Human Disease Phenotypes Associated With Mutations in TREX1

Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

(2015) Yanick J. Crow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epidemiology of Systemic Lupus Erythematosus and Cutaneous Lupus Erythematosus in a Predominantly White Population in the United States

(2015) Sudumpai Jarukitsopa et al.   ARTHRITIS CARE & RESEARCH

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

(2014) Eloy Cuadrado et al.   ANNALS OF THE RHEUMATIC DISEASES

The Arg-62 Residues of the TREX1 Exonuclease Act Across the Dimer Interface Contributing to Catalysis in the Opposing Protomers

(2014) Jason M. Fye et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TREX1 Deficiency Triggers Cell-Autonomous Immunity in a cGAS-Dependent Manner

(2014) A. Ablasser et al.   JOURNAL OF IMMUNOLOGY

The enemy within: endogenous retroelements and autoimmune disease

(2014) Hannah E Volkman et al.   NATURE IMMUNOLOGY

STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy

(2014) Yanick J. Crow et al.   NEW ENGLAND JOURNAL OF MEDICINE

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

(2014) Paulina Navon Elkan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Safeguard against DNA sensing: the role of TREX1 in HIV-1 infection and autoimmune diseases

(2014) Maroof Hasan et al.   Frontiers in Microbiology

Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi–Goutières syndrome

(2013) Eloy Cuadrado et al.   BRAIN

Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus

(2013) Katrin Peschke et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus

(2013) Kazuo Yamashiro et al.   JOURNAL OF NEUROLOGY

Systemic involvement in TREX1-associated familial chilblain lupus

(2013) Claudia Günther et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient

(2013) I Olivieri et al.   LUPUS

A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

(2013) J. Abe et al.   RHEUMATOLOGY

Rare Variants in theTREX1Gene and Susceptibility to Autoimmune Diseases

(2013) Nadia Barizzone et al.   Biomed Research International

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome

(2012) V. Tüngler et al.   BRITISH JOURNAL OF DERMATOLOGY

Endogenous retroelements and autoimmune disease

(2012) Daniel B Stetson   CURRENT OPINION IN IMMUNOLOGY

Autoimmunity Initiates in Nonhematopoietic Cells and Progresses via Lymphocytes in an Interferon-Dependent Autoimmune Disease

(2012) Alevtina Gall et al.   IMMUNITY

Severe Chilblain Lupus Is Associated with Heterozygous Missense Mutations of Catalytic Amino Acids or their Adjacent Mutations in the Exonuclease Domains of 3′-Repair Exonuclease 1

(2012) Kazumitsu Sugiura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes

(2012) Maroof Hasan et al.   NATURE IMMUNOLOGY

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

(2012) J. Abe et al.   RHEUMATOLOGY

Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease

(2011) Suzanna L. Bailey et al.   DNA REPAIR

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

(2011) B Namjou et al.   GENES AND IMMUNITY

Dominant Mutations of the TREX1 Exonuclease Gene in Lupus and Aicardi-Goutières Syndrome

(2011) Jason M. Fye et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The TREX1 Exonuclease R114H Mutation in Aicardi-Goutières Syndrome and Lupus Reveals Dimeric Structure Requirements for DNA Degradation Activity

(2011) Clinton D. Orebaugh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Systemic Lupus Erythematosus

(2011) George C. Tsokos   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) Charlotte A. Haaxma et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Jane C. Ravenscroft et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

New roles for the major human 3′-5′ exonuclease TREX1 in human disease

(2010) David Kavanagh et al.   CELL CYCLE

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

(2010) VENKATESWARAN RAMESH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Novel Ophthalmic Pathology in an Autopsy Case of Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

(2010) Aaron M Gruver et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Host DNase TREX1 hides HIV from DNA sensors

(2010) Teunis B H Geijtenbeek   NATURE IMMUNOLOGY

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1

(2010) Nan Yan et al.   NATURE IMMUNOLOGY

EVOLUTION OF A TUMOR-LIKE LESION IN CEREBRORETINAL VASCULOPATHY AND TREX1 MUTATION

(2010) F. J. Mateen et al.   NEUROLOGY

Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1

(2009) C. Günther et al.   DERMATOLOGY

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

Chilblain lupus erythematosus—a review of literature

(2008) C. M. Hedrich et al.   CLINICAL RHEUMATOLOGY

The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection

(2008) H. Jepps et al.   EARLY HUMAN DEVELOPMENT

Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in aicardi-Goutières syndrome

(2008) Jane T. Van Heteren et al.   GLIA

The TREX1 Double-stranded DNA Degradation Activity Is Defective in Dominant Mutations Associated with Autoimmune Disease

(2008) Duane A. Lehtinen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY