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

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

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

http://www.wikidata.org/entity/Q35754152

about

Type I interferonopathies in pediatric rheumatology Therapeutic advances in the treatment of vasculitis New Insights into the Function of the Immunoproteasome in Immune and Nonimmune Cells Update in juvenile myositis Beyond the NLRP3 inflammasome: autoinflammatory diseases reach adolescence New described dermatological disorders Immunoproteasomes: structure, function, and antigen presentation Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.The expanding spectrum of rare monogenic autoinflammatory diseases.Upregulation of immunoproteasome subunits in myositis indicates active inflammation with involvement of antigen presenting cells, CD8 T-cells and IFNΓ Activated STING in a vascular and pulmonary syndrome When less is more: primary immunodeficiency with an autoinflammatory kick An inherited mutation in NLRC4 causes autoinflammation in human and mice.Aicardi-Goutières syndrome and the type I interferonopathies.CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.CANDLE Syndrome: orodfacial manifestations and dental implications.Corneal wound healing is compromised by immunoproteasome deficiency.A novel model for IFN-γ-mediated autoinflammatory syndromes.Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib New monogenic autoinflammatory diseases--a clinical overview Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Immunoproteasome subunit LMP7 Deficiency Improves Obesity and Metabolic Disorders Defects in retinal pigment epithelial cell proteolysis and the pathology associated with age-related macular degeneration.A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.Novel forms of lipodystrophy: why should we care?The juvenile idiopathic inflammatory myopathies: pathogenesis, clinical and autoantibody phenotypes, and outcomes The Immunoproteasome in oxidative stress, aging, and disease.Monogenic autoinflammatory diseases: concept and clinical manifestations.TNF Receptor 2 and Disease: Autoimmunity and Regenerative Medicine.Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.Genetics of proteasome diseases.Rheumatoid arthritis in the Women's Health Initiative: methods and baseline evaluation.Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.Neutrophils come of age in chronic inflammation.Unexplained recurrent fever: when is autoinflammation the explanation?

P2860

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P2860

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

http://www.wikidata.org/entity/Q35754152

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

Mutations in proteasome subuni ...... and phenotypic heterogeneity.

@ast

Mutations in proteasome subuni ...... and phenotypic heterogeneity.

@en

type

label

Mutations in proteasome subuni ...... and phenotypic heterogeneity.

@ast

Mutations in proteasome subuni ...... and phenotypic heterogeneity.

@en

prefLabel

Mutations in proteasome subuni ...... and phenotypic heterogeneity.

@ast

Mutations in proteasome subuni ...... and phenotypic heterogeneity.

@en

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P1433

Arthritis and Rheumatism

P1476

Mutations in proteasome subuni ...... c and phenotypic heterogeneity

@en

P2093

Abraham Zlotogorski

http://www.w3.org/2001/XMLSchema#string

Afzal Sheikh

http://www.w3.org/2001/XMLSchema#string

Angel Vera

http://www.w3.org/2001/XMLSchema#string

Antonio Torrelo

http://www.w3.org/2001/XMLSchema#string

Nuo Si

http://www.w3.org/2001/XMLSchema#string

Peter W Kim

http://www.w3.org/2001/XMLSchema#string

Raphaela Goldbach-Mansky

http://www.w3.org/2001/XMLSchema#string

Sofia Babay

http://www.w3.org/2001/XMLSchema#string

Xue Zhang

http://www.w3.org/2001/XMLSchema#string

Yin Liu

http://www.w3.org/2001/XMLSchema#string

P2860

A proposed classification of the immunological diseases

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

The structure of the mammalian 20S proteasome at 2.75 A resolution

Interferon-gamma coordinates CCL3-mediated neutrophil recruitment in vivo.

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

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

A syndrome with nodular erythema, elongated and thickened fingers, and emaciation.

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

Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.

P304

895-907

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scholarly article

P356

10.1002/ART.33368

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P433

3

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P478

64

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Chyi-Chia R Lee

P577

2012-03-01T00:00:00Z

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P5875

51667976

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21953331

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3278554

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