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Three Prime Repair Exonuclease 1 (TREX1) expression correlates with cervical cancer cells growth in vitro and disease progression in vivo
(Nature, 2019)
Alterations in specific DNA damage repair mechanisms in the presence of human papillomavirus (HPV) infection have been described in different experimental models. However, the global effect of HPV on the expression of genes ...
Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ ...
Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ ...
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disorder with a complex pathogenesis in which genetic, hormonal and environmental factors have a role. Rare mutations in the TREX1 gene, the major mammalian ...
Familial chilblain lupus due to a gain-of-function mutation in STING
(B M J Publishing Group, 2017-02)
Objectives Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to ...
Expression of Fluorescent Genes in Trypanosoma cruzi and Trypanosoma rangeli (Kinetoplastida: Trypanosomatidae): Its Application to Parasite-Vector Biology
(Oxford University Press, 2005-01)
Two Trypanosoma cruzi-derived cloning vectors, pTREX-n and pBs:CalB1/CUB01, were used to drive the expression of green fluorescent protein (GFP) and DsRed in Trypanosoma rangeli Tejera, 1920, and Trypanosoma cruzi Chagas, ...
Búsqueda de potenciales blancos para el diseño de drogas anti-parasitarias en dominios de interacción proteína-proteína y proteína-ARN en Trypanosoma cruziSearch for potential targets for anti-parasitic drug design in protein-protein and protein-RNA interaction domains in Trypanosoma cruzi
(Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires, 2011)
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
(NATURE PUBLISHING GROUP, 2009)
Aicardi-Goutieres syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and ...