(Q30447248)

16 August 2017

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease (English)

1 reference

familial Mediterranean fever

16 August 2017

0 references

0 references

1 reference

Michael J Ombrello

16

0 references

Yohei Kirino

Yohei Kirino

1

0 references

Duran Ustek

Duran Ustek

11

0 references

Elaine F. Remmers

Elaine F Remmers

26

0 references

Alexander F Wilson

23

Alexander F Wilson

1 reference

16 August 2017

19

James C Mullikin

1 reference

16 August 2017

24

Daniel L Kastner

1 reference

16 August 2017

Qing Zhou

2

1 reference

16 August 2017

Yoshiaki Ishigatsubo

3

1 reference

16 August 2017

Nobuhisa Mizuki

4

1 reference

16 August 2017

Ilknur Tugal-Tutkun

5

1 reference

16 August 2017

Emire Seyahi

6

1 reference

16 August 2017

Yilmaz Özyazgan

7

1 reference

16 August 2017

Serdal Ugurlu

8

1 reference

16 August 2017

Burak Erer

9

1 reference

16 August 2017

Neslihan Abaci

10

1 reference

16 August 2017

Akira Meguro

12

1 reference

16 August 2017

Atsuhisa Ueda

13

1 reference

16 August 2017

Mitsuhiro Takeno

14

1 reference

16 August 2017

Hidetoshi Inoko

15

1 reference

16 August 2017

Colleen L Satorius

17

1 reference

16 August 2017

Baishali Maskeri

18

1 reference

16 August 2017

Hong-Wei Sun

20

1 reference

16 August 2017

Gustavo Gutierrez-Cruz

21

1 reference

16 August 2017

Yoonhee Kim

22

1 reference

16 August 2017

Ahmet Gül

25

1 reference

16 August 2017

language of work or name

English

0 references

publication date

30 April 2013

1 reference

Proceedings of the National Academy of Sciences of the United States of America

16 August 2017

1 reference

16 August 2017

110

1 reference

16 August 2017

20

1 reference

16 August 2017

8134-8139

1 reference

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Association of the MEFV gene variations with inflammatory bowel disease in Turkey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Mapping rare and common causal alleles for complex human diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

The functional spectrum of low-frequency coding variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Testing for an unusual distribution of rare variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Comprehensive approach to analyzing rare genetic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

A data-adaptive sum test for disease association with multiple common or rare variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcerative colitis: a meta-analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

SIFT: Predicting amino acid changes that affect protein function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

MEFV mutations in Behçet's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Defective LPS Signaling in C3H/HeJ and C57BL/10ScCr Mice: Mutations in Tlr4 Gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Criteria for the diagnosis of familial Mediterranean fever

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Combining probability from independent tests: the weighted Z-method is superior to Fisher's approach

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1306352110

Common Crohn's disease-predisposing variants of the CARD15/NOD2 gene are not associated with Behçet's disease in Turkey.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657824

Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23633568

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CARD15 polymorphisms in Behçet's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23633568

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Low prevalence of NOD2 SNPs in Behçet's disease suggests protective association in Caucasians

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23633568

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1306352110

1 reference

16 August 2017

0 references

1 reference

16 August 2017

1 reference