Literature DB >> 21204240

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Jane C Ravenscroft1, Mohnish Suri, Gillian I Rice, Marcin Szynkiewicz, Yanick J Crow.   

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Year:  2011        PMID： 21204240     DOI： 10.1002/ajmg.a.33778

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  47 in total

Review 1.  Translating nucleic acid-sensing pathways into therapies.

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Review 2.  Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics.

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3.  A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

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Journal:  J Neurol       Date:  2013-08-30       Impact factor: 4.849

4.  Deregulated type I IFN response in TREX1-associated familial chilblain lupus.

Authors:  Katrin Peschke; Franziska Friebe; Nick Zimmermann; Tom Wahlicht; Tina Schumann; Martin Achleitner; Nicole Berndt; Hella Luksch; Rayk Behrendt; Min Ae Lee-Kirsch; Axel Roers; Claudia Günther
Journal:  J Invest Dermatol       Date:  2013-11-22       Impact factor: 8.551

Review 5.  Immunoinflammatory diseases of the central nervous system - the tale of two cytokines.

Authors:  M J Hofer; I L Campbell
Journal:  Br J Pharmacol       Date:  2015-06-12       Impact factor: 8.739

6.  The SAMHD1 dNTP Triphosphohydrolase Is Controlled by a Redox Switch.

Authors:  Christopher H Mauney; LeAnn C Rogers; Reuben S Harris; Larry W Daniel; Nelmi O Devarie-Baez; Hanzhi Wu; Cristina M Furdui; Leslie B Poole; Fred W Perrino; Thomas Hollis
Journal:  Antioxid Redox Signal       Date:  2017-04-18       Impact factor: 8.401

Review 7.  [Familial chilblain lupus : Type 1 interferonopathy with model character].

Authors:  C Fiehn
Journal:  Z Rheumatol       Date:  2017-05       Impact factor: 1.372

Review 8.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

Review 9.  Aicardi-Goutières syndrome and the type I interferonopathies.

Authors:  Yanick J Crow; Nicolas Manel
Journal:  Nat Rev Immunol       Date:  2015-06-05       Impact factor: 53.106

Review 10.  Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.

Authors:  R Behrendt; A Roers
Journal:  Clin Exp Immunol       Date:  2014-01       Impact factor: 4.330
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