Elastin Deficiency
Mostrando 1-10 de 10 artigos, teses e dissertações.
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1. Development of a rabbit's urethral sphincter deficiency animal model for anatomical-functional evaluation
OBJECTIVE: The aim of the study was to develop a new durable animal model (using rabbits) for anatomical-functional evaluation of urethral sphincter deficiency. MATERIALS AND METHODS: A total of 40 New Zealand male rabbits, weighting 2.500 kg to 3.100 kg, were evaluated to develop an incontinent animal model. Thirty-two animals underwent urethrolysis and 8 a
International braz j urol. Publicado em: 2012-02
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2. Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de Williams-Beuren / Williams-Beuren syndrome: molecular diagnoses using polimorphic markers to 7q11.23 region
INTRODUÇÃO: A síndrome de Williams-Beuren (SWB) resulta de uma deleção de aproximadamente 1.5 Mb na região 7q11.23. A haploinsuficiência ocasiona alterações do desenvolvimento neurológico assim como malformações em múltiplos sistemas. OBJETIVOS: Testar utilidade de marcadores polimórficos para o diagnóstico da síndrome, determinar a proporç�
Publicado em: 2006
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3. Three-dimensional implants of polyanionic collagen in bone defects produced in the femur of ovariectomized rats / Implantes tridimensionais de colageno polianionico em falhas osseas produzidas no femur de ratas ovariectomizadas
There has been recent interest in the development of biomaterials that can be used as replacement of bone tissue or that act as inducer of the healing process in the case of bone fractures or defects. Biomaterials consisting of three-dimensional extracellular matrix elements (aECM) composed of collagen/elastin have the advantage that their properties can be
Publicado em: 2006
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4. Comparison of live human neutrophil and alveolar macrophage elastolytic activity in vitro. Relative resistance of macrophage elastolytic activity to serum and alveolar proteinase inhibitors.
Elastin is an extracellular matrix protein critical to the normal structure and function of human lung. Recently reported data indicate that live human alveolar macrophages can degrade purified elastin in vitro. In this study, we directly compared the elastolytic activity of alveolar macrophages with that of human neutrophils. In the absence of proteinase in
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5. Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome
To elucidate the pathomechanism leading to obstructive vascular disease in patients with elastin deficiency, we compared both elastogenesis and proliferation rate of cultured aortic smooth-muscle cells (SMCs) and skin fibroblasts from five healthy control subjects, four patients with isolated supravalvular aortic stenosis (SVAS), and five patients with Willi
The American Society of Human Genetics.
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6. Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome. Fluorescence in situ hybridisation with an elastin gene probe indicated the presence of a submicroscopic 7q11.23 deletion, confirming this dia
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7. Cystatin C deficiency in human atherosclerosis and aortic aneurysms
The pathogenesis of atherosclerosis and abdominal aortic aneurysm involves breakdown of the elastic laminae. Elastolytic cysteine proteases, including cathepsins S and K, are overexpressed at sites of arterial elastin damage, but whether endogenous local inhibitors counterbalance these proteases is unknown. We show here that, whereas cystatin C is normally e
American Society for Clinical Investigation.
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8. EMILIN-1 Deficiency Induces Elastogenesis and Vascular Cell Defects
EMILINs constitute a family of genes of the extracellular matrix with high structural similarity. Four genes have been identified so far in human and mouse. To gain insight into the function of this gene family, EMILIN-1 has been inactivated in the mouse by gene targeting. The homozygous animals were fertile and did not show obvious abnormalities. However, h
American Society for Microbiology.
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9. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1
Dissecting aortic aneurysm is the hallmark of Marfan syndrome (MFS) and the result of mutations in fibrillin-1, the major constituent of elastin-associated extracellular microfibrils. It is yet to be established whether dysfunction of fibrillin-1 perturbs the ability of the elastic vessel wall to sustain hemodynamic stress by disrupting microfibrillar assemb
The National Academy of Sciences.
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10. Loss of Thy-1 inhibits alveolar development in the newborn mouse lung
Transforming growth factor (TGF)-β mediates hypoxia-induced inhibition of alveolar development in the newborn lung. TGF-β is regulated primarily at the level of activation of latent TGF-β. Fibroblasts expressing Thy-1 (CD90) inhibit TGF-β activation. We hypothesized that loss of Thy-1 due to hypoxia may be a mechanism by which hypoxia increases TGF-β ac
American Physiological Society.