Navegando por Palavras-chave "transcription factors"

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    The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis
    (Walter de Gruyter Gmbh, 2014-03-01) Kizys, Marina M. L. [UNIFESP]; Nesi-Franca, Suzana; Cardoso, Mirian G. [UNIFESP]; Harada, Michelle Y. [UNIFESP]; Melo, Maria Clara C. [UNIFESP]; Chiamolera, Maria Izabel [UNIFESP]; Dias-da-Silva, Magnus R. [UNIFESP]; Maciel, Rui M. B. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Univ Fed Parana
    Background: the molecular mechanisms leading to the formation of the two thyroid symmetrical lobes, which are impaired in thyroid hemiagenesis (TH), are little known. Objective: the aim of this work was to search for mutations in thyroid developmental candidate genes HOXA3, HOXB3, HOXD3 and PITX2.Methods: Total DNA from peripheral blood was extracted and then the entire coding region of all these genes was amplified by polymerase chain reaction and direct sequencing.Results: Herein we describe familial cases of TH in two generations (proband and his father), in addition to other two sporadic cases. We have found polymorphisms in the HOXB3 (rs2229304), HOXD3 (rs34729309, rs1051929, c. 543199G > T and c. 543-34G > A; and a new synonymous variant, NP_ 008829.3: p. 314; C > G) and PITX2 (c. 45+ 76C > T) genes, but no deleterious mutations.Conclusion: These results suggest the existence of other left-right thyroid asymmetry candidate genes in humans such as classical Mendelian mutation-causing disease, as well as other etiopathogenic mechanisms such as epigenetic modifications, especially for sporadic hemiagenesis.
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    Co-ordinated expression of lymphoid and myeloid specific transcription factors during B-1b cell differentiation into mononuclear phagocytes in vitro
    (Wiley-Blackwell, 2009-01-01) Popi, Ana F. [UNIFESP]; Motta, Fabiana L. T. [UNIFESP]; Mortara, Renato A. [UNIFESP]; Schenkman, Sergio [UNIFESP]; Lopes, Jose D. [UNIFESP]; Mariano, Mario [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    We previously demonstrated that B-1b cells can undergo differentiation to acquire a mononuclear phagocyte phenotype upon attachment to substrate in vitro. Here we followed the expression of surface markers and transcription factors during this differentiation. B-1b cells spontaneously express both myeloid and lymphoid restricted transcription factors. When induced to differentiate into a phagocyte, the lymphoid genes E box protein (E2A), early B-cell factor (EBF), paired box 5 (Pax5) are down-modulated, while expression of genes related to myeloid commitment is sustained. Furthermore, B-1b cell-derived phagocytes (B-1CDPs) decrease immunoglobulin M (IgM) expression but retain the expression of the heavy chain variable gene VH11 or VH12, an immunoglobulin gene rearrangement predominantly expressed by B-1 cells. the maintenance of lymphoid characteristics in B-1CDPs characterizes a unique type of phagocyte, not related to monocyte-derived macrophages.
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    Expressão de marcadores relacionados ao potencial de diferenciação celular da articulação temporomandibular (atm) em fetos humanos
    (Universidade Federal de São Paulo (UNIFESP), 2016-05-31) Pagni, Tacia Catharine [UNIFESP]; Silva, Marcelo Cavenaghi Pereira da Silva [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    This study evaluated the immunohistochemical expression of proteins: OCT-4, NANOG, SOX-2, SOX-5 and STAT-3, which together characterize pluripotent embryonic cells. Methods: Twenty ATMs human fetuses aged between 12 and 20 weeks were used. Samples were dissected, fixed, decalcified, embedded in paraffin, cut and stained with hematoxylin / eosin for localization and subsequent immunohistochemical reaction. Results: NANOG, SOX-5 and STAT-3 showed cytoplasmic and nuclear staining in almost all cell layers of the mandibular fossa (dense connective layer, fibrocartilage, and proliferative bone formation), articular disc and the mandibular condyle (fibrous layer, proliferative, chondrocytes, hypertrophic chondrocytes and bone formation. It was not observed immunostaining for OCT-4 and SOX-2 in temporomandibular joint of human fetuses. Conclusion: Cell populations in this stage of ATM development have no characteristics of pluripotent cells but cells in differentiation.
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    Genetic and clinical characteristics of maturity-onset diabetes of the young
    (Blackwell Publishing, 2005-07-01) Giuffrida, Fernando MA [UNIFESP]; Reis, André F. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Fleury Lab
    Genetic factors play an important role in various forms of diabetes mellitus (DM), but inheritance is complex and interacts with environmental factors. Although in most cases type 2 DM (T2DM) and T1DM are polygenic disorders, several monogenic forms have been identified. Among them, maturity-onset diabetes of the young (MODY) has been the most intensively investigated. MODY is a group of six different forms of monogenic diabetes, characterized by insulin secretion defects in pancreatic P-cells, supposed to be responsible for 2-5% of all cases of diabetes. the most common are MODY2 and MODY3, caused by mutations in the genes encoding glucokinase and hepatocyte nuclear factor 1-alpha respectively. MODY2 is characterized by glucose sensing defects, leading to an increase in insulin secretion threshold. This causes lifelong sustained and mild hyperglycaemia from birth, most often in non-diabetic levels. Diagnosis is incidental in most cases. These patients are asymptomatic, seldom need treatment and rarely present chronic complications. MODY3 is characterized by a severe insulin secretion defect in response to glucose. Diagnosis is made usually in adolescence and early adulthood, often by osmotic symptoms. Hyperglycaemia is progressive, and patients frequently need treatment with oral drugs or insulin some time in their follow up. This group seems to have a marked sensitivity to sulphonylureas compared to other types of diabetes. the recognition of MODY as a monogenic disorder and a thorough understanding of its pathophysiology are important for correct diagnosis and treatment, with great impact on prognosis. Besides, the study of these forms of diabetes brings important contributions the understanding of glucose homeostasis as a whole.