Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1
出版年份 2015 全文链接
标题
Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 2, Pages 296-312
出版商
Wiley
发表日期
2015-01-16
DOI
10.1002/ajmg.a.36887
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Type I interferonopathies: Mendelian type I interferon up-regulation
- (2015) Yanick J Crow CURRENT OPINION IN IMMUNOLOGY
- Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
- (2014) Gillian I Rice et al. NATURE GENETICS
- Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia
- (2014) Maha Zaki et al. NEUROPEDIATRICS
- Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C
- (2013) Julie Vogt et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage
- (2013) R. Clifford et al. BLOOD
- Therapies in Aicardi-Goutières syndrome
- (2013) Y. J. Crow et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Synonymous Mutations inRNASEH2ACreate Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutières Syndrome
- (2013) Gillian I. Rice et al. HUMAN MUTATION
- A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1
- (2013) John H Livingston et al. JOURNAL OF MEDICAL GENETICS
- Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
- (2013) Gillian I Rice et al. LANCET NEUROLOGY
- Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient
- (2013) I Olivieri et al. LUPUS
- A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
- (2013) J. Abe et al. RHEUMATOLOGY
- Rare Variants in theTREX1Gene and Susceptibility to Autoimmune Diseases
- (2013) Nadia Barizzone et al. Biomed Research International
- Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development
- (2012) Martin A.M. Reijns et al. CELL
- Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
- (2012) Gillian I Rice et al. NATURE GENETICS
- Type I interferonopathies: a novel set of inborn errors of immunity
- (2011) Yanick J. Crow Annals of the New York Academy of Sciences
- Developing and validating the Communication Function Classification System for individuals with cerebral palsy
- (2011) MARY JO COOLEY HIDECKER et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort
- (2011) B Namjou et al. GENES AND IMMUNITY
- Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
- (2011) B. Xin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures
- (2010) Russell C. Dale et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Development and reliability of a system to classify gross motor function in children with cerebral palsy
- (2010) Robert Palisano et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis
- (2010) VENKATESWARAN RAMESH et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
- (2010) Holger Thiele et al. HUMAN MUTATION
- Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation
- (2009) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
- (2009) Y. J. Crow et al. HUMAN MOLECULAR GENETICS
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- (2009) Gillian I Rice et al. NATURE GENETICS
- Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support
- (2008) Paul A. Harris et al. JOURNAL OF BIOMEDICAL INFORMATICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search