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Pàgina 1 des de 21 resultats
Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice.
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Tubulin tyrosine ligase-like 1 (TTLL1) protein is a member of the tubulin tyrosine ligase superfamily of proteins that are involved in the posttranslational polyglutamylation of tubulin in axonemal microtubules within cilia and flagella. To investigate the physiological role of TTLL1, the authors
Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report
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Background: X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton's tyrosine kinase (BTK). We found a new mutation point and summarized the correlation analysis and performed a
A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.
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BACKGROUND
X-linked agammaglobulinemia (XLA) is a severe, life-threatening disease characterized by failure of B cell differentiation and antibody production and is associated with mutations in Bruton's tyrosine kinase (Btk). The proband in this study is a 51-year-old male presenting with chronic
Characterization of oxidative pathways in chronic rhinosinusitis and sinonasal polyposis.
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Eosinophils are a characteristic inflammatory cell infiltrate in both chronic rhinosinusitis (CRS) and sinonasal polyposis (SNP). The posttranslational modifications, 3-bromo-tyrosine (Br-Tyr) and 3-chloro-tyrosine (Cl-Tyr), serve as specific molecular markers for production of
Identification of key genes and pathways in chronic rhinosinusitis with nasal polyps using bioinformatics analysis.
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Mechanisms of aspirin desensitization.
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Aspirin-exacerbated respiratory disease is a clinical syndrome characterized by severe, persistent asthma, hyperplastic eosinophilic sinusitis with nasal polyps, and reactions to aspirin and other nonsteroidal antiinflammatory drugs that preferentially inhibit cyclooxygenase 1. The mechanisms behind
Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia.
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X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia.
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X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this
Expression of Syk is associated with nasal polyp in patients with allergic rhinitis.
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Numerous signalings are involved in allergic inflammation. The non-receptor protein tyrosine kinase, Syk, is widely expressed in immune-potentiated cells and plays critical roles in initiating signal transduction in response to the activation of cytokine, chemokine and other types of
[Clinical features of X-linked agammaglobulinemia: analysis of 8 cases].
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X-linked agammaglobulinemia (XLA), caused by mutations in Bruton's tyrosine kinase (BTK), is a common form of inherited antibody deficiency. There were very few case reports of this disease that were diagnosed only based on clinical findings in China. The purpose of this study was to
X-linked agammaglobulinemia in northern Thailand.
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X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed
Survival of wild polio by a patient with XLA.
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X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by failure of B-cell differentiation and hypogammaglobulinemia. In addition to being susceptible to bacterial infections, patients with XLA are also susceptible to enteroviruses. Systemic enterocytopathogenic
Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family.
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X-linked agammaglobulinemia is typically a severe life-threatening disease characterized by the failure of B-cell differentiation and antibody production, which manifests in infancy and early childhood. Recently, we reported a novel mutation (Cys145-->STOP) in Bruton's tyrosine kinase in
Novel cooperation between CX3CL1 and CCL26 inducing NK cell chemotaxis via CX3CR1: a possible mechanism for NK cell infiltration of the allergic nasal tissue.
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Recent data indicated that natural killer (NK) cells and chemokines could play a pivotal role in nasal inflammation. CX3CR1, the only receptor for fractalkine/CX3CL1, is abundantly expressed by NK cells, and was recently shown to also be a receptor for eotaxin-3/CCL26. However, no reports
The effect of aspirin desensitization on novel biomarkers in aspirin-exacerbated respiratory diseases.
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BACKGROUND
Patients with aspirin-exacerbated respiratory disease have been shown to benefit clinically from aspirin desensitization followed by chronic high-dose aspirin therapy. However, the mechanism of this phenomenon is still unclear.
OBJECTIVE
The aim of this study was to characterize the
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* Tota la informació es basa en investigacions científiques publicades
