Associated Papers
Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Li Y et al.
Clinical Immunology (orlando, Fla.), 2026
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
Krigstein M et al.
Annals of Laboratory Medicine, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A et al.
Pediatric Rheumatology Online Journal, 2024
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR et al.
American Journal of Medical Genetics. Part A, 2024
Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
Markovic I et al.
The Neuroradiology Journal, 2023
SAMHD1 in cancer: curse or cure?
Schott K et al.
Journal of Molecular Medicine (berlin, Germany), 2022
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
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 a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A et al.
Human Mutation, 2012
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
Goldstone DC et al.
Nature, 2011
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
Ramesh V et al.
Developmental Medicine and Child Neurology, 2010
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI et al.
Nature Genetics, 2009