Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 5 de 5
Filtrar
Mais filtros










Intervalo de ano de publicação
2.
PLoS One ; 11(3): e0152159, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27003919

RESUMO

Antithrombin is a crucial anticoagulant serpin whose even moderate deficiency significantly increases the risk of thrombosis. Most cases with antithrombin deficiency carried genetic defects affecting exons or flanking regions of SERPINC1.We aimed to identify regulatory mutations inSERPINC1 through sequencing the promoter, intron 1 and 2 of this gene in 23 patients with antithrombin deficiency but without known genetic defects. Three cases with moderate antithrombin deficiency (63-78%) carried potential regulatory mutations. One located 200 bp before the initiation ATG and two in intron 1. These mutations disrupted two out of five potential vitamin D receptor elements (VDRE) identified in SERPINC1 with different software. One genetic defect, c.42-1060_-1057dupTTGA, was a new low prevalent polymorphism (MAF: 0.01) with functional consequences on plasma antithrombin levels. The relevance of the vitamin D pathway on the regulation of SERPINC1 was confirmed in a cell model. Incubation of HepG2 with paricalcitol, a vitamin D analog, increased dose-dependently the levels of SERPINC1transcripts and antithrombin released to the conditioned medium. This study shows further evidence of the transcriptional regulation of SERPINC1 by vitamin D and first describes the functional and pathological relevance of mutations affecting VDRE of this gene. Our study opens new perspectives in the search of new genetic defects involved in antithrombin deficiency and the risk of thrombosis as well as in the design of new antithrombotic treatments.


Assuntos
Deficiência de Antitrombina III/genética , Antitrombina III/genética , Predisposição Genética para Doença/genética , Mutação/genética , Elemento de Resposta à Vitamina D/genética , Adulto , Idoso de 80 Anos ou mais , Linhagem Celular Tumoral , Éxons/genética , Feminino , Células Hep G2 , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Tromboembolia/genética , Trombose/genética
4.
Mem Inst Oswaldo Cruz ; 109(6): 782-6, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25317706

RESUMO

In 2004, Aedes (Stegomyia) albopictus (Skuse, 1894) was observed for the first time in Catalonia, northeastern Spain. A decade later, it has spread throughout the eastern Mediterranean region of the country and the Balearic Islands. Framed within a national surveillance project, we present the results of monitoring in 2013 in the autonomous communities of the mainland Levante. The current study reveals a remarkable increase in the spread of the invasive mosquito in relation to results from 2012; the species was present and well-established in 48 municipalities, most of which were along the Mediterranean coastline from the Valencian Community to the Region of Murcia.


Assuntos
Aedes , Distribuição Animal , Insetos Vetores , Controle de Mosquitos/normas , Aedes/classificação , Animais , Cidades , Monitoramento Ambiental/normas , Região do Mediterrâneo , Espanha
5.
Mem. Inst. Oswaldo Cruz ; 109(6): 782-786, 09/09/2014. graf
Artigo em Inglês | LILACS | ID: lil-723995

RESUMO

In 2004, Aedes (Stegomyia) albopictus (Skuse, 1894) was observed for the first time in Catalonia, northeastern Spain. A decade later, it has spread throughout the eastern Mediterranean region of the country and the Balearic Islands. Framed within a national surveillance project, we present the results of monitoring in 2013 in the autonomous communities of the mainland Levante. The current study reveals a remarkable increase in the spread of the invasive mosquito in relation to results from 2012; the species was present and well-established in 48 municipalities, most of which were along the Mediterranean coastline from the Valencian Community to the Region of Murcia.


Assuntos
Animais , Aedes , Distribuição Animal , Insetos Vetores , Controle de Mosquitos/normas , Aedes/classificação , Cidades , Monitoramento Ambiental/normas , Região do Mediterrâneo , Espanha
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...