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About 90 results

ALLMedicine™ Aicardi-Goutieres Syndrome Center

Research & Reviews  45 results

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Go...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420445
Orphanet Journal of Rare Diseases; Kameli R, Amanat M et. al.

Jul 27th, 2019 - Restricted factor analysis (RFA) is a powerful method to test for uniform differential item functioning (DIF), but it may require empirically selecting anchor items to prevent inflated Type I error rates. We conducted a simulation study to compare...

cGAS activation causes lupus-like autoimmune disorders in a TREX1 mutant mouse model.
https://doi.org/10.1016/j.jaut.2019.03.001
Journal of Autoimmunity; Xiao N, Wei J et. al.

Mar 15th, 2019 - TREX1 encodes a major cellular DNA exonuclease. Mutations of this gene in human cause cellular accumulation of DNA that triggers autoimmune diseases including Aicardi-Goutieres Syndrome (AGS) and systemic lupus erythematosus (SLE). We created a lu...

Intracranial Calcifications in Young Children.
https://doi.org/10.1016/j.spen.2017.03.022
Seminars in Pediatric Neurology; Dugan SL, Botto LD et. al.

Jul 2nd, 2018 - Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifi...

SAMHD1: Recurring roles in cell cycle, viral restriction, cancer, and innate immunity.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117824
Autoimmunity Mauney CH, Hollis T

Mar 27th, 2018 - Sterile alpha motif and histidine-aspartic acid domain-containing protein 1 (SAMHD1) is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of ...

Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Devel...
https://doi.org/10.1080/15513815.2017.1388456
Fetal and Pediatric Pathology; Sun Y, Hu X et. al.

Jan 17th, 2018 - RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, includ...

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Clinicaltrials.gov  45 results

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Go...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420445
Orphanet Journal of Rare Diseases; Kameli R, Amanat M et. al.

Jul 27th, 2019 - Restricted factor analysis (RFA) is a powerful method to test for uniform differential item functioning (DIF), but it may require empirically selecting anchor items to prevent inflated Type I error rates. We conducted a simulation study to compare...

cGAS activation causes lupus-like autoimmune disorders in a TREX1 mutant mouse model.
https://doi.org/10.1016/j.jaut.2019.03.001
Journal of Autoimmunity; Xiao N, Wei J et. al.

Mar 15th, 2019 - TREX1 encodes a major cellular DNA exonuclease. Mutations of this gene in human cause cellular accumulation of DNA that triggers autoimmune diseases including Aicardi-Goutieres Syndrome (AGS) and systemic lupus erythematosus (SLE). We created a lu...

Intracranial Calcifications in Young Children.
https://doi.org/10.1016/j.spen.2017.03.022
Seminars in Pediatric Neurology; Dugan SL, Botto LD et. al.

Jul 2nd, 2018 - Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifi...

SAMHD1: Recurring roles in cell cycle, viral restriction, cancer, and innate immunity.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117824
Autoimmunity Mauney CH, Hollis T

Mar 27th, 2018 - Sterile alpha motif and histidine-aspartic acid domain-containing protein 1 (SAMHD1) is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of ...

Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Devel...
https://doi.org/10.1080/15513815.2017.1388456
Fetal and Pediatric Pathology; Sun Y, Hu X et. al.

Jan 17th, 2018 - RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, includ...

see more →