973 resultados para molecule imprinting
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J Biol Inorg Chem (2008) 13:1321–1333 DOI 10.1007/s00775-008-0416-1
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J Biol Inorg Chem (2007) 12:777–787 DOI 10.1007/s00775-007-0229-7
Correlating EPR and X-ray structural analysis of arsenite-inhibited forms of aldehyde oxidoreductase
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J Biol Inorg Chem (2007) 12:353–366 DOI 10.1007/s00775-006-0191-9
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J Biol Inorg Chem (2004) 9: 839–849 DOI 10.1007/s00775-004-0584-6
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J Biol Inorg Chem (2004) 9: 145–151 DOI 10.1007/s00775-003-0506-z
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Dissertação para obtenção do Grau de Doutor em Bioquímica, Especialidade Bioquímica Estrutural
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Patients with pseudohypoparathyroidism type Ib (PHP-Ib) present hypocalcemia and hyperphosphatemia, as a consequence of a resistance to PTH action, through its G-protein-coupled receptor, in the renal tubules. This resistance results from tissue-specific silencing of the G-protein alpha-subunit (G(s)α), due to imprinting disruption of its encoding locus--GNAS. In familial PHP-Ib, maternally inherited deletions at the STX16 gene are associated to a regional GNAS methylation defect. In sporadic PHP-Ib, broad methylation changes at GNAS arise from unknown genetic causes. In this study, we describe the clinical presentation of PHP-Ib in four Portuguese patients (two of whom were siblings), and provide further insight for the management of patients with this disease. The diagnosis of PHP-Ib was made after detection of GNAS imprinting defects in each of the cases. In the siblings, a regional GNAS methylation change resulted from a known 3.0 kb STX16 deletion. In the other two patients, the broad methylation defects at GNAS, which were absent in their relatives, resulted from genetic alterations that remain to be identified. We report the first clinical and genetic study of Portuguese patients with PHP-Ib. The genetic identification of a hereditary form of this rare disease allowed an early diagnosis, and may prevent hypocalcemia-related complications.
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Dissertação para obtenção do Grau de Mestre em Mestrado em Conservação e Restauro, especialização em Ciências da Conservação
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Dissertação para obtenção do Grau de Doutor em Engenharia Química e Bioquímica
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Immunological tolerance, that is, the failure to mount an immune response to an otherwise immunogenic molecule, is one of the fundamental questions in immunology. The fact that lymphocytes express antigen receptors that are generated randomly and have the potential to recognize any conceivable antigen, adds another puzzle to the physiology of immunological tolerance. The other side of the coin, the general absence of immune responses to self antigens, is ensured by a tight regulation and several selection steps during T and B cell differentiation. One of these processes is the differentiation of regulatory T cells (Treg). While developing in the thymus, T cell clones bearing receptors with high affinity/avidity to antigens present at the time of differentiation may be eliminated by apoptosis or, alternatively, express Foxp3 and become Treg. Treg are key players in the regulation of immunological tolerance since humans and mice with complete loss of function variants of this gene develop fatal autoimmune conditions early in life.(...)
The Role of Small RNAs and Ribonucleases in the Control of Gene Expression in Salmonella Typhimurium
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Dissertation presented to obtain the Ph.D degree in Biology
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Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina
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Dissertação para obtenção do Grau de Doutor em Engenharia Física
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Doctorate in Biology, Specialty in Biotechnology
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Dissertação para obtenção do Grau de Doutor em Química Sustentável