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1.
J Neurooncol ; 56(1): 21-8, 2002 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11949823

RESUMO

UNLABELLED: As the value of grading of ependymomas is currently debated we studied the expression of proliferation- and apoptosis-related proteins in these tumors as these mechanisms both are suggested to be important in tumor growth. We characterized the immunohistochemical expression of p53, Mdm2, Bcl-2, and Bax in 51 intracranial ependymomas. We also assessed the apoptosis- and proliferation-index, measured by MIB-1, PCNA-immunohistochemistry, and analyzed the clinical parameters. Of all used antibodies, the correlation with survival and the correlation among ordered categories was assessed. None of the analyzed immunohistochemical variables were significantly correlated with tumor grade. On the other hand, PCNA, MIB-1, and p53 were significantly related to the survival of the patient. In multivariate analysis, p53 was the only independent predictive variable (p = 0.0132). CONCLUSION: The strongest predictors of survival in univariate analysis were the expression of PCNA, MIB-1 and p53. In multivariate analysis a p53 expression > 1% showed to be significantly related with a worse survival. The predicting value of p53 expression has to be confirmed by others before solid conclusions can be made. Apoptosis seems not to be an important mechanism in tumor growth in ependymomas. The expression of Mdm2, Bcl-2, and Bax were not related to survival.


Assuntos
Apoptose , Neoplasias Encefálicas/química , Neoplasias Encefálicas/mortalidade , Ependimoma/química , Ependimoma/mortalidade , Adolescente , Adulto , Idoso , Antígenos Nucleares , Neoplasias Encefálicas/patologia , Divisão Celular , Criança , Pré-Escolar , Ependimoma/patologia , Feminino , Humanos , Imuno-Histoquímica , Lactente , Antígeno Ki-67 , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares/análise , Valor Preditivo dos Testes , Antígeno Nuclear de Célula em Proliferação/análise , Proteínas Proto-Oncogênicas/análise , Proteínas Proto-Oncogênicas c-bcl-2/análise , Análise de Sobrevida , Proteína Supressora de Tumor p53/análise , Proteína X Associada a bcl-2
2.
Biochem Biophys Res Commun ; 286(3): 574-9, 2001 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-11511098

RESUMO

Serial analysis of gene expression (SAGE) was used to identify a gene named GOA (gene overexpressed in astrocytoma), which codes for a novel Ring finger B-box coiled-coil (RBCC) protein. Northern blot hybridization showed overexpression of GOA in 9 of 10 astrocytomas. Except for kidney, in which high expression was found, expression levels in normal tissues were low and comparable to normal brain. Immunohistochemistry demonstrated presence of GOA, with prominent nuclear staining, in astrocytoma tumor cells and astrocytes of fetal brain, but virtual absence in mature astrocytes. Overexpression was not due to amplification, since amplification of GOA was only found in one of 65 astrocytomas. GOA was localized to 17q24-25, a region that is frequently gained or amplified in a number of other tumor types. GOA contains two LXXLL motifs, which are thought to be important for nuclear receptor binding. Our data suggest an important role of GOA in the process of dedifferentiation that is associated with astrocytoma tumorigenesis and possibly with that of other tumor types as well.


Assuntos
Astrocitoma/metabolismo , Proteínas de Transporte/genética , Proteínas de Transporte/metabolismo , Proteínas de Neoplasias , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Motivos de Aminoácidos , Sequência de Aminoácidos , Astrocitoma/etiologia , Astrocitoma/genética , Sequência de Bases , Encéfalo/metabolismo , Cromossomos Humanos Par 17 , Perfilação da Expressão Gênica , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , RNA Mensageiro/biossíntese , RNA Neoplásico/biossíntese , Distribuição Tecidual
3.
J Neurol Neurosurg Psychiatry ; 63(4): 534-6, 1997 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9343141

RESUMO

Despite much effort, a 74 year old man with progressive proximal weakness and sensory disturbances due to axonal neuropathy remained a diagnostic problem. Investigation of his family disclosed an additional patient with a cerebellar syndrome and a family member with mainly pyramidal features. Analysis of DNA showed a CAG repeat expansion in the Machado-Joseph disease gene in all three patients. Although not conclusively proved, we think that the neuropathy of the index case is linked to the CAG repeat expansion. Machado-Joseph disease should be considered in progressive axonal neuropathy.


