Associated Papers
Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.
Khouja M et al.
Leukemia, 2026
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
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
LASSO-derived nomogram for early identification of pediatric monogenic lupus.
Zhang TY et al.
World Journal of Pediatrics : Wjp, 2024
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus.
Raupov RK et al.
Biomedicines, 2024
SAMHD1 in cancer: curse or cure?
Schott K et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Tise CG et al.
American Journal of Medical Genetics. Part A, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M et al.
Frontiers in Pediatrics, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
The SAM domain of mouse SAMHD1 is critical for its activation and regulation.
Buzovetsky O et al.
Nature Communications, 2018
The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.
Landau DA et al.
Nature Communications, 2017
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
Mechanism of allosteric activation of SAMHD1 by dGTP.
Ji X et al.
Nature Structural & Molecular Biology, 2013
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.
Beloglazova N et al.
The Journal of Biological Chemistry, 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
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
Goldstone DC et al.
Nature, 2011
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI et al.
Nature Genetics, 2009