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1.
Adv Rheumatol ; 64: 12, 2024. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1550011

RESUMEN

Abstract Background In a recent genome-wide association study, novel genetic variations of WNT9A were reported to be involved in the etiopathogenesis of thumb osteoarthritis (TOA) in Caucasians. Our purposes were to replicate the association of WNT9A with the development of TOA in the Chinese population and to further unveil the functional role of the risk variants. Methods SNP rs11588850 of WNT9A were genotyped in 953 TOA patients and 1124 healthy controls. The differences of genotype and allele distributions between the patients and healthy controls were evaluated using the Chi-square test. Luciferase Reporter Assay was performed to investigate the influence of variant on the gene expression. Results There was significantly lower frequency of genotype AA in TOA patients than in the controls 74.9% vs. 81.9%, p < 0.001). The frequency of allele A was remarkably lower in the patients than in the controls (86.3% vs. 90.5%, p < 0.001), with an odds ratio of 0.66 (95% CI = 0.54-0.80). Luciferase Reporter Assay showed that the construct containing mutant allele G of rs11588850 displayed 29.1% higher enhancer activity than the wild allele A construct (p < 0.05). Conclusions Allele G of rs11588850 was associated with the increased risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA. Key Points Genetic variants of WNT9A were associated with the incidence and severity of TOA. Allele G of rs11588850 was associated with an increased transcriptional activity of WNT9A promoter. Allele G of rs11588850 may add to the risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA.

2.
Acta Pharmaceutica Sinica ; (12): 635-639, 2004.
Artículo en Chino | WPRIM | ID: wpr-302746

RESUMEN

<p><b>AIM</b>To study the cytomedicine of alginate-poly (L) lysine-alginate (APA) microencapsulated hybridoma cells and their characteristics.</p><p><b>METHODS</b>The spleen cells taken from BALB/C mice immunized with purified human IgG1 kappa type were fused with mouse myeloma cells SP2/0. The hybridoma cell lines secreting monoclonal antibodies (mAb) against human IgG1 kappa type was named JY-A1. The APA microencapsulated JY-A1 cells were prepared with a high-voltage electrostatic system. Microencapsulation parameters were optimized and their morphology was studied. The mechanical strength and chemical intensity of microcapsules were measured. The mAb secrete from APA microencapsulated JY-A1 cells was determined by ELISA kit. The microcapsules injected into mice abdominal cavity previously were recovered at intervals.</p><p><b>RESULTS</b>The microcapsules prepared in the same condition of the high-voltage electrostatic system were round and homogeneous. The mAb secreted by the microencapsulated JY-A1 cells were shown to permeate the membranes of APA microcapsules in vitro. After an intraperitoneal injection to mice, APA microcapsules were recovered on day 7, 14, 28, 56. The electron microscopy study revealed that the majority of recovered microcapsules were intact, and no evidence of immunological reaction in terms of fibrosis.</p><p><b>CONCLUSION</b>APA microencapsulated hybridoma cells prepared by high-voltage electrostatic system have good mechanical strength and chemical intensity. The APA microencapsulated hybridoma cells can maintain physiological functions in vitro, and the microcapsules have good biocompatibility in vivo.</p>


Asunto(s)
Animales , Femenino , Ratones , Alginatos , Anticuerpos Monoclonales , Materiales Biocompatibles , Cápsulas , Hibridomas , Secreciones Corporales , Membranas Artificiales , Ratones Endogámicos BALB C , Mieloma Múltiple , Patología , Tamaño de la Partícula , Polilisina , Bazo , Biología Celular , Alergia e Inmunología
3.
Southeast Asian J Trop Med Public Health ; 2003 Jun; 34(2): 274-80
Artículo en Inglés | IMSEAR | ID: sea-34524

RESUMEN

To determine the genetic basis of the resistance of Schistosoma mansoni to praziquantel (PZQ) and to understand whether the resistance is dominant or recessive trait, a schistosome cross was undertaken between a PZQ-susceptible and a PZQ-resistant isolate using infections of the single-sex cercariae which were identified by a direct W1-specific PCR technique. The resistances of F1 and F2 generation to PZQ were evaluated using in vitro egg, miracidial and cercarial tests. The F1 hybrid progeny from crosses between the susceptible and resistant isolates were resistant to PZQ. The resistant phenotype reappeared in the F2 progeny. It can thus be considered that the PZQ resistance behaves like a dominant trait.


Asunto(s)
Animales , Resistencia a Medicamentos/genética , Femenino , Masculino , Ratones , Praziquantel/farmacología , Schistosoma mansoni/efectos de los fármacos , Esquistosomicidas/farmacología , Caracoles/parasitología
4.
J Genet ; 2003 Apr-Aug; 82(1-2): 23-6
Artículo en Inglés | IMSEAR | ID: sea-114510

RESUMEN

The human sprouty 4 (SPRY4) gene was localized to chromosome band 5q32 approximately 33 by screening the Stanford radiation hybrid G3 panel using a SPRY4-specific primer pair for PCR. Northern blot analysis revealed two different mRNAs (5 kb and 2 kb) in liver, skeletal muscle, heart, lung, kidney, spleen, placenta and small intestine. Reverse transcriptase-PCR analysis showed that SPRY4 was expressed in all tested tissues to different levels.


Asunto(s)
Northern Blotting , Mapeo Cromosómico , Cromosomas Humanos Par 5 , Cartilla de ADN/química , Humanos , Péptidos y Proteínas de Señalización Intracelular , Proteínas del Tejido Nervioso , Proteínas/genética , ARN Mensajero/metabolismo , Mapeo de Híbrido por Radiación , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Distribución Tisular
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