Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever (Q34146734)

31 July 2017

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever (English)

1 reference

31 July 2017

C Cazeneuve

1

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31 July 2017

H Ajrapetyan

2

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31 July 2017

S Papin

3

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31 July 2017

F Roudot-Thoraval

4

1 reference

31 July 2017

D Geneviève

5

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31 July 2017

E Mndjoyan

6

1 reference

31 July 2017

M Papazian

7

1 reference

31 July 2017

A Sarkisian

8

1 reference

31 July 2017

A Babloyan

9

1 reference

31 July 2017

B Boissier

10

1 reference

31 July 2017

P Duquesnoy

11

1 reference

31 July 2017

J C Kouyoumdjian

12

1 reference

31 July 2017

E Girodon-Boulandet

13

1 reference

31 July 2017

G Grateau

14

1 reference

31 July 2017

T Sarkisian

15

1 reference

31 July 2017

S Amselem

16

1 reference

31 July 2017

language of work or name

English

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publication date

3 October 2000

1 reference

American Journal of Human Genetics

31 July 2017

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31 July 2017

67

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31 July 2017

1136-1143

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31 July 2017

5

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Receptor-dependent cell stress and amyloid accumulation in systemic amyloidosis

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

A cell culture system for the study of amyloid pathogenesis. Amyloid formation by peritoneal macrophages cultured with recombinant serum amyloid A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Criteria for the diagnosis of familial Mediterranean fever

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

A candidate gene for familial Mediterranean fever

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Differential plasma clearance of murine acute-phase serum amyloid A proteins SAA1 and SAA2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Acceleration of Alzheimer's fibril formation by apolipoprotein E in vitro

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Characterization of amyloid A protein in human secondary amyloidosis: the predominant deposition of serum amyloid A1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Apolipoprotein E carboxyl-terminal fragments are complexed to amyloids A and L. Implications for amyloidogenesis and Alzheimer's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Familial Mediterranean fever. A survey of 470 cases and review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Amyloidogenesis. One serum amyloid A isotype is selectively removed from the circulation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Apolipoprotein E: a pathological chaperone protein in patients with cerebral and systemic amyloid

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Familial Mediterranean fever--amyloidosis and the Val726Ala mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Phenotypic diversity, allelic series and modifier genes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288556

Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis

28 October 2018

1 reference

12 December 2020

Amyloids: Tombstones or triggers?

1 reference

12 December 2020

A novel allelic variant of serum amyloid A, SAA1 gamma: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA-amyloidosis

1 reference

12 December 2020

The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation

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

Pyrin/marenostrin mutations in familial Mediterranean fever

1 reference

12 December 2020

SAA1 alleles as risk factors in reactive systemic AA amyloidosis

1 reference

12 December 2020

Serum amyloid A1 alleles and plasma concentrations of serum amyloid A

1 reference

12 December 2020

Identifiers

DOI

10.1086/321196

1 reference

31 July 2017

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31 July 2017

1 reference