Literature DB >> 21070929

Singleton-merten syndrome and impaired cardiac function.

Israel Valverde1, Eric Rosenthal, Aphrodite Tzifa, Pravin Desai, Aaron Bell, Kuberan Pushparajah, Shakeel Qureshi, Philipp Beerbaum, John Simpson.   

Abstract

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Year:  2010        PMID： 21070929     DOI： 10.1016/j.jacc.2010.02.078

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  4 in total

1.  Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Authors:  Mi-Ae Jang; Eun Kyoung Kim; Hesung Now; Nhung T H Nguyen; Woo-Jong Kim; Joo-Yeon Yoo; Jinhyuk Lee; Yun-Mi Jeong; Cheol-Hee Kim; Ok-Hwa Kim; Seongsoo Sohn; Seong-Hyeuk Nam; Yoojin Hong; Yong Seok Lee; Sung-A Chang; Shin Yi Jang; Jong-Won Kim; Myung-Shik Lee; So Young Lim; Ki-Sun Sung; Ki-Tae Park; Byoung Joon Kim; Joo-Heung Lee; Duk-Kyung Kim; Changwon Kee; Chang-Seok Ki
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

Review 2.  MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Authors:  Insa Buers; Gillian I Rice; Yanick J Crow; Frank Rutsch
Journal:  J Interferon Cytokine Res       Date:  2017-05       Impact factor: 2.607

3.  Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.

Authors:  Arda Ozyuksel; Cihangir Ersoy; Emir Canturk; Atif Akcevin
Journal:  BMJ Case Rep       Date:  2014-09-05

4.  HDX-MS reveals dysregulated checkpoints that compromise discrimination against self RNA during RIG-I mediated autoimmunity.

Authors:  Jie Zheng; Chen Wang; Mi Ra Chang; Swapnil C Devarkar; Brandon Schweibenz; Gogce C Crynen; Ruben D Garcia-Ordonez; Bruce D Pascal; Scott J Novick; Smita S Patel; Joseph Marcotrigiano; Patrick R Griffin
Journal:  Nat Commun       Date:  2018-12-18       Impact factor: 14.919
  4 in total

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