about
Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolismSAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutationsMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cellsClinical and molecular phenotype of Aicardi-Goutieres syndromeHIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolaseACEH/ACE2 is a novel mammalian metallocarboxypeptidase and a homologue of angiotensin-converting enzyme insensitive to ACE inhibitorsMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureBasal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.The SKIV2L RNA exosome limits activation of the RIG-I-like receptorsIdentification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencyMutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestationsAssessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndromeSynonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Therapies in Aicardi-Goutières syndrome.Human disease phenotypes associated with mutations in TREX1.Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.Aicardi-Goutières syndrome: description of a late onset case.Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.Type I interferon-mediated autoinflammation due to DNase II deficiency.Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.COL4A1 mutations associated with a characteristic pattern of intracranial calcification.A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
P50
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P50
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hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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type
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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Gillian I. Rice
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P1053
G-3128-2015
P106
P1153
35277372900
P21
P31
P3829
P496
0000-0002-4223-0571