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1.
Clin. transl. oncol. (Print) ; 25(7): 2116-2126, jul. 2023. ilus, graf
Artigo em Inglês | IBECS | ID: ibc-222382

RESUMO

Objective The Zinc fingers and homeoboxes (ZHX) protein family has been reported to be involved in tumor development; however, it remains controversial whether these proteins can act as promoters or inhibitors of cancer development. The current study focused on the biological role of ZHX2 in ovarian cancer. Methods Tissue microarrays were established using 154 ovarian cancer samples. Immunohistochemical analysis was employed to determine the expression levels of ZHX2 in ovarian cancer samples. The prognostic analysis was performed using the Kaplan–Meier method and compared with a log-rank test. The specific role of ZHX2 in ovarian cancer was investigated in cell lines in vitro. Results It was found that ZHX2 was not significantly overexpressed in ovarian cancer samples; however, its expression was significantly correlated with advanced tumor grade. Patient survival analysis indicated that patients with high expression of ZHX2 exhibited worse overall survival rate compared with those with low expression of ZHX2. Furthermore, univariate and multivariate analyses demonstrated that ZHX2 was an independent prognostic factor of progression-free survival in patients with ovarian cancer. In vitro experiments indicated that inhibition of ZHX2 could significantly suppress ovarian cancer cell proliferation via induction of the apoptotic pathway. Conclusions The data indicated that ZHX2 may be considered a promising biomarker in ovarian cancer and that inhibition of its expression may be a potential therapeutic target in ovarian cancer treatment (AU)


Assuntos
Humanos , Feminino , Proteínas de Homeodomínio/genética , Neoplasias Ovarianas/tratamento farmacológico , Fatores de Transcrição/genética , Dedos de Zinco/genética , Genes Homeobox , Proliferação de Células , Apoptose
3.
Eur. j. anat ; 19(2): 179-188, abr. 2015. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-141208

RESUMO

Different variants of the ninth and tenth thoracic vertebrae are described in the literature with little information on their prevalence in human populations. To review this question, 5 osteological samples from different geographical areas were studied for the presence of costal facets on the eighth (T8), ninth (T9) and tenth (T10) thoracic vertebrae. We found that inferior costal facets on vertebral centrum were absent bilaterally in 1.5% of T8 and in 46% of T9; costal facets on both T10 transverse processes were absent in 39% of cases. Absence of inferior costal facets on the T8 and T9 centrum and costal facets on the T10 transverse processes was positively associated with cranial shifts at regional borders of the spine. However, additional analysis revealed that the position of the costo-central articulation at the level of T8 and T9 as well as the position of the most inferior "typical" thoracic vertebra significantly depended on sex (p<0.001). Sex differences were most pronounced at the level of T9 where females showed very frequent absence of inferior costal facets (76% of cases compared to 47% in males). This suggests a difference in an average 10th rib position in relation to the spine in females. Significant sex differences in the position of the most inferior "typical" thoracic vertebra may be partially explained by the fact that females in general are more likely to develop some forms of cranial shifts. However, according to the literature, the female axial skeleton possesses a complex of morphological features that is seen as an adaptation to pregnancy. In this view, the different position of the female 10th rib may be one component of the complex


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Assuntos
Humanos , Coluna Vertebral/anatomia & histologia , Vértebras Torácicas/anatomia & histologia , Sistema Musculoesquelético/anatomia & histologia , Genes Homeobox/genética , Caracteres Sexuais , Articulação Zigapofisária/anatomia & histologia
5.
Rev. neurol. (Ed. impr.) ; 47(12): 634-637, 16 dic., 2008. ilus
Artigo em Es | IBECS | ID: ibc-71829

RESUMO

Introducción. El retraso mental tiene una prevalencia aproximada del 2% en la población general, y la causa hereditaria más frecuente es el síndrome X frágil. Esta entidad afecta predominantemente a varones y está fundamentalmente causada por la expansión del triplete CGG en el gen FMR1. Recientemente, se ha demostrado que mutaciones en un nuevo gen llamado ARX (aristaless related homeobox) pueden ocasionar también una forma similar de retraso mental ligado al X, entreun amplio espectro de trastornos neurológicos relacionados (autismo, síndrome de Partington o síndrome de West, entre otros). La mutación más frecuentemente descrita, aproximadamente un 60% del total, es la duplicación de 24 pares de bases en el exón 2 (c.428_451 dup24), que produce una expansión de un tramo de polialanina en la proteína ARX. Casos clínicos.Se comunican tres casos de retraso mental no filiado, pertenecientes a dos familias distintas, en los que se halló la mutación en el gen ARX c.428_451 dup24 al realizar un estudio genético adicional al cribado de síndrome X frágil. Se describen los antecedentes personales y familiares, características fenotípicas y evolución de cada uno de ellos. Conclusión. El análisis molecular de dicha mutación debería considerarse de rutina para el diagnóstico genético de retraso mental en varones de causa no filiada


Introduction. Mental retardation has an approximated prevalence of 2% in the general population and its mostfrequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recently has been demonstrated that mutations in a new called ARX gene (aristalessrelated homeobox) can also cause a similar form of X linked mental retardation, as well as other neurological disorders (autism, Partington or West syndrome). The most frequent mutation that has been reported is the c.428_451 dup24, which comprises almost 60% of all described. It causes an expansion of a polyalanine tract of ARX protein. Case reports. We reportthree cases of mental retardation in two different families where the mutation in ARX gene c.428_451 dup24 was found while X-fragile syndrome screening was made. Personal and familiar history, phenotype and evolution are described. Conclusion. The molecular analysis of this mutation should be considered as a routine for the genetic diagnosis of mental retardation inmales of nondrafted cause


Assuntos
Humanos , Genes Homeobox/genética , Retardo Mental Ligado ao Cromossomo X/genética , Retardo Mental Ligado ao Cromossomo X/etiologia , Mutação/genética , Transtorno Autístico/genética , Distonia/genética , Epilepsia/genética , Síndrome do Cromossomo X Frágil/genética
6.
Med. clín (Ed. impr.) ; 129(supl.1): 29-35, oct. 2007. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-144196

RESUMO

A diferencia de las leucemias linfoblásticas agudas (LLA) infantiles, en las LLA del adulto se dispone de poca información acerca de los mecanismos moleculares subyacentes, por lo que, en la mayoría de las ocasiones, estos datos se han obtenido con la extrapolación de los hallazgos en las LLA infantiles. La alteración molecular más frecuente en las LLA del adulto es la fusión BCR/ABL, asociada con mal pronóstico. Esta anomalía sólo se observa en un tercio de los casos, mientras que en casi la mitad de estas leucemias no son evidentes las lesiones moleculares. En las LLA de células precursoras T se han descrito alteraciones relacionadas con los genes que codifican los receptores de las células T y, más recientemente, alteraciones de genes homeobox, NOCHT1, NUP214, ABL1 y MYB. Es muy importante conocer qué genes están afectados en las LLA, porque su seguimiento con técnicas de reacción en cadena de la polimerasa es de gran utilidad en el seguimiento de la enfermedad residual mínima, que se ha convertido en una metodología pronóstica de primer nivel. Las nuevas técnicas de análisis genómico, como el estudio por microarrays (micromatrices), están poniendo de manifiesto la presencia de nuevos genes afectados en las LLA del adulto susceptibles de usarse como dianas terapéuticas, lo que abre nuevas perspectivas en estas enfermedades, que todavía tienen mal pronóstico (AU)


