Suchergebnisse - "Usala, Gianluca"

Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits von Scuteri, Angelo, Sanna, Serena, Chen, Wei-Min, Uda, Manuela, Albai, Giuseppe, Strait, James, Najjar, Samer, Nagaraja, Ramaiah, Orrú, Marco, Usala, Gianluca, Dei, Mariano, Lai, Sandra, Maschio, Andrea, Busonero, Fabio, Mulas, Antonella, Ehret, Georg B, Fink, Ashley A, Weder, Alan B, Cooper, Richard S, Galan, Pilar, Chakravarti, Aravinda, Schlessinger, David, Cao, Antonio, Lakatta, Edward, Abecasis, Gonçalo R

“… The obesity epidemic is responsible for a substantial economic burden in developed countries and is a major risk factor for type 2 diabetes and cardiovascular …”
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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia von Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

“… beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian …”
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Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations von Tanaka, Toshiko, Scheet, Paul, Giusti, Betti, Bandinelli, Stefania, Piras, Maria Grazia, Usala, Gianluca, Lai, Sandra, Mulas, Antonella, Corsi, Anna Maria, Vestrini, Anna, Sofi, Francesco, Gori, Anna Maria, Abbate, Rosanna, Guralnik, Jack, Singleton, Andrew, Abecasis, Goncalo R, Schlessinger, David, Uda, Manuela, Ferrucci, Luigi

“… The B vitamins are components of one-carbon metabolism (OCM) that contribute to DNA synthesis and methylation. Homocysteine, a by-product of OCM, has been …”
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A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation von Naitza, Silvia, Porcu, Eleonora, Steri, Maristella, Taub, Dennis D., Mulas, Antonella, Xiao, Xiang, Strait, James, Dei, Mariano, Lai, Sandra, Busonero, Fabio, Maschio, Andrea, Usala, Gianluca, Zoledziewska, Magdalena, Sidore, Carlo, Zara, Ilenia, Pitzalis, Maristella, Loi, Alessia, Virdis, Francesca, Piras, Roberta, Deidda, Francesca, Whalen, Michael B., Crisponi, Laura, Concas, Antonio, Podda, Carlo, Uzzau, Sergio, Scheet, Paul, Longo, Dan L., Lakatta, Edward, Abecasis, Gonçalo R., Cao, Antonio, Schlessinger, David, Uda, Manuela, Sanna, Serena, Cucca, Francesco

“… Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a …”
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The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts von Li, Siguang, Sanna, Serena, Maschio, Andrea, Busonero, Fabio, Usala, Gianluca, Mulas, Antonella, Lai, Sandra, Dei, Mariano, Orrù, Marco, Albai, Giuseppe, Bandinelli, Stefania, Schlessinger, David, Lakatta, Edward, Scuteri, Angelo, Najjar, Samer S, Guralnik, Jack, Naitza, Silvia, Crisponi, Laura, Cao, Antonio, Abecasis, Gonçalo, Ferrucci, Luigi, Uda, Manuela, Chen, Wei-Min, Nagaraja, Ramaiah

“… High serum uric acid levels elevate pro-inflammatory-state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity and …”
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Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians von Pilia, Giuseppe, Chen, Wei-Min, Scuteri, Angelo, Orrú, Marco, Albai, Giuseppe, Dei, Mariano, Lai, Sandra, Usala, Gianluca, Lai, Monica, Loi, Paola, Mameli, Cinzia, Vacca, Loredana, Deiana, Manila, Olla, Nazario, Masala, Marco, Cao, Antonio, Najjar, Samer S, Terracciano, Antonio, Nedorezov, Timur, Sharov, Alexei, Zonderman, Alan B, Abecasis, Gonçalo R, Costa, Paul, Lakatta, Edward, Schlessinger, David

“… In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are …”
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Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability von Sanna, Serena, Li, Bingshan, Mulas, Antonella, Sidore, Carlo, Kang, Hyun M., Jackson, Anne U., Piras, Maria Grazia, Usala, Gianluca, Maninchedda, Giuseppe, Sassu, Alessandro, Serra, Fabrizio, Palmas, Maria Antonietta, Wood, William H., Njølstad, Inger, Laakso, Markku, Hveem, Kristian, Tuomilehto, Jaakko, Lakka, Timo A., Rauramaa, Rainer, Boehnke, Michael, Cucca, Francesco, Uda, Manuela, Schlessinger, David, Nagaraja, Ramaiah, Abecasis, Gonçalo R.

“… Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of …”
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Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 von Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nurnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Hohne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nurnberg, Peter, Rutsch, Frank

“… Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling …”
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Common variants in the GDF5-UQCC region are associated with variation in human height von Sanna, Serena, Jackson, Anne U, Nagaraja, Ramaiah, Willer, Cristen J, Chen, Wei-Min, Bonnycastle, Lori L, Shen, Haiqing, Timpson, Nicholas, Lettre, Guillaume, Usala, Gianluca, Chines, Peter S, Stringham, Heather M, Scott, Laura J, Dei, Mariano, Lai, Sandra, Albai, Giuseppe, Crisponi, Laura, Naitza, Silvia, Doheny, Kimberly F, Pugh, Elizabeth W, Ben-Shlomo, Yoav, Ebrahim, Shah, Lawlor, Debbie A, Bergman, Richard N, Watanabe, Richard M, Uda, Manuela, Tuomilehto, Jaakko, Coresh, Josef, Hirschhorn, Joel N, Shuldiner, Alan R, Schlessinger, David, Collins, Francis S, Smith, George Davey, Boerwinkle, Eric, Cao, Antonio, Boehnke, Michael, Abecasis, Gonçalo R, Mohlke, Karen L

“… Identifying genetic variants that influence human height will advance our understanding of skeletal growth and development. Several rare genetic variants have …”
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Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia von Sanna, Serena, Busonero, Fabio, Maschio, Andrea, McArdle, Patrick F, Usala, Gianluca, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Piras, Maria Grazia, Perseu, Lucia, Masala, Marco, Marongiu, Mara, Crisponi, Laura, Naitza, Silvia, Galanello, Renzo, Abecasis, Gonçalo R, Shuldiner, Alan R, Schlessinger, David, Cao, Antonio, Uda, Manuela

“… Bilirubin, resulting largely from the turnover of hemoglobin, is found in the plasma in two main forms: unconjugated or conjugated with glucuronic acid …”
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The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study von Scuteri, Angelo, Najjar, Samer S, Orru', Marco, Usala, Gianluca, Piras, Maria Grazia, Ferrucci, Luigi, Cao, Antonio, Schlessinger, David, Uda, Manuela, Lakatta, Edward G

“… We evaluated whether specific clusters of metabolic syndrome (MetS) components differentially impact on arterial structure and function, and whether the impact …”
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Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function von Arnaud-Lopez, Lisette, Usala, Gianluca, Ceresini, Graziano, Mitchell, Braxton D, Pilia, Maria Grazia, Piras, Maria Grazia, Sestu, Natascia, Maschio, Andrea, Busonero, Fabio, Albai, Giuseppe, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Crisponi, Laura, Tanaka, Toshiko, Bandinelli, Stefania, Guralnik, Jack M, Loi, Angela, Balaci, Lenuta, Sole, Gabriella, Prinzis, Alessia, Mariotti, Stefano, Shuldiner, Alan R, Cao, Antonio, Schlessinger, David, Uda, Manuela, Abecasis, Gonçalo R, Nagaraja, Ramaiah, Sanna, Serena, Naitza, Silvia

“… Thyroid-stimulating hormone (TSH) controls thyroid growth and hormone secretion through binding to its G protein-coupled receptor (TSHR) and production of …”
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Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome von Piras, Roberta, Chiappe, Francesca, Torraca, Ilaria La, Buers, Insa, Usala, Gianluca, Angius, Andrea, Akin, Mustafa Ali, Basel-Vanagaite, Lina, Benedicenti, Francesco, Chiodin, Elisabetta, El Assy, Osama, Feingold-Zadok, Michal, Guibert, Javier, Kamien, Benjamin, Kasapkara, Çiğdem Seher, Kılıç, Esra, Boduroğlu, Koray, Kurtoglu, Selim, Manzur, Adnan Y, Onal, Eray Esra, Paderi, Enrica, Roche, Carmen Herrero, Tümer, Leyla, Unal, Sezin, Utine, Gülen Eda, Zanda, Giovanni, Zankl, Andreas, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“… ABSTRACT Crisponi syndrome (CS) and cold‐induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle …”
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Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability: e1002198 von Sanna, Serena, Li, Bingshan, Mulas, Antonella, Sidore, Carlo, Kang, Hyun M, Jackson, Anne U, Piras, Maria Grazia, Usala, Gianluca, Maninchedda, Giuseppe, Sassu, Alessandro, Serra, Fabrizio, Palmas, Maria Antonietta, Wood III, William H, Njølstad, Inger, Laakso, Markku, Hveem, Kristian, Tuomilehto, Jaakko, Lakka, Timo A, Rauramaa, Rainer, Boehnke, Michael, Cucca, Francesco, Uda, Manuela, Schlessinger, David, Nagaraja, Ramaiah, Abecasis, Gonçalo R

“… Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of …”
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Common variants in the GDF5-BFZB region are associated with variation in human height von Sanna, Serena, Jackson, Anne U., Nagaraja, Ramaiah, Willer, Cristen J., Chen, Wei-Min, Bonnycastle, Lori L., Shen, Haiqing, Timpson, Nicholas, Lettre, Guillaume, Usala, Gianluca, Chines, Peter S., Stringham, Heather M., Dei, Mariano, Lai, Sandra, Albai, Giuseppe, Crisponi, Laura, Naitza, Silvia, Doheny, Kimberly F., Pugh, Elizabeth W., Ben-Shlomo, Yoav, Ebrahim, Shah, Lawlor, Debbie A., Bergman, Richard N., Watanabe, Richard M., Uda, Manuela, Tuomilehto, Jaakko, Coresh, Josef, Hirschhorn, Joel N., Shuldiner, Alan R., Schlessinger, David, Collins, Francis S., Smith, George Davey, Boerwinkle, Eric, Cao, Antonio, Boehnke, Michael, Abecasis, Gonçalo R., Mohlke, Karen L.

“… Identifying genetic variants that influence human height will further our understanding of skeletal growth and development. A number of rare genetic variants …”
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Amelioration of Sardinian beta0 thalassemia by genetic modifiers von Galanello, Renzo, Sanna, Serena, Perseu, Lucia, Sollaino, Maria Carla, Satta, Stefania, Lai, Maria Eliana, Barella, Susanna, Uda, Manuela, Usala, Gianluca, Abecasis, Goncalo R, Cao, Antonio

“… Sardinian beta-thalassemia patients all are homozygotes for the same null allele in the beta-globin gene, but the clinical manifestations are extremely …”
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Genome Wide Association Scan shows Genetic Variants in the FTO gene are Associated with Obesity Related Traits von Scuteri, Angelo, Sanna, Serena, Chen, Wei-Min, Uda, Manuela, Albai, Giuseppe, Strait, James, Najjar, Samer S., Nagarajah, Ramaiah, Orru, Marco, Usala, Gianluca, Dei, Mariano, Lai, Sandra, Maschio, Andrea, Busonero, Fabio, Mulas, Antonella, Ehret, George B, Fink, Ashley A, Weder, Alan, Cooper, Richard, Galan, Pilar, Chakravarti, Aravinda, Schlessinger, David, Cao, Antonio, Lakatta, Edward, Abecasis, Gonçalo

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Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians von Pilia, Giuseppe, Chen, Weimin, Scuteri, Angelo, Orru, Marco, Albai, Giuseppe, Dei, Mariano, Lai, Sandra, Usala, Gianluca, Lai, Monica, Loi, Paola, Mameli, Cinzia, Vacca, Loredana, Deiana, Manila, Olla, Nazario, Masala, Marco, Cao, Antonio, Najjar, Samer S, Terraciano, Antonio, Nedorezov, Timur, Sharov, Alexei A, Zonderman, Alan B, Abecasis, Goncalo, Costa, Paul, Lakatta, Edward, Schlessinger, David

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The GLUT9 Gene is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts von Li, Siguang, Sanna, Serena, Maschio, Andrea, Busonero, Fabio, Usala, Gianluca, Mulas, Antonella, Lai, Sandra, Dei, Mariano, Orru, Marco, Albai, Giuseppe, Bandinelli, Stephania, Schlessinger, David, Lakatta, Edward, Scuteri, Angelo, Najjar, Samer S., Jack, Guralnick, Naitza, Silvia, Crisponi, Laura, Cao, Antonio, Abecasis, Gonçalo, Ferrucci, Luigi, Uda, Manuela, Chen, Wei-Min, Nagaraja, Ramaiah

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