Medical Knowledge Cockpit granulomatous disease

• Phagosome
  Homo sapiens (human) 5 genes

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NCF1

• Sam68 from an immortalised B-cell line associates with a subset of SH3 domains
• p40(phox) down-regulates NADPH oxidase activity through interactions with its SH3 domain
• A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

NCF2

• Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers
• Normalization and subtraction: two approaches to facilitate gene discovery

CYBB

• NOX2 interacts with podocyte TRPC6 channels and contributes to their activation by diacylglycerol: essential role of podocin in formation of this complex.

CYBA

• Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation
• Association of the CYBA, PPARGC1A, PPARG3, and PPARD gene variants with coronary artery disease and metabolic risk factors of coronary atherosclerosis in a Russian population
• Accumulation of oxidative stress-related gene polymorphisms and the risk of coronary heart disease events in patients with type 2 diabetes--an 8-year prospective study
• RAGE and CYBA polymorphisms are associated with microalbuminuria and end-stage renal disease onset in a cohort of type 1 diabetes mellitus patients over a 20-year follow-up
• Association of p22phox gene C242T polymorphism with coronary artery disease: a meta-analysis

• Relationship of the p22phox (CYBA) gene polymorphism C242T with risk of coronary artery disease: a meta-analysis
• The A640G polymorphism in the NAD(P)H oxidase p22phox gene (CYBA) is associated with risk reduction of coronary heart disease: a meta-analysis
• Polymorphisms of C242T and A640G in CYBA gene and the risk of coronary artery disease: a meta-analysis

NCF4

• The Ku70 autoantigen interacts with p40phox in B lymphocytes
• Architecture of the p40-p47-p67phox complex in the resting state of the NADPH oxidase. A central role for p67phox
• Small angle neutron scattering and gel filtration analyses of neutrophil NADPH oxidase cytosolic factors highlight the role of the C-terminal end of p47phox in the association with p40phox

XK

• Kell and XK immunohistochemistry in McLeod myopathy