Assuntos
Axônios/patologia , Doença de Machado-Joseph/diagnóstico , Adulto , Idoso , Encefalopatias/patologia , Diagnóstico Diferencial , Eletromiografia , Humanos , Doença de Machado-Joseph/genética , Masculino , Condução Nervosa , Linhagem , Índice de Gravidade de Doença , Nervo Sural/patologia
4.
J Neurol Neurosurg Psychiatry ; 62(4): 367-71, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9120450

RESUMO

OBJECTIVES: To investigate relations between clinical and neuropathological features and age of onset, presence of anticipation, and genetic linkage in autosomal dominant cerebellar ataxia type II (ADCA II). METHODS: The natural history of ADCA II was studied on the basis of clinical and neuropathological findings in two pedigrees and genetic linkage studies were carried out with polymorphic DNA markers in the largest, four generation, pedigree. RESULTS: Ataxia was constant in all age groups. Retinal degeneration with early extinction of the electroretinogram constituted an important component in juvenile and early adult (< 25 years) onset but was variable in late adult presentation. Neuromuscular involvement due to spinal anterior horn disease was an important contributing factor to illness in juvenile cases. Postmortem findings in four patients confirm the general neurodegenerative nature of the disease, which includes prominent spinal anterior horn involvement and widespread involvement of grey and white matter. Genetic linkage was found with markers to chromosome 3p12-p21.1 (maximum pairwise lod score 4.42 at D3S1285). CONCLUSIONS: The sequence of clinical involvement seems related to age at onset. Retinal degeneration is variable in late onset patients and neuromuscular features are important in patients with early onset. Strong anticipation was found in subsequent generations. Linkage of ADCA II to chromosome 3p12-p21.1 is confirmed.


Assuntos
Ataxia Cerebelar/genética , Cromossomos Humanos Par 3 , Ligação Genética , Degeneração Retiniana/genética , Adolescente , Adulto , Biópsia , Encéfalo/patologia , Ataxia Cerebelar/complicações , Ataxia Cerebelar/diagnóstico , Eletromiografia , Eletrorretinografia , Feminino , Marcadores Genéticos , Genótipo , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/patologia , Linhagem , Degeneração Retiniana/complicações , Degeneração Retiniana/diagnóstico , Medula Espinal/patologia , Tomografia Computadorizada por Raios X
5.
Nat Genet ; 14(1): 113-5, 1996 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8782832

RESUMO

Among the diverse family of collagens, the widely expressed microfibrillar type VI collagen is believed to play a role in bridging cells with the extracellular matrix. Several observations imply substrate properties for cell attachment as well as association with major collagen fibers. Previously, we have established genetic linkage between the genes encoding the three constituent alpha-chains of type VI collagen and Bethlem myopathy. A distinctive feature of this autosomal dominant disorder consists of contractures of multiple joints in addition to generalized muscular weakness and wasting. Nine kindreds show genetic linkage to the COL6A1-COL6A2 cluster on chromosome 21q22.3 (refs 3,4; manuscript submitted) whereas one family shows linkage to markers on chromosome 2q37 close to COL6A3 (ref. 5). Sequence analysis in four families reveals a mutation in COL6A1 in one and a COL6A2 mutation in two other kindreds. Both mutations disrupt the Gly-X-Y motif of the triple helical domain by substitution of Gly for either Val or Ser. Analogous to the putative perturbation of the anchoring function of the dystrophin-associated complex in congenital muscular dystrophy with mutations in the alpha 2-subunit of laminin, our observations suggest a similar mechanism in Bethlem myopathy.


Assuntos
Colágeno/genética , Doenças Musculares/genética , Mutação , Sequência de Bases , Contratura , Primers do DNA , Feminino , Genes Dominantes , Marcadores Genéticos , Humanos , Masculino , Dados de Sequência Molecular , Linhagem
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