Associated Papers
Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Li Y et al.
Clinical Immunology (orlando, Fla.), 2026
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
Pillalamarri V et al.
Hgg Advances, 2023
SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.
Maharana S et al.
Molecular Cell, 2022
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
Aicardi-Goutières syndrome-associated gene SAMHD1 preserves genome integrity by preventing R-loop formation at transcription-replication conflict regions.
Park K et al.
Plos Genetics, 2021
Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors.
Sürün D et al.
Genes, 2020
SAMHD1 acts at stalled replication forks to prevent interferon induction.
Coquel F et al.
Nature, 2018
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.
White TE et al.
Human Mutation, 2017
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor NM et al.
Mayo Clinic Proceedings, 2015
SAMHD1 prevents autoimmunity by maintaining genome stability.
Kretschmer S et al.
Annals of the Rheumatic Diseases, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Clifford R et al.
Blood, 2014
Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.
Behrendt R et al.
Cell Reports, 2013
Single-stranded nucleic acids promote SAMHD1 complex formation.
Tüngler V et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.
Hasan M et al.
Nature Immunology, 2013
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A et al.
Human Mutation, 2012
Aicardi-Goutieres syndrome: from patients to genes and beyond.
Chahwan C et al.
Clinical Genetics, 2012
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
Ramantani G et al.
Journal of Child Neurology, 2011
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI et al.
Nature Genetics, 2009