(Q37897478)

25 August 2017

1 reference

title

Genetics of monogenic autoinflammatory diseases: past successes, future challenges (English)

1 reference

25 August 2017

1

Ivona Aksentijevich

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25 August 2017

2

Daniel L Kastner

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25 August 2017

language of work or name

English

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publication date

5 July 2011

1 reference

Nature Reviews Rheumatology

25 August 2017

published in

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25 August 2017

volume

7

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25 August 2017

issue

8

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25 August 2017

page(s)

469-478

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https://scigraph.springernature.com/pub.10.1038/nrrheum.2011.94

25 August 2017

exact match

0 references

cites work

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Charting a course for genomic medicine from base pairs to bedside

21 January 2018

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Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

21 January 2018

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De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Is E148Q a benign polymorphism or a disease-causing mutation?

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Disease-associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

A map of human genome variation from population-scale sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2011.94

The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21727933

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRRHEUM.2011.94

1 reference

25 August 2017

1 reference