|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this study, we aimed to correct p47phox-deficiency, which is the second most common cause of chronic granulomatous disease, by insertion of a therapeutic p47phox transgene into the AAVS1 locus of human induced PSC (iPSC) using CRISPR-Cas9.
|
31773990 |
2020 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
In a CGD phenotypic mouse strain (Ncf1** mice) build-up of SNECs in Ly6C<sup>HI</sup> blood monocytes was connected with a delayed degradation of the phagosomal cargo and accompanied by production of inflammatory mediators.
|
31349119 |
2019 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
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 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene.
|
29947158 |
2018 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
|
29411231 |
2018 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD.
|
28224353 |
2017 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
For human p47<sup>phox</sup>-deficient chronic granulomatous disease (CGD) vector testing we generated a cellular model using clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 to introduce a GT-dinucleotide deletion (ΔGT) mutation in p47<sup>phox</sup> encoding NCF1 gene in the human acute myeloid leukemia PLB-985 cell line.
|
28287132 |
2017 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
CGD clinically presents with recurrent and life-threatening infections as well as granulomatous inflammatory responses. p47<sup>phox</sup> encoded by the NCF1 gene is the most common autosomal recessive form of CGD which is often clinically milder.
|
27699571 |
2016 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective respiratory burst and thus diminished killing of bacteria and fungi.
|
27222152 |
2016 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the five structural genes (CYBB, CYBA, NCF1, NCF2, and NCF4) that typically results in a decrease in function or inability to generate a respiratory burst, leading to defective killing of pathogens, including fungi and intracellular bacteria.
|
27666509 |
2016 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.
|
26460255 |
2015 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In response to TLR7/9 ligands, B-cell lines derived from patients with CGD with mutations in either the NADPH oxidase p40(phox) or p47(phox) subunits produced only low levels of reactive oxygen species.
|
26340429 |
2015 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations were detected in CYBB gene in 6 patients with XL-CGD and NCF-1 gene mutations were observed in 7 cases of AR- CGD.
|
24276928 |
2014 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
This difference was comparable in p47(phox)- and gp91(phox)-deficient subtypes of CGD and independent of risk factors in multivariate regression analysis.
|
25239440 |
2014 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Sixteen patients from 14 unrelated families had X-linked CGD (66.7 %), four had mutations in the NCF1 gene (19 %), and three, from two unrelated families, had mutations in NCF2 (9.5 %) [Corrected].
|
24081483 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Diabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease.
|
23386289 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
A mutation in one of the 4 genes encoding the components p22(phox), p47(phox), p67(phox), and p40(phox) of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD.
|
23910690 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
We have now investigated in detail the breakpoints within or between these (pseudo) NCF1 genes in 43 families with p47(phox)-deficient CGD by means of multiplex ligase-dependent probe amplification (MLPA).
|
23688784 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects in the NADPH oxidase complex (gp91(phox), p22(phox), p40(phox), p47(phox), and p67(phox)) of phagocytes.
|
23826567 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
AlteredExpression
|
group |
BEFREE |
In this context, we analyzed the myelospecificity of the human miR223 promoter, which is known to be strongly upregulated during myeloid differentiation, to drive myeloid-restricted expression of p47(phox) and gp91(phox) in mouse models of CGD and in primary patient-derived cells.
|
23489116 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.
|
23306776 |
2013 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
We examined the potential of recombinant proteins to compensate for defective cytosolic components of the NADPH oxidase complex in chronic granulomatous disease (CGD) neutrophils in both p47(phox) and p67(phox) deficiency.
|
22138397 |
2012 |
|
Chronic granulomatous disease
|
0.400 |
Biomarker
|
group |
BEFREE |
The deltaGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.
|
23393912 |
2012 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our data show that CGD in Iran is predominantly due to mutations in p47-phox, while the number of mutations in p22-phox is roughly equal to that in gp91-phox.
|
20407811 |
2010 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This finding was confirmed genetically: rat or human CGD Mph with mutated p47(phox) or gp91(phox) displayed hampered Treg induction and T-cell suppression.
|
20861446 |
2010 |