Associated Papers
Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Li Y et al.
Clinical Immunology (orlando, Fla.), 2026
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 2025
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
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F et al.
Journal of Inherited Metabolic Disease, 2024
Novel analysis of functional relationship linking moyamoya disease to moyamoya syndrome.
Cao L et al.
Heliyon, 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
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Liu A et al.
Scandinavian Journal of Immunology, 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
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.
Withers SE et al.
Frontiers in Immunology, 2023
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.
Jeong S et al.
Scientific Reports, 2020
Involvement of SAMHD1 in dNTP homeostasis and the maintenance of genomic integrity and oncotherapy (Review).
Zhang Z et al.
International Journal of Oncology, 2020
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
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy.
Meesilpavikkai K et al.
Arthritis & Rheumatology (hoboken, N.j.), 2019
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
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.
La Piana R et al.
Neurology, 2016
SAMHD1's protein expression profile in humans.
Schmidt S et al.
Journal of Leukocyte Biology, 2015
Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
Cuadrado E et al.
Journal of Immunology (baltimore, Md. : 1950), 2015
Human disease phenotypes associated with mutations in TREX1.
Rice GI et al.
Journal of Clinical Immunology, 2015
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.
Kasher PR et al.
Journal of Immunology (baltimore, Md. : 1950), 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 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.
Li W et al.
Biomed Research International, 2015
Structural basis of allosteric activation of sterile α motif and histidine-aspartate domain-containing protein 1 (SAMHD1) by nucleoside triphosphates.
Koharudin LM et al.
The Journal of Biological Chemistry, 2014
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
Lessel D et al.
American Journal of Medical Genetics. Part A, 2014
Therapies in Aicardi-Goutières syndrome.
Crow YJ et al.
Clinical and Experimental Immunology, 2014
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Belot A et al.
Pediatric Rheumatology Online Journal, 2014
Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.
Zhao K et al.
Cell Reports, 2013
A 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thrive.
Gurion R et al.
Arthritis Care & Research, 2013
Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.
Olivieri I et al.
Lupus, 2013
Structural insight into dGTP-dependent activation of tetrameric SAMHD1 deoxynucleoside triphosphate triphosphohydrolase.
Zhu C et al.
Nature Communications, 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
SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.
Berger A et al.
Plos Pathogens, 2011
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.
du Moulin M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Crow YJ et al.
Human Molecular Genetics, 2009