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1.
Hum Immunol ; 69(4-5): 227-34, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18486756

RESUMO

Human leukocyte antigen typing of 2578 donor-recipient pairs whose transplantation was facilitated by the National Marrow Donor Program allowed for an in-depth analysis of the accuracy of high-volume allele level testing data. The methods employed provided allele level typing at DRB1/3/5, DQA1, DQB1, DPA1, and DPB1 using sequence-specific oligonucleotide probe hybridization (SSOPH), polymerase chain reaction (PCR) restriction fragment length polymorphism analysis, sequence specific PCR, and direct sequence-based typing (SBT). Each typing was independently tested by two laboratories in Phase 1, and in subsequent phases targeted samples were typed in duplicate by SBT to monitor typing quality. Comparison with prior transplant center typing was also evaluated. SSOPH detected discrepancies ranged from 0.6% at DPB1 to 5.1% at DQB1 in Phase 1. The majority of discrepancies, 62%, resulted from human error such as sample handling, result interpretation, or clerical errors. Alleles that are frequently discrepant have been identified in this predominantly white population.


Assuntos
Transplante de Medula Óssea , Antígenos HLA-D/genética , Teste de Histocompatibilidade/métodos , Alelos , Humanos , Hibridização de Ácido Nucleico , Sondas de Oligonucleotídeos , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Reprodutibilidade dos Testes , Estudos Retrospectivos , Análise de Sequência de DNA/métodos
2.
Am J Pathol ; 159(3): 905-13, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11549583

RESUMO

Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by the expression of mutant ataxin-1 that contains an expanded polyglutamine tract. Overexpression of mutant ataxin-1 in Purkinje cells of transgenic mice results in a progressive ataxia and Purkinje cell pathology that are very similar to those seen in SCA1 patients. Two prominent aspects of pathology in the SCA1 mice are the presence of cytoplasmic vacuoles and dendritic atrophy. We found that the vacuoles in Purkinje cells seem to originate as large invaginations of the outer cell membrane. The cytoplasmic vacuoles contained proteins from the somatodendritic membrane, including mGluR1, GluRDelta1/Delta2, GluR2/3, and protein kinase C (PKC) gamma. Further examination of PKCgamma revealed that its sequestration into cytoplasmic vacuoles was accompanied by concurrent loss of PKCgamma localization at the Purkinje cell dendritic membrane and decreased detection of PKCgamma by Western blot analysis. In addition, the vacuoles were immunoreactive for components of the ubiquitin/proteasome degradative pathway. These findings present a link between vacuole formation and loss of dendrites in Purkinje cells of SCA1 mice and indicate that altered somatodendritic membrane trafficking and loss of proteins including PKCgamma, are a part of the neuronal dysfunction in SCA1 transgenic mice.


Assuntos
Proteínas de Membrana/metabolismo , Proteínas do Tecido Nervoso/fisiologia , Proteínas Nucleares/fisiologia , Células de Purkinje/metabolismo , Animais , Ataxina-1 , Ataxinas , Cisteína Endopeptidases/metabolismo , Citoplasma/metabolismo , Citoplasma/ultraestrutura , Dendritos/metabolismo , Membranas Intracelulares/metabolismo , Isoenzimas/metabolismo , Camundongos , Camundongos Transgênicos/genética , Complexos Multienzimáticos/metabolismo , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Proteínas Nucleares/genética , Complexo de Endopeptidases do Proteassoma , Proteína Quinase C/metabolismo , Receptores de Glutamato Metabotrópico/metabolismo , Distribuição Tecidual , Ubiquitinas/metabolismo
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