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A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome BJMBR
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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Changes in tau phosphorylation levels in the hippocampus and frontal cortex following chronic stress BJMBR
Yang,C.; Guo,X.; Wang,G.H.; Wang,H.L.; Liu,Z.C.; Liu,H.; Zhu,Z.X.; Li,Y..
Studies have indicated that early-life or early-onset depression is associated with a 2- to 4-fold increased risk of developing Alzheimers disease (AD). In AD, aggregation of an abnormally phosphorylated form of the tau protein may be a key pathological event. Tau is known to play a major role in promoting microtubule assembly and stabilization, and in maintaining the normal morphology of neurons. Several studies have reported that stress may induce tau phosphorylation. The main aim of the present study was to investigate possible alterations in the tau protein in the hippocampus and frontal cortex of 32 male Sprague-Dawley rats exposed to chronic unpredictable mild stress (CUMS) and then re-exposed to CUMS to mimic depression and the recurrence of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Alzheimers disease; Depression; Tau; Chronic unpredictable mild stress (CUMS); Re-exposure to CUMS; Fluoxetine.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000300237
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