(Q24613164)

English

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

scientific article

In more languages

Statements

scholarly article

0 references

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes (English)

0 references

1 reference

based on heuristic

inferred from title

Muckle-Wells syndrome

1 reference

based on heuristic

inferred from title

familial cold urticaria

1 reference

based on heuristic

inferred from title

Jean-Marie Berthelot

5

object named as

Jean-Marie Berthelot

0 references

14

object named as

Patrick Edery

0 references

author name string

Catherine Dodé

1

0 references

Nathalie Le Dû

2

0 references

Laurence Cuisset

3

0 references

Frank Letourneur

4

0 references

Gérard Vaudour

6

0 references

Alain Meyrier

7

0 references

Richard A Watts

8

0 references

David G I Scott

9

0 references

Anne Nicholls

10

0 references

Brigitte Granel

11

0 references

Camille Frances

12

0 references

François Garcier

13

0 references

Serge Boulinguez

15

0 references

Jean-Paul Domergues

16

0 references

Marc Delpech

17

0 references

Gilles Grateau

18

0 references

language of work or name

0 references

publication date

June 2002

0 references

American Journal of Human Genetics

0 references

70

0 references

1498-506

0 references

6

0 references

PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

Identification of a locus on chromosome 1q44 for familial cold urticaria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

The NACHT family - a new group of predicted NTPases implicated in apoptosis and MHC transcription activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

7 April 2017

Hereditary periodic fever

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

Genetically determined recurrent fevers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

CARD15 mutations in Blau syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

An autosomal dominant periodic fever associated with AA amyloidosis in a north Indian family maps to distal chromosome 1q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

Hypergammaglobulinemia D and familial urticaria in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

The 'Muckle–Wells' syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

27 September 2017

Mückle-Wells syndrome. 5th familial case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

30 May 2018

A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379138

28 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyrin N-terminal homology domain- and caspase recruitment domain-dependent oligomerization of ASC

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intermittent rheumatism revealing a familial syndrome. Arthritis--urticarian eruptions--deafness: Muckle-Wells syndrome without kidney amylosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muckle-Wells syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Muckle-Wells syndrome and the major histocompatibility complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The arthropathy of the Muckle-Wells syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SAA1 alleles as risk factors in reactive systemic AA amyloidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

0 references

0 references

0 references

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24613164&oldid=1931781683"