List of works - Gillian I. Rice

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

scientific article published on 01 October 2010

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

scientific article published on 12 September 2011

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

scientific article published in July 2008

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

scientific article

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

scientific article published on 21 November 2013

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

scientific article (publication date: April 2002)

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

scientific article

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

scientific article published on 20 February 2008

Aicardi-Goutières syndrome: description of a late onset case

scientific article published on August 2008

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

scientific article published in March 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.

scientific article

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

scientific article published on 04 June 2018

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

scientific article published in December 2008

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

scientific article

COL4A1 mutations associated with a characteristic pattern of intracranial calcification

scientific article published in December 2011

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

scientific article published in January 2008

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

scientific article

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

scientific article published on 11 February 2015

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

scientific article published on 01 February 2010

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

scientific article published on 25 September 2006

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

scientific article published on 17 April 2008

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

scientific article published on 13 February 2013

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

scientific article

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

scientific article published on 01 April 2010

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

scientific article published on 30 March 2014

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

scientific article published on 14 January 2020

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

scientific article

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

scientific article published on 19 February 2007

Human disease phenotypes associated with mutations in TREX1.

scientific article

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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on 9 January 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 August 2016

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

scientific article

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

scientific article published on 2 April 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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on 13 May 2013

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

scientific article published on 7 May 2013

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

scientific article

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

scientific article

Therapies in Aicardi-Goutières syndrome.

scientific article published on January 2014

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

scientific article published on 01 November 2008

Type I interferon-mediated autoinflammation due to DNase II deficiency

scientific article published on 19 December 2017

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

scientific article published on 23 November 2020

List of works by 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