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A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome 56
Zhang,Y.; Zhang,F.; Chen,D.; Lü,Q.; Tang,L.; Yang,C.; Lei,M.; Tong,N..
Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Gitelman syndrome; SLC12A3 gene; Homozygous mutant; Pedigree.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001100701
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Potential benefit of (-)-epigallocatechin-3-gallate for macrovascular complications in diabetes 56
Tang,L.; Li,L.; Yang,J.; Zeng,C..
Vascular problems are the most common complications in diabetes. Substantial evidence from epidemiological and pathophysiological studies show that hyperglycemia is a major risk factor for macrovascular complications in patients with diabetes. (-)-Epigallocatechin-3-gallate (EGCG), the major catechin derived from green tea, is known to exert a variety of cardiovascular beneficial effects. The protective effects of EGCG in diabetes are also evident. However, whether EGCG is beneficial against macrovascular complications that occur in diabetes remains unknown. Our previous studies demonstrated that treatment of EGCG inhibits high glucose-induced vascular smooth muscle cell proliferation and suppresses high glucose-mediated vascular inflammation in human...
Tipo: Info:eu-repo/semantics/article Palavras-chave: (-)-Epigallocatechin-3-gallate; Diabetes; Macrovascular complications; Diabetes complications; Hypothesis.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017001000401
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