LMNICE 1/2" x 132" Deck Belt for Hustler 600734

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GIRK4 confers appropriate processing and cell surface localization to G-protein-gated potassium channels. Whitley, C. B., Anderson, R. A., Aronovich, E. L., Crotty, P. L., Anyane-Yeboa, K., Russo, D., Warburton, D.

Authorisation will be subject to the condition that the products are returned to VWR Customer Service Centre or to the manufacturer or other source and by the method advised by VWR. General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. Assignment of K(ATP)-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24. Mulatero et al. (2012) described an Italian mother and daughter with primary hyperaldosteronism, in whom the presence of the chimeric gene responsible for GRA had been excluded. The mother, who had a history of polyuria in the first decade of life, was initially reported to be hypertensive at age 18 years. Primary aldosteronism was diagnosed at 27 years of age, when she presented with hypertension, hypokalemia, decreased plasma renin activity, and elevated aldosterone levels that did not normalize after dexamethasone administration. On electrocardiogram, QTc was slightly prolonged at 456 ms, even after normalization of potassium levels. The daughter had polyuria and polydipsia at 2 years of age, and evaluation revealed hypertension, hypokalemia, and severe hyperaldosteronism with hypotonic urine and hypercalciuria. CT scans of the adrenal glands were normal in both patients, and symptoms in both were controlled with medication. Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P.

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Identification and partial characterization of two enzyme forms of iduronate sulfatase from human placenta. Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: genetic, pathological, and structural studies on iduronate-2-sulfatase. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). Kosuga, M., Mashima, R., Hirakiyama, A., Fuji, N., Kumagai, T., Seo, J.-H., Nikaido, M., Saito, S., Ohno, K., Sakuraba, H., Okuyama, T. Sukegawa, K., Song, X.-Q., Masuno, M., Fukao, T., Shimozawa, N., Fukuda, S., Isogai, K., Nishio, H., Matsuo, M., Tomatsu, S., Kondo, N., Orii, T.

Lin Qiang equity transfer agreement to acquire a 70% stake in Shenzhen Xing Fei Technology Company Limited from Fujian Start Group Co.Ltd for CNY 1 million. Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

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The G-protein-gated atrial K+ channel I-KACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins. Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.

Faust, C. J., Verkerk, A. J. M. H., Wilson, P. J., Morris, C. P., Hopwood, J. J., Oostra, B. A., Herman, G. E. In 2 of 22 aldosterone-producing adrenal adenomas (APAs) from unrelated patients with primary hyperaldosteronism (613677), Choi et al. (2011) identified a somatic G-to-A transition at position chr11:126,286,829 in the KCNJ5 gene, resulting in a gly151-to-arg (G151R) substitution. Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis. Identification of critical residues controlling G protein-gated inwardly rectifying K+ channel activity through interactions with the beta-gamma subunits of G proteins. Wilson et al. (1990) isolated and sequenced a 2.3-kb cDNA clone coding for the entire sequence of human IDS from an endothelial cell cDNA library. Analysis of the deduced 550-amino acid precursor indicated that IDS has a 25-amino acid amino-terminal signal sequence, followed by 8 amino acids that are removed from the proprotein. An internal proteolytic cleavage occurs to produce the mature 42- and 14-kD polypeptides observed in liver, kidney, lung, and placenta. A strong sequence homology was found with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. Northern blot analysis detected 3 major RNA species (5.7, 5.4, and 2.1 kb) and 1 minor species (1.4 kb).

In an Italian mother and daughter with primary aldosteronism, Mulatero et al. (2012) identified heterozygosity for a missense mutation in the KCNJ5 gene (G151E; 600734.0005). Murthy et al. (2014) analyzed the KCNJ5 gene in 251 patients with apparent sporadic florid primary aldosteronism, and identified 3 heterozygous missense mutations, G247R (rs200170681; 600734.0003), E246K (600734.0007), and R52H (rs144062083). In addition, 12 (5%) of the 251 patients carried the rare SNP E282Q (rs7102584), present at a population frequency of 2% in the 1000 Genomes cohort. Although remote from the KCNJ5 selectivity filter, 3 of the 4 variants (E246K, R52H, and E282Q) were shown to alter inward rectification, conduction of Na+ currents, and angiotensin II (106150)-induced aldosterone release in the H295R cell line, a well-established model for the human zona glomerulosa cell. Results of electrophysiologic analysis of the G247R channel, however, were indistinguishable from those of the wildtype channel.

Using atrial and endocardial left ventricular tissue samples from 4 patients undergoing cardiac valve surgery, Yang et al. (2010) demonstrated by Western blotting that Kir3.4 is expressed in human atria and ventricles. In an APA from a patient from Wurzburg with primary hyperaldosteronism, Mulatero et al. (2012) identified a somatic KCNJ5 G151R mutation. The mutation was not present in germline DNA from peripheral blood. Murthy et al. (2014) analyzed the KCNJ5 gene in 251 patients with apparent sporadic florid primary aldosteronism, and identified 3 heterozygous missense mutations, G247R ( rs200170681; 600734.0003), E246K ( 600734.0007), and R52H ( rs144062083). In addition, 12 (5%) of the 251 patients carried the rare SNP E282Q ( rs7102584), present at a population frequency of 2% in the 1000 Genomes cohort. Although remote from the KCNJ5 selectivity filter, 3 of the 4 variants (E246K, R52H, and E282Q) were shown to alter inward rectification, conduction of Na+ currents, and angiotensin II ( 106150)-induced aldosterone release in the H295R cell line, a well-established model for the human zona glomerulosa cell. Results of electrophysiologic analysis of the G247R channel, however, were indistinguishable from those of the wildtype channel. Geller et al. (2008) reported a novel familial form of aldosteronism in a father and 2 daughters. All were diagnosed with severe secondary hypertension (HTN) refractory to medical treatment by age 7 years. Geller et al. (2008) performed a variety of clinical, biochemical, and genetic studies to attempt to clarify the underlying molecular defect. Biochemical studies revealed hyporeninemia, hyperaldosteronism, and very high levels of 18-oxocortisol and 18-hydroxycortisol, steroids that reflect oxidation by both steroid 17-alpha hydroxylase and aldosterone synthase. These enzymes are normally compartmentalized in the adrenal fasciculata and glomerulosa, respectively. Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguished this clinical syndrome from glucocorticoid-remediable aldosteronism (GRA; 103900), another autosomal dominant form of HTN, and suggested a global defect in the regulation of adrenal steroid production. Because of unrelenting HTN, all 3 subjects underwent bilateral adrenalectomy, which in each case corrected the HTN. Adrenal glands showed dramatic enlargement, with paired adrenal weights as high as 82 grams. Histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa. The customer shall cooperate with VWR in all matters relating to the services, provide all such access and information as is necessary and obtain any licences permissions and consents required before commencement of the services.Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Choi et al. (2011) identified 2 recurrent somatic mutations in and near the selectivity filter of KCNJ5 present in 8 of 22 human aldosterone-producing adrenal adenomas: G151R ( 600734.0004) and L168R. In addition, Choi et al. (2011) identified heterozygosity for a missense mutation in KCNJ5 (T158A; 600734.0002) in a family segregating autosomal dominant hyperaldosteronism type III (HALD3; 613677). This mutation caused increased sodium conductance and severe aldosteronism and massive bilateral adrenal hyperplasia.