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AICARDI-GOUTIERES SYNDROME 1

Known as: Aicardi Goutieres syndrome, AGS1, Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 
 
National Institutes of Health

Related topics

Related topics

12 relations
Aicardi-Goutieres Syndrome 2Autosomal dominant inheritanceAutosomal recessive inheritanceChilblains
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Broader (2)

Autoimmune Diseases of the Nervous SystemCongenital neurologic anomalies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
American Geriatrics Society 2019 Updated AGS Beers Criteria® for Potentially Inappropriate Medication Use in Older Adults
The American Geriatrics Society (AGS) Beers Criteria® (AGS Beers Criteria®) for Potentially Inappropriate Medication (PIM) Use in… Expand
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Highly Cited
2011
Highly Cited
2011
SAMHD1-Deficient CD14+ Cells from Individuals with Aicardi-Goutières Syndrome Are Highly Susceptible to HIV-1 Infection
Myeloid blood cells are largely resistant to infection with human immunodeficiency virus type 1 (HIV-1). Recently, it was… Expand
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Highly Cited
2011
Highly Cited
2011
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
SAMHD1, an analogue of the murine interferon (IFN)-γ-induced gene Mg11 (ref. 1), has recently been identified as a human… Expand
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Highly Cited
2009
Highly Cited
2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus… Expand
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Review
2009
Review
2009
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the… Expand
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Highly Cited
2007
Highly Cited
2007
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
TREX1 constitutes the major 3'-->5' DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1… Expand
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Highly Cited
2007
Highly Cited
2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral… Expand
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Highly Cited
2006
Highly Cited
2006
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of… Expand
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Highly Cited
2006
Highly Cited
2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart… Expand
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