Search Results - "Volpato, Claudia B"

Silencing of CCR4-NOT complex subunits affects heart structure and function by Elmén, Lisa, Volpato, Claudia B, Kervadec, Anaïs, Pineda, Santiago, Kalvakuri, Sreehari, Alayari, Nakissa N, Foco, Luisa, Pramstaller, Peter P, Ocorr, Karen, Rossini, Alessandra, Cammarato, Anthony, Colas, Alexandre R, Hicks, Andrew A, Bodmer, Rolf

“…The identification of genetic variants that predispose individuals to cardiovascular disease and a better understanding of their targets would be highly…”
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Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson’s disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method by Gilmozzi, Valentina, Gentile, Giovanna, Riekschnitz, Diana A., Volpato, Claudia B., Di Segni, Marina, Silipigni, Rosamaria, Pramstaller, Peter P., Hicks, Andrew A., Pichler, Irene, Zanon, Alessandra

“…The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson’s disease (PD). We…”
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Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease by Tang, Weihong, Schwienbacher, Christine, Lopez, Lorna M., Ben-Shlomo, Yoav, Oudot-Mellakh, Tiphaine, Johnson, Andrew D., Samani, Nilesh J., Basu, Saonli, Gögele, Martin, Davies, Gail, Lowe, Gordon D.O., Tregouet, David-Alexandre, Tan, Adrian, Pankow, James S., Tenesa, Albert, Levy, Daniel, Volpato, Claudia B., Rumley, Ann, Gow, Alan J., Minelli, Cosetta, Yarnell, John W.G., Porteous, David J., Starr, John M., Gallacher, John, Boerwinkle, Eric, Visscher, Peter M., Pramstaller, Peter P., Cushman, Mary, Emilsson, Valur, Plump, Andrew S., Matijevic, Nena, Morange, Pierre-Emmanuel, Deary, Ian J., Hicks, Andrew A., Folsom, Aaron R.

“…Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One…”
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Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50 by Ermon, Benedetta, Volpato, Claudia B., Cattelan, Giada, Silipigni, Rosamaria, Di Segni, Marina, Cantaloni, Chiara, Casella, Michela, Pramstaller, Peter P., Pompilio, Giulio, Sommariva, Elena, Meraviglia, Viviana, Rossini, Alessandra

“…Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium…”
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Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 by Volpato, Claudia B, De Grandi, Alessandro, Gögele, Martin, Taliun, Daniel, Fuchsberger, Christian, Facheris, Maurizio F, Minelli, Cosetta, Pattaro, Cristian, Pramstaller, Peter P, Hicks, Andrew A

“…Thyroid hormones have important roles in growth, development and control of metabolism, and their dysregulation can lead to disease. To identify genes…”
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The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives by Pattaro, Cristian, Marroni, Fabio, Riegler, Alice, Mascalzoni, Deborah, Pichler, Irene, Volpato, Claudia B, Dal Cero, Umberta, De Grandi, Alessandro, Egger, Clemens, Eisendle, Agatha, Fuchsberger, Christian, Gögele, Martin, Pedrotti, Sara, Pinggera, Gerd K, Stefanov, Stefan A, Vogl, Florian D, Wiedermann, Christian J, Meitinger, Thomas, Pramstaller, Peter P

“…There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For…”
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Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly by Domingues, Francisco S., König, Eva, Schwienbacher, Christine, Volpato, Claudia B., Picard, Anne, Cantaloni, Chiara, Mascalzoni, Deborah, Lackner, Peter, Heimbach, André, Hoffmann, Per, Stanzial, Franco, Hicks, Andrew A., Parmeggiani, Lucio, Benedicenti, Francesco, Pellegrin, Serena, Casara, Gianluca, Pramstaller, Peter P.

“…Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential…”
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Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2 by Grütz, Karen, Volpato, Claudia B., Domingo, Aloysius, Alvarez-Fischer, Daniel, Gebert, Uwe, Schifferle, Günther, Buffone, Ebba, Wszolek, Zbigniew K., Rademakers, Rosa, Ferbert, Andreas, Hicks, Andrew A., Klein, Christine, Pramstaller, Peter P., Westenberger, Ana

“…ABSTRACT Background Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified…”
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Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson’s Disease by Facheris, Maurizio F., Hicks, Andrew A., Minelli, Cosetta, Hagenah, Johann M., Kostic, Vladimir, Campbell, Susan, Hayward, Caroline, Volpato, Claudia B., Pattaro, Cristian, Vitart, Veronique, Wright, Alan, Campbell, Harry, Klein, Christine, Pramstaller, Peter P.

“…Based on the observed inverse association between hyperuricemia and Parkinson’s disease (PD) risk, the natural antioxidant activity of uric acid has been…”
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Functional evidence for the presence of type II 5'-deiodinase in somatotropes and its adaptive role in hypothyroidism by Volpato, C B, Nunes, M T

“…The anterior pituitary contains abundant type II iodothyronine 5'-deiodinase (D2). The role of this enzyme in mediating thyroid hormone action in the pituitary…”
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Letter to Editor in response to: "Linkage studies in familial idiopathic basal ganglia calcification: Separating the wheat from the chaff" by Oliveria et al. (AJMB 08-0193) by Volpato, Claudia B.

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Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead to SLC20A2: Genetic Cause Of PFBC In The ‘IBGC2’ Kindred by Grütz, Karen, Volpato, Claudia B., Domingo, Aloysius, Alvarez-Fischer, Daniel, Gebert, Uwe, Schifferle, Günther, Buffone, Ebba, Wszolek, Zbigniew K., Rademakers, Rosa, Ferbert, Andreas, Hicks, Andrew A., Klein, Christine, Pramstaller, Peter P., Westenberger, Ana

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Silencing of CCR4-NOT complex subunits affect heart structure and function by Elmén, Lisa, Volpato, Claudia B, Kervadec, Anaïs, Pineda, Santiago, Kalvakuri, Sreehari, Alayari, Nakissa N, Foco, Luisa, Pramstaller, Peter P, Ocorr, Karen, Rossini, Alessandra, Cammarato, Anthony, Colas, Alexandre R, Hicks, Andrew A, Bodmer, Rolf

“…Genome wide association studies (GWAS) have identified variants that associate with QT-interval length. Three of the strongest associating variants (SNPs) are…”
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A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function. e1003266 by Porcu, Eleonora, Medici, Marco, Pistis, Giorgio, Volpato, Claudia B, Wilson, Scott G, Cappola, Anne R, Bos, Steffan D, Deelen, Joris, Heijer, Martin den, Freathy, Rachel M

“…Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting…”
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GLUT4 gene expression in insulin-resistant obese rats involves post-transcriptional poly-A tail mRNA modulation by Seraphim, Patricia M, Assis, Thiago G.R, Volpato, Claudia B, Nunes, Maria T, Machado, Ubiratan F

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