نتایج جستجو برای: cybb

تعداد نتایج: 522  

2016
Magdalena Laugsch Maria Rostovskaya Sergiy Velychko Cornelia Richter Ariane Zimmer Barbara Klink Evelin Schröck Michael Haase Katrin Neumann Sebastian Thieme Joachim Roesler Sebastian Brenner Konstantinos Anastassiadis

Chronic granulomatous disease (CGD) is an inherited immunodeficiency, caused by the inability of neutrophils to produce functional NADPH oxidase required for fighting microbial infections. The X-linked form of CGD (X-CGD), which is due to mutations in the CYBB (gp91phox) gene, a component of NADPH oxidase, accounts for about two-thirds of CGD cases. We derived induced pluripotent stem cells (iP...

Journal: :Blood 1999
G Marziali E Perrotti R Ilari E M Coccia R Mantovani U Testa A Battistini

In this study, we analyzed the regulation of NF-Y expression during human monocyte to macrophage maturation. NF-Y is a ubiquitous and evolutionarily conserved transcription factor that binds specifically to the CCAAT motif present in the 5' promoter region of a wide variety of genes. We show here that in circulating monocytes, NF-Y binding activity is not detected on the CCAAT motif present in ...

Journal: :Physiological genomics 2013
Jaume Padilla Nathan T Jenkins Sewon Lee Hanrui Zhang Jian Cui Mozow Y Zuidema Cuihua Zhang Michael A Hill James W Perfield Jamal A Ibdah Frank W Booth J Wade Davis M Harold Laughlin R Scott Rector

We adopted a transcriptome-wide microarray analysis approach to determine the extent to which vascular gene expression is altered as a result of juvenile obesity and identify obesity-responsive mRNAs. We examined transcriptional profiles in the left anterior descending coronary artery (LAD), perivascular fat adjacent to the LAD, and descending thoracic aorta between obese (n = 5) and lean (n = ...

Journal: :Human mutation 2005
Yi-Ning Su Chia-Cheng Hung Hung Li Chien-Nan Lee Wen-Fang Cheng Po-Nien Tsao Ming-Cheng Chang Chia-Li Yu Wu-Shiun Hsieh Win-Li Lin Su-Ming Hsu

Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new, rapid, simple, and highly reliable method for detecting the SMN1 deletion/con...

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