Unlike childhood acute lymphoblastic leukemia (ALL), in adult ALL less information is available on the underlying molecular mechanisms of the disease. Consequently, these data have usually been extrapolated from findings in childhood ALL. The most frequent molecular alteration in adult ALL is the BCR/ABL fusion gene, which is associated with poor prognosis. This anomaly is only observed in one-third of patients, while molecular lesions are not found in almost half of these forms of leukemia. In T-cell acute lymphoblastic leukemia, alterations related to the genes codifying for the T-cell receptors have been described and, more recently, alterations in the homeobox, NOCHT1, NUP214, ABL1 and MYB genes have been reported. Knowledge of which genes are affected in ALL is essential as PCR monitoring is highly useful in the follow-up of minimal residual disease and has become a first line method for establishing prognosis. The new genome analysis techniques, such as microarray studies, are revealing the presence of other genes affected in adult ALL that could be used as therapeutic targets, leading to new possibilities in this disease, which still has poor prognosis (AU)


Assuntos
Adulto , Feminino , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células T Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células T Precursoras/genética , Prognóstico , Neoplasia Residual/diagnóstico , Neoplasia Residual/genética , Proteínas E2 de Adenovirus , Genes Homeobox/genética , Genes Homeobox/fisiologia
9.
Eur. j. anat ; 7(supl.1): 53-74, jul. 2003. ilus
Artigo em En | IBECS | ID: ibc-30370

RESUMO

Palatogenesis is a complex developmental process that requires two main events: elevation and then fusion of the palatal shelves. There remains controversy concerning the mechanism(s) responsible for palatal shelf elevation, it being proposed that an intrinsic shelf elevation force might be produced either by the generation of a turgor pressure following hydration of the extracellular matrix via its glycoconjugate molecules or by proliferation, migration and/or contraction of the palatal shelf mesenchymal cells. Recent evidence indicates that the shelf elevation force is related to the presence of hyaluronan in the extracellular matrix, to an as yet unknown molecule that is packaged in the mesenchymal cells' Golgi complex, and to CD44 receptor functioning. For fusion of the palatal shelves to occur, the breakdown of the midline epithelial seam relates to apoptosis and redifferentiation of the epithelial cells and this appears to be signalled by the synthesis of type IX collagen just prior to the breakdown of the basement membrane around the midline epithelial seam. The events associated with palatogenesis are controlled by the palatal shelf mesenchyme, under the influence of a variety of homeobox genes and transcription factors and and of several growth factors (particularly TGF-?s) (AU)


La palatogénesis es un proceso complejo del desarrollo embrionario que requiere dos hechos principales: la elevación y después la fusión de las apófisis palatinas. Existe una controversia respecto al(los) mecanismo(s) responsables de la elevación de la apófisis palatina, habiéndose propuesto que una fuerza intrínseca de elevación de esta apófisis podía ser producida bien por la generación de una presión turgente por hidratación de la matriz extracelular a través de sus moléculas glicoconjugadas o bien por proliferación, migración y/o contracción de las células mesenquimatosas de las apófisis palatinas. Evidencias recientes indican que esta fuerza de elevación está relacionada con la presencia de hialuronan en la matriz extracelular, con una molécula desconocida hasta ahora que es empaquetada en el complejo de Golgi de las células mesenquimatosas y con un receptor CD44 funcional. Para que ocurra la fusión de las apófisis palatinas, la ruptura de la sutura epitelial de la línea media se relaciona con apoptosis y rediferenciación de las células epiteliales y esto parece estar señalado por la síntesis de colágeno tipo IX justo previa a la ruptura de la membrana basal en torno a la sutura epitelial de la línea media. Los hechos asociados con la palatogénesis están controlados por el mesénquima de las apófisis palatinas bajo la influencia de una variedad de genes homeobox y factores de transcripción y de varios factores de crecimiento (particularmente TGF-Betas) (AU)


Assuntos
Humanos , Palato/embriologia , Colágeno/fisiologia , Genes Homeobox/fisiologia , Fatores de Transcrição/fisiologia , Fator de Crescimento Transformador beta/fisiologia
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