Lista de obras - Gillian I. Rice - Dominio Público Uruguay

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

artículo científico publicado en 2010

A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.

artículo científico publicado en 2011

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

artículo científico publicado en 2008

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

artículo científico publicado en 2015

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

artículo científico publicado en 2013

ACEH/ACE2 is a novel mammalian metallocarboxypeptidase and a homologue of angiotensin-converting enzyme insensitive to ACE inhibitors

artículo científico publicado en 2002

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

artículo científico publicado en 2014

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

artículo científico publicado en 2008

Aicardi-Goutières syndrome: description of a late onset case

artículo científico publicado en 2008

Angiotensin converting enzyme and angiotensin II type 1-receptor gene polymorphisms and risk of ischaemic heart disease.

artículo científico publicado en 1999

Angiotensin-converting enzyme (ACE) gene polymorphisms in patients characterised by coronary angiography

article

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

artículo científico publicado en 2013

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

artículo científico publicado en 2018

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

artículo científico publicado en 2008

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration

artículo científico publicado en 2014

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

artículo científico publicado en 2011

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

artículo científico publicado en 2008

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

artículo científico publicado en 2015

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

artículo científico publicado en 2015

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

artículo científico publicado en 2010

Circulating activities of angiotensin-converting enzyme, its homolog, angiotensin-converting enzyme 2, and neprilysin in a family study.

artículo científico publicado en 2006

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

artículo científico publicado en 2008

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

artículo científico publicado en 2013

Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism

artículo científico publicado en 2004

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

artículo científico publicado en 2010

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

artículo científico publicado en 2014

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

artículo científico publicado en 2020

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

artículo científico publicado en 2011

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Human disease phenotypes associated with mutations in TREX1.

artículo científico publicado en 2015

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2014

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

artículo científico publicado en 2011

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

artículo científico publicado en 2014

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

article

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

artículo científico publicado en 2014

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

artículo científico publicado en 2012

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

artículo científico publicado en 2014

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

artículo científico publicado en 2012

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

artículo científico publicado en 2016

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

artículo científico publicado en 2009

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

artículo científico publicado en 2015

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

artículo científico publicado en 2013

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations

artículo científico publicado en 2012

SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells

artículo científico publicado en 2012

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

scientific article published on 01 December 2019

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

artículo científico publicado en 2013

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy

artículo científico publicado en 2013

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

artículo científico publicado en 2011

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

artículo científico publicado en 2014

Therapies in Aicardi-Goutières syndrome.

artículo científico

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

artículo científico publicado en 2008

Type I interferon-mediated autoinflammation due to DNase II deficiency

artículo científico publicado en 2017

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

artículo científico publicado en 2020

Lista de obras de Gillian I. Rice

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

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.

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

ACEH/ACE2 is a novel mammalian metallocarboxypeptidase and a homologue of angiotensin-converting enzyme insensitive to ACE inhibitors

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Aicardi-Goutières syndrome: description of a late onset case

Angiotensin converting enzyme and angiotensin II type 1-receptor gene polymorphisms and risk of ischaemic heart disease.

Angiotensin-converting enzyme (ACE) gene polymorphisms in patients characterised by coronary angiography

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

Circulating activities of angiotensin-converting enzyme, its homolog, angiotensin-converting enzyme 2, and neprilysin in a family study.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

Human disease phenotypes associated with mutations in TREX1.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations

SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Therapies in Aicardi-Goutières syndrome.

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

Type I interferon-mediated autoinflammation due to DNase II deficiency

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing