Associated Papers
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.
Abdel-Salam GMH et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.
Buerki SE et al.
Seizure, 2023
SAMHD1 restricts the deoxyguanosine triphosphate pool contributing to telomere stability in telomerase-positive cells.
D'Aronco G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
SAMHD1 in cancer: curse or cure?
Schott K et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Dual roles of SAMHD1 in tumor development and chemoresistance to anticancer drugs.
Chen Z et al.
Oncology Letters, 2021
SAMHD1-deficient fibroblasts from Aicardi-Goutières Syndrome patients can escape senescence and accumulate mutations.
Franzolin E et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Clifford R et al.
Blood, 2014
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A et al.
Human Mutation, 2012
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
Thiele H et al.
Human Mutation, 2010
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
Dale RC et al.
American Journal of Medical Genetics. Part A, 2010
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI et al.
Nature Genetics, 2009