Associated Papers
Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Li Y et al.
Clinical Immunology (orlando, Fla.), 2026
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS et al.
Nature Genetics, 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
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
Role of Intracellular Distribution of Feline and Bovine SAMHD1 Proteins in Lentiviral Restriction.
Wang C et al.
Virologica Sinica, 2021
Structural and functional characterization explains loss of dNTPase activity of the cancer-specific R366C/H mutant SAMHD1 proteins.
Bowen NE et al.
The Journal of Biological Chemistry, 2021
Dual roles of SAMHD1 in tumor development and chemoresistance to anticancer drugs.
Chen Z et al.
Oncology Letters, 2021
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.
Haskell GT et al.
Cold Spring Harbor Molecular Case Studies, 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
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
Yarbrough K et al.
American Journal of Medical Genetics. Part A, 2016
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
[Genetics of lupus erythematosus].
Günther C
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2015
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Clifford R et al.
Blood, 2014
The Vpx lentiviral accessory protein targets SAMHD1 for degradation in the nucleus.
Hofmann H et al.
Journal of Virology, 2012
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A et al.
Human Mutation, 2012
Role of SAMHD1 nuclear localization in restriction of HIV-1 and SIVmac.
Brandariz-Nuñez A et al.
Retrovirology, 2012
Aicardi-Goutieres syndrome: from patients to genes and beyond.
Chahwan C et al.
Clinical Genetics, 2012
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
Ravenscroft JC et al.
American Journal of Medical Genetics. Part A, 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