Wilson, P. J., Suthers, G. K., Callen, D. F., Baker, E., Nelson, P. V., Cooper, A., Wraith, J. E., Sutherland, G. R., Morris, C. P., Hopwood, J. J. 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.

Fujian Start Group Co.Ltd signed a letter of intent to acquire 51% stake in Fujian Nebula Big Data Application Service Co., Ltd. from Fujian Big Data Co., Ltd. In a 12-year-old boy with MPS II, Sukegawa et al. (1992) identified a missense mutation in the IDS gene (300823.0001). In the family with hyperaldosteronism reported by Geller et al. (2008), Choi et al. (2011) identified a missense mutation in the potassium channel gene KCNJ5 at codon 158 (T158A; 600734.0002). This mutation produced increased sodium conductance and caused severe hypertension. Choi et al. (2011) also identified 2 recurrent somatic mutations in and near the selectivity filter of KCNJ5, G151R ( 600734.0004), and L168R, that were present in 8 of 22 human aldosterone-producing adrenal adenomas studied. These 2 mutations produced increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). Any additional or special terms included by VWR in its written acceptance shall form part of the contract. The terms and conditions of the contract apply equally to the supply of both products and services except where application to one or the other is specified.The actual shade displayed/printed will depend on your system settings and should therefore be used for guidance only. Vanadur 1010 On termination of the contract for any reason the customer shall immediately pay to VWR all of its outstanding unpaid invoices and interest. Confidentiality Vanadur Plus bismuth vanadate pigments are silica-encapsulated yellows in two shades. The encapsulation providing improved chemical and heat resistance.

Bondeson, M.-L., Dahl, N., Malmgren, H., Kleijer, W. J., Tonnesen, T., Carlberg, B.-M., Pettersson, U. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.Scholl, U. I., Nelson-Williams, C., Yue, P., Grekin, R., Wyatt, R. J., Dillon, M. J., Couch, R., Hammer, L. K., Harley, F. L., Farhi, A., Wang, W.-H., Lifton, R. P. 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. Where delivery or performance dates are stated by VWR these are estimates only and time is not of the essence; however, if VWR needs to change such dates it will do so only after providing information to the customer and having regards to the customer’s stated objectives. Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene. 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.

In a mother and daughter with severe aldosteronism requiring total adrenalectomy, Charmandari et al. (2012) identified heterozygosity for a missense mutation in the KCNJ5 gene (I157S; 600734.0006). Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C-1327 to T substitution in the iduronate sulfatase gene.

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Identification of native atrial G-protein-regulated inwardly rectifying K+ (GIRK4) channel homomultimers. 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. This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; 103900), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in FH III are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension ( Geller et al., 2008). 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.

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. Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. 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). Palmieri et al. (1992) isolated a 1.2-Mb YAC contig spanning the IDS gene. Several putative CpG islands were identified in the region, suggesting the presence of other genes. Southern analysis of DNA from 25 unrelated Italian MPS II patients uncovered 4 with deletions or rearrangements in the IDS gene. DNA from a patient with a translocation breakpoint in the gene permitted orientation of the contig in relation to the centromere.

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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.