

Published:2017-03-02 Issue:9 Volume:129 Page:1184-1196
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Ueda Yoshiyasu¹,Mohammed Imran¹,Song Delu²,Gullipalli Damodar¹,Zhou Lin¹,Sato Sayaka¹,Wang Yuan¹,Gupta Shuchi³,Cheng Zhongjian⁴,Wang Hong⁴,Bao Jialing⁵,Mao Yingying⁵,Brass Lawrence³,Zheng X. Long⁵⁶,Miwa Takashi¹,Palmer Matthew⁷,Dunaief Joshua²,Song Wen-Chao¹

Affiliation:

1. Department of Systems Pharmacology and Translational Therapeutics,

2. Department of Ophthalmology, and

3. Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;

4. Department of Pharmacology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA;

5. Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA;

6. Division of Laboratory Medicine, Department of Pathology, University of Alabama at Birmingham, Birmingham, AL; and

7. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Abstract

Key Points A point mutation in murine factor H (W1206R) impairs its interaction with host cells but does not affect its complement-regulating activity. W1206R mutant mice develop complement-mediated systemic thrombotic angiopathy leading to renal failure, stroke, and retinopathy.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/129/9/1184/1402804/blood728253.pdf

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