IL-1 beta→Caspase 1→NLRP3 protein, human→Genes, BRCA1→BRCA1

• 19258328(IL-1+beta): NLRP3/cryopyrin is necessary for interleukin-1beta (IL-1beta) release in response to hyaluronan, an endogenous trigger of inflammation in response to injury.

  Similarly , the addition of hyaluronan to macrophages derived from cryopyrin-deficient mice increased release of Cxcl2 but did not increase IL-1beta release.

• 20506209(Caspase 1): Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3.

  The samples obtained from the patients displayed increased caspase 1 activity and elevated IL-1beta levels at basal conditions as compared with healthy control subjects.

• 17393462(NLRP3 protein, human): The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

  In a subset of mutation-negative patients , we screened for mutations in proteins that are either homologous to cryopyrin or involved in the caspase 1/interleukin -1 beta signaling pathway.

• 10065429(Genes, BRCA1): [Mutations in the BRCA1 gene in young Spanish women with breast cancer]

  Our aim was to know prevalence of BRCA1 mutations in women with breast cancer diagnosed before 40 years.

• 20346095(BRCA1): Are estrogen receptor-positive breast cancers in BRCA1 mutation carriers sporadic?

  There is a strong association between BRCA1 mutation carrier status and estrogen receptor-negative breast cancer.