نتایج جستجو برای: cybb

تعداد نتایج: 522  

Journal: :Nucleic Acids Research 1990

Journal: :American journal of physiology. Heart and circulatory physiology 2015
Michael J Huber Rupsa Basu Cassie Cecchettini Adolfo E Cuadra Qing-Hui Chen Zhiying Shan

Previous studies have indicated that hyperactivity of brain prorenin receptors (PRR) is implicated in neurogenic hypertension. However, the role of brain PRR in regulating arterial blood pressure (ABP) is not well understood. Here, we test the hypothesis that PRR activation in the hypothalamic paraventricular nucleus (PVN) contributes to increased sympathetic nerve activity (SNA). In anaestheti...

Journal: :Pediatric blood & cancer 2015
Edgar Borges de Oliveira-Junior Nuria Bengala Zurro Carolina Prando Otavio Cabral-Marques Paulo Vitor Soeiro Pereira Lena-Friederick Schimke Stefanie Klaver Marcia Buzolin Lizbeth Blancas-Galicia Leopoldo Santos-Argumedo Dino Roberto Pietropaolo-Cienfuegos Francisco Espinosa-Rosales Alejandra King Ricardo Sorensen Oscar Porras Persio Roxo-Junior Wilma Carvalho Neves Forte Julio Cesar Orellana Alejandro Lozano Miguel Galicchio Lorena Regairaz Anete Sevciovic Grumach Beatriz Tavares Costa-Carvalho Jacinta Bustamante Liliana Bezrodnik Matias Oleastro Silvia Danielian Antonio Condino-Neto

AIM We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database. RESULTS Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was 23.9 months, and the mean age at CGD d...

2012
Koichi Oshima Takahiro Nagase Kohsuke Imai Shigeaki Nonoyama Megumi Obara Tomoyuki Mizukami Hiroyuki Nunoi Hirokazu Kanegane Futoshi Kuribayashi Shin Amemiya Osamu Ohara

To evaluate the effects of genetic variations on mRNA splicing, we developed a minigene-based splicing assay using reporter genes encoding luciferase and the multifunctional HaloTag protein. In addition to conventional RT-PCR analysis, splicing events can be monitored in this system using two parameters: luciferase activity and signals derived from HaloTag-containing proteins bound to a fluores...

Journal: :Journal of Immunology 2023

Abstract Chronic granulomatous disease (CGD) is characterized by recurrent bacterial and fungal infections due to reduced nicotinamide adenine dinucleotide phosphate oxidase resulting in impaired production of reactive oxidant species, aberrant inflammation. X-linked CGD (XL-CGD) associated with a mutation the CYBB gene. XL-CGD affects more males, although some females are affected skewed X-ina...

2013
Grace Y. Lam Marija Cemma Aleixo M. Muise Darren E. Higgins John H. Brumell

Listeria monocytogenes is a bacterial pathogen that can escape the phagosome and replicate in the cytosol of host cells during infection. We previously observed that a population (up to 35%) of L. monocytogenes strain 10403S colocalize with the macroautophagy marker LC3 at 1 h postinfection. This is thought to give rise to spacious Listeria-containing phagosomes (SLAPs), a membrane-bound compar...

Journal: :Arthritis Research & Therapy 2007
Lina M Olsson Anna-Karin Lindqvist Henrik Källberg Leonid Padyukov Harald Burkhardt Lars Alfredsson Lars Klareskog Rikard Holmdahl

Rheumatoid arthritis (RA) is a chronic inflammatory disease with a heritability of 60%. Genetic contributions to RA are made by multiple genes, but only a few gene associations have yet been confirmed. By studying animal models, reduced capacity of the NADPH-oxidase (NOX) complex, caused by a single nucleotide polymorphism (SNP) in one of its components (the NCF1 gene), has been found to increa...

2015
Rowan Flynn Alexander Grundmann Peter Renz Walther Hänseler William S. James Sally A. Cowley Michael D. Moore

Chronic granulomatous disease (CGD) is a rare genetic disease characterized by severe and persistent childhood infections. It is caused by the lack of an antipathogen oxidative burst, normally performed by phagocytic cells to contain and clear bacterial and fungal growth. Restoration of immune function can be achieved with heterologous bone marrow transplantation; however, autologous bone marro...

Journal: :Blood 1990
U Francke H D Ochs B T Darras A Swaroop

The most common X-linked recessive form of chronic granulomatous disease (X-CGD) is characterized by the absence of cytochrome b558 in neutrophils. In a rare variant form of X-CGD, cytochrome b558 is present but not functional. The gene (locus symbol CYBB) was localized to band Xp21 by studies of patients with small chromosome deletions. The gene was cloned based on its location and found to en...

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