(Q36603948)

15 August 2017

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

1 reference

familial Mediterranean fever

15 August 2017

1 reference

7

E F Remmers

1 reference

15 August 2017

J G Ryan

1

1 reference

15 August 2017

S L Masters

2

1 reference

15 August 2017

M G Booty

3

1 reference

15 August 2017

N Habal

4

1 reference

15 August 2017

J D Alexander

5

1 reference

15 August 2017

B K Barham

6

1 reference

15 August 2017

K S Barron

8

1 reference

15 August 2017

D L Kastner

9

1 reference

15 August 2017

I Aksentijevich

10

1 reference

15 August 2017

language of work or name

English

0 references

publication date

23 November 2009

1 reference

Annals of the Rheumatic Diseases

15 August 2017

1 reference

15 August 2017

69

1 reference

15 August 2017

7

1 reference

15 August 2017

1383-1388

1 reference

Common and rare variants in multifactorial susceptibility to common diseases

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

The New York Cancer Project: rationale, organization, design, and baseline characteristics

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Nodular cutaneous amyloid tumors of the eyelids in the absence of systemic amyloidosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

The spectrum of Familial Mediterranean Fever (FMF) mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

FUGUE: sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

A candidate gene for familial Mediterranean fever

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

A new set of criteria for the diagnosis of familial Mediterranean fever in childhood

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Familial Mediterranean fever and E148Q pyrin gene mutation in Greece

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

The genetic basis of autosomal dominant familial Mediterranean fever

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Criteria for the diagnosis of familial Mediterranean fever

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Infliximab therapy in a patient with familial Mediterranean fever and chronic hip arthritis

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570240

Primary localized amyloidosis presenting as an eyelid margin tumor

20 September 2018

1 reference

12 December 2020

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

1 reference

12 December 2020

Primary localised nodular amyloidosis of the eyelid and conjunctiva: a case report

1 reference

12 December 2020

Lessons from a genomewide association study of rheumatoid arthritis

1 reference

12 December 2020

Identifiers

DOI

10.1136/ARD.2009.113415

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

19934105

1 reference