RESUMO
MicroRNAs (miRNAs) are small noncoding regulatory RNAs that reduce stability and/or translation of fully or partially sequence-complementary target mRNAs. In order to identify miRNAs and to assess their expression patterns, we sequenced over 250 small RNA libraries from 26 different organ systems and cell types of human and rodents that were enriched in neuronal as well as normal and malignant hematopoietic cells and tissues. We present expression profiles derived from clone count data and provide computational tools for their analysis. Unexpectedly, a relatively small set of miRNAs, many of which are ubiquitously expressed, account for most of the differences in miRNA profiles between cell lineages and tissues. This broad survey also provides detailed and accurate information about mature sequences, precursors, genome locations, maturation processes, inferred transcriptional units, and conservation patterns. We also propose a subclassification scheme for miRNAs for assisting future experimental and computational functional analyses.
Assuntos
Sequência de Bases/genética , Perfilação da Expressão Gênica/métodos , Regulação da Expressão Gênica/genética , Biblioteca Gênica , MicroRNAs/genética , Animais , Linhagem da Célula/genética , Sequência Conservada/genética , Neoplasias Hematológicas/genética , Células-Tronco Hematopoéticas/metabolismo , Humanos , Camundongos , Dados de Sequência Molecular , Filogenia , RNA Mensageiro/genética , Ratos , Homologia de Sequência do Ácido NucleicoAssuntos
Leishmaniose Visceral/congênito , Adulto , Animais , Anticorpos Antiprotozoários/sangue , Feminino , Alemanha , Humanos , Lactente , Leishmania donovani/imunologia , Leishmaniose Visceral/tratamento farmacológico , Leishmaniose Visceral/transmissão , Gravidez , Complicações Parasitárias na GravidezRESUMO
UNLABELLED: We report a 13-year-old boy with an atypical manifestation of a multilocular paraganglioma. Surgical treatment was not curative despite extirpation of a left-sided abdominal paraganglioma. After surgery, the boy experienced several hypertensive crises. Further investigations including dopamine-positron emission tomography demonstrated bilateral adrenal tumours, a further right-sided paravertebral tumour as well as bilateral cervical glomus tumours. Genetic testing revealed a germline mutation in the succinate dehydrogenase subunit D (SDHD) gene. CONCLUSION: The final diagnosis was familial pheochromocytoma/paraganglioma type 1 (OMIM 168000). Antihypertensive treatment was succesfull and improved the patient's quality of life.