Condition: AICARDI-GOUTIERES SYNDROME 5 (disorder)
rs121434516 in
SAMHD1 gene and
AICARDI-GOUTIERES SYNDROME 5 (disorder)
PMID 24035396 2013 Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.
PMID 29670289 2018 SAMHD1 acts at stalled replication forks to prevent interferon induction.
PMID 28229507 2017 A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.
PMID 20842748 2010 Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
PMID 19525956 2009 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
PMID 20358604 2010 Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
PMID 20653736 2010 Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
PMID 22973040 2012 The Vpx lentiviral accessory protein targets SAMHD1 for degradation in the nucleus.
PMID 22461318 2012 SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
PMID 21204240 2011 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
PMID 27604406 2016 The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
PMID 22174685 2011 SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.