|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
Biomarker
|
disease |
BEFREE |
For that, we used induced pluripotent stem cells (iPSCs) derived from X-linked Chronic Granulomatous Disease (X<sup>0</sup>CGD) patients with deficiency in NOX2, and AR22<sup>0</sup>CGD patients with deficiency in p22<sup>phox</sup> subunit which decreases NOX1, NOX2, NOX3 and NOX4 activities.
|
31626946 |
2020 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively.
|
30506560 |
2019 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
Biomarker
|
disease |
BEFREE |
Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.
|
29410324 |
2018 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
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.
|
26680691 |
2016 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
Biomarker
|
disease |
BEFREE |
Meanwhile, ongoing research is constantly refining the CGD disease phenotype, including the definition of factors that may explain the unique engraftment phenotype observed in CGD gene therapy trials.
|
25245086 |
2014 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CGD was established by a dihydrorhodamine 123 (DHR) assay and genetic analysis revealed an unusual intra-exonic splice mutation in the CYBB gene encoding gp91-phox.
|
17543165 |
2007 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among 6 X-linked CGD (X-CGD)patients, 4 different mutations were identified in the X-linked CYBB gene (encoding gp91phox)by direct sequencing.
|
15577746 |
2005 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CGD phenotypes included both "classic" disease with no detectable gp91-phox protein (termed X91(0)) and "variant" phenotype with reduced but detectable gp91-phox protein (X91(-)).
|
9851826 |
1998 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
Biomarker
|
disease |
BEFREE |
This vector was used to infect monocyte-derived macrophages of gp91phox-deficient CGD patients.
|
9231068 |
1997 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
Biomarker
|
disease |
BEFREE |
Therefore, we reassessed the possible use of this cell type for prenatal diagnosis of CGD patients comparing normal and CGD peripheral blood neutrophils (PMN) and skin fibroblasts in their reactive oxygen intermediate (ROI)-producing capacity.
|
8243611 |
1993 |
|
Peroxisome Biogenesis Disorder, Complementation Group D
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|