Chronic Granulomatous Disease: clinical, molecular and therapeutic aspects.
Roma, Italy. In Pediatr Allergy Immunol, Jan 2016
CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA, NCF1, NCF2 or NCF4 genes encoding p22(phox) , p47(phox) , p67(phox) and p40(phox) , respectively.
Exploring the (H2C═PH2)(+):N-Base Potential Surfaces: Complexes Stabilized by Pnicogen, Hydrogen, and Tetrel Bonds.
Youngstown, United States. In J Phys Chem A, Jan 2016
Ab initio MP2/aug'-cc-pVTZ calculations have been carried out to determine the structures, binding energies, and bonding properties of complexes involving the cation (H2C═PH2)(+) and a set of sp-hybridized nitrogen bases including NCCH3, NP, NCCl, NCH, NCF, NCCN, and N2.
Genetic disorders coupled to ROS deficiency.
Dublin, Ireland. In Redox Biol, Dec 2015
In particular, deficiency in phagocyte Nox2 oxidase function due to genetic variants (CYBB, CYBA, NCF1, NCF2, NCF4) has been recognized as a direct cause of chronic granulomatous disease (CGD), an inherited immune disorder.
Targeted imputation of sequence variants and gene expression profiling identifies twelve candidate genes associated with lactation volume, composition and calving interval in dairy cattle.
Australia. In Mamm Genome, Dec 2015
There was statistical support for imputed sequence variants in or close to BTRC, MGST1, SLC37A1, STAT5A, STAT5B, PAEP, VDR, CSF2RB, MUC1, NCF4, and GHDC associated with milk production, and EPGN for calving interval.
Chronic Granulomatous Disease
Seattle, United States. In Unknown Journal, 2012
CGD is caused by mutation of one of five genes that encode the subunits of phagocyte NADPH oxidase: biallelic mutations in CYBA, NCF1, NCF2, and NCF4 cause autosomal recessive CGD (AR-CGD); mutation of CYBB causes X-linked CGD.