Human disease phenotypes associated with mutations in TREX1. (Q38366756)

From Wikidata

Revision as of 17:59, 11 July 2024 by Twofivesixbot (talk | contribs) (‎Updated Item: rm P2888 pointing to scigraph.springernature.com; site discontinued and merely duplicating DOI)

(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Human disease phenotypes associated with mutations in TREX1.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

1 reference

Europe PubMed Central

Human disease phenotypes associated with mutations in TREX1. (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

object named as

Mathieu P Rodero

2

0 references

Gillian I. Rice

object named as

Gillian I Rice

1

0 references

object named as

Yanick J Crow

3

0 references

language of work or name

1 reference

based on heuristic

inferred from title

publication date

4 March 2015

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

35

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

235-243

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Exonucleases and the incorporation of aranucleotides into DNA.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Familial systemic lupus erythematosus and congenital infection-like syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Epidemiology of systemic lupus erythematosus and cutaneous lupus erythematosus in a predominantly white population in the United States

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Chilblain lupus erythematosus--a review of literature.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Systemic involvement in TREX1-associated familial chilblain lupus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Early-onset stroke and vasculopathy associated with mutations in ADA2

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Activated STING in a vascular and pulmonary syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Deregulated type I IFN response in TREX1-associated familial chilblain lupus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Rare variants in the TREX1 gene and susceptibility to autoimmune diseases

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Interferon and granulopoiesis signatures in systemic lupus erythematosus blood

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Aicardi-Goutières syndrome: a genetic microangiopathy?

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Structural and functional neuropathology in transgenic mice with CNS expression of IFN-alpha

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Systemic lupus erythematosus.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Trex1 prevents cell-intrinsic initiation of autoimmunity

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Endogenous retroelements and autoimmune disease

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

The enemy within: endogenous retroelements and autoimmune disease

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0147-3

21 January 2018

Host DNase TREX1 hides HIV from DNA sensors

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Properties of Deoxyribonuclease III from Mammalian Tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25731743

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10875-015-0147-3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38366756&oldid=2201617758"