Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus. (Q38966512)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27678529%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

review article

1 reference

title

Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27678529%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1 reference

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24 March 2020

author name string

Gina A Montealegre Sanchez

series ordinal

1 reference

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24 March 2020

Raphaela Goldbach-Mansky

series ordinal

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24 March 2020

publication date

27 September 2016

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27678529%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular Medicine

24 March 2020

published in

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24 March 2020

volume

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24 March 2020

issue

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24 March 2020

page(s)

1111-1127

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Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

24 March 2020

cites work

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Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases

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Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response

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17 June 2018

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17 June 2018

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CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation

17 June 2018

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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

17 June 2018

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Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

17 June 2018

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RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself

17 June 2018

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Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis

17 June 2018

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Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases

17 June 2018

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Human disease phenotypes associated with mutations in TREX1.

17 June 2018

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Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling

17 June 2018

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

17 June 2018

1 reference

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Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

17 June 2018

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Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

17 June 2018

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The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

17 June 2018

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

17 June 2018

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The role of dead cell clearance in the etiology and pathogenesis of systemic lupus erythematosus: dendritic cells as potential targets

17 June 2018

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Activated STING in a vascular and pulmonary syndrome

17 June 2018

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Aicardi-Goutières syndrome is caused by IFIH1 mutations.

17 June 2018

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

17 June 2018

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SAMHD1 prevents autoimmunity by maintaining genome stability

17 June 2018

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IL-1 blockade in autoinflammatory syndromes

17 June 2018

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17 June 2018

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

17 June 2018

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A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.

17 June 2018

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17 June 2018

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A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.

17 June 2018

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Proteins derived from neutrophil extracellular traps may serve as self-antigens and mediate organ damage in autoimmune diseases

17 June 2018

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STING and the innate immune response to nucleic acids in the cytosol

17 June 2018

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

17 June 2018

1 reference

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Apoptosis and NET formation in the pathogenesis of SLE.

17 June 2018

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Complement in the immunopathogenesis of rheumatic disease

17 June 2018

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Role of type I interferons in the activation of autoreactive B cells

17 June 2018

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17 June 2018

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

17 June 2018

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17 June 2018

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

17 June 2018

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17 June 2018

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17 June 2018

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A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

17 June 2018

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Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

17 June 2018

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

17 June 2018

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PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

17 June 2018

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C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes

17 June 2018

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Type I interferon: friend or foe?

17 June 2018

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Complement: a key system for immune surveillance and homeostasis

17 June 2018

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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report

17 June 2018

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Nuclease deficiencies promote end-stage lupus nephritis but not nephritogenic autoimmunity in (NZB × NZW) F1 mice

17 June 2018

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An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

17 June 2018

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Type I interferon system activation and association with disease manifestations in systemic sclerosis

17 June 2018

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Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis

17 June 2018

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Autoinflammatory disease reloaded: a clinical perspective

17 June 2018

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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

17 June 2018

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

17 June 2018

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Mouse dendritic cells matured by ingestion of apoptotic blebs induce T cells to produce interleukin-17.

17 June 2018

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Endosomal TLR signaling is required for anti-nucleic acid and rheumatoid factor autoantibodies in lupus

17 June 2018

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

17 June 2018

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Aicardi-Goutieres syndrome.

17 June 2018

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Induction of inflammatory and immune responses by HMGB1-nucleosome complexes: implications for the pathogenesis of SLE

17 June 2018

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Trex1 prevents cell-intrinsic initiation of autoimmunity

17 June 2018

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

17 June 2018

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

17 June 2018

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An interferon signature in the peripheral blood of dermatomyositis patients is associated with disease activity

17 June 2018

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

17 June 2018

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

17 June 2018

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

17 June 2018

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

17 June 2018

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The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death

17 June 2018

1 reference

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Mechanisms of immune-deposit formation and the mediation of immune renal injury

17 June 2018

1 reference

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Suppression of haematopoiesis during therapy of chronic hepatitis C with different interferon alpha mono and combination therapy regimens

17 June 2018

1 reference

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Involvement of C4 allotypes in the pathogenesis of human diseases

17 June 2018

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17 June 2018

The Chk2 protein kinase

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Interferon and granulopoiesis signatures in systemic lupus erythematosus blood

17 June 2018

1 reference

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Release of chromatin protein HMGB1 by necrotic cells triggers inflammation

17 June 2018

1 reference

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Chromatin-IgG complexes activate B cells by dual engagement of IgM and Toll-like receptors

17 June 2018

1 reference

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Mutation of DNASE1 in people with systemic lupus erythematosus

17 June 2018

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Familial systemic lupus erythematosus and congenital infection-like syndrome

17 June 2018

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Features of systemic lupus erythematosus in Dnase1-deficient mice

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Pleuropulmonary manifestations of systemic lupus erythematosus

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

C1q knock-out mice for the study of complement deficiency in autoimmune disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Autoantigens targeted in systemic lupus erythematosus are clustered in two populations of surface structures on apoptotic keratinocytes

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Familial chilblain lupus due to a gain-of-function mutation in STING.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Host restriction factor SAMHD1 limits human T cell leukemia virus type 1 infection of monocytes via STING-mediated apoptosis

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Type I interferon and Toll-like receptor expression characterizes inflammatory myopathies.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Remnants of secondarily necrotic cells fuel inflammation in systemic lupus erythematosus

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Induction of genes mediating interferon-dependent extracellular trap formation during neutrophil differentiation

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Cooperation between C1q and DNase I in the clearance of necrotic cell-derived chromatin

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5094849

Type I interferonopathies: a novel set of inborn errors of immunity

21 August 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-016-1465-5

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-016-1465-5

Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-016-1465-5

Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-016-1465-5

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.

21 January 2018

1 reference

12 December 2020

Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis

1 reference

12 December 2020

Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome

1 reference

12 December 2020

Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway

1 reference

12 December 2020

Stimulator of interferon genes-associated vasculitis of infancy

1 reference

12 December 2020

Immune complexes and other laboratory features of pleural effusions: a comparison of rheumatoid arthritis, systemic lupus erythematosus, and other diseases

1 reference

12 December 2020

Both early and late apoptotic blebs are taken up by DC and induce IL-6 production

1 reference

12 December 2020

10.1007/S00109-016-1465-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27678529%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27678529%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

PubMed publication ID

27678529

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27678529%20AND%20SRC:MED&resulttype=core&format=json