Pesquisa | Biblioteca Virtual em Saúde

1.

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Soldà, Giulia; Caccia, Sonia; Robusto, Michela; Chiereghin, Chiara; Castorina, Pierangela; Ambrosetti, Umberto; Duga, Stefano; Asselta, Rosanna.

J Hum Genet; 61(4): 295-300, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-26657938

2.

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis.

Cardamone, Giulia; Paraboschi, Elvezia M; Soldà, Giulia; Cantoni, Claudia; Supino, Domenico; Piccio, Laura; Duga, Stefano; Asselta, Rosanna.

Hum Mol Genet; 28(9): 1414-1428, 2019 05 01.

Artigo em Inglês | MEDLINE | ID: mdl-30566690

3.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Do, Ron; Stitziel, Nathan O; Won, Hong-Hee; Jørgensen, Anders Berg; Duga, Stefano; Angelica Merlini, Pier; Kiezun, Adam; Farrall, Martin; Goel, Anuj; Zuk, Or; Guella, Illaria; Asselta, Rosanna; Lange, Leslie A; Peloso, Gina M; Auer, Paul L; Girelli, Domenico; Martinelli, Nicola; Farlow, Deborah N; DePristo, Mark A; Roberts, Robert; Stewart, Alexander F R; Saleheen, Danish; Danesh, John; Epstein, Stephen E; Sivapalaratnam, Suthesh; Hovingh, G Kees; Kastelein, John J; Samani, Nilesh J; Schunkert, Heribert; Erdmann, Jeanette; Shah, Svati H; Kraus, William E; Davies, Robert; Nikpay, Majid; Johansen, Christopher T; Wang, Jian; Hegele, Robert A; Hechter, Eliana; Marz, Winfried; Kleber, Marcus E; Huang, Jie; Johnson, Andrew D; Li, Mingyao; Burke, Greg L; Gross, Myron; Liu, Yongmei; Assimes, Themistocles L; Heiss, Gerardo; Lange, Ethan M; Folsom, Aaron R.

Nature; 518(7537): 102-6, 2015 Feb 05.

Artigo em Inglês | MEDLINE | ID: mdl-25487149

4.

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Stitziel, Nathan O; Stirrups, Kathleen E; Masca, Nicholas G D; Erdmann, Jeanette; Ferrario, Paola G; König, Inke R; Weeke, Peter E; Webb, Thomas R; Auer, Paul L; Schick, Ursula M; Lu, Yingchang; Zhang, He; Dube, Marie-Pierre; Goel, Anuj; Farrall, Martin; Peloso, Gina M; Won, Hong-Hee; Do, Ron; van Iperen, Erik; Kanoni, Stavroula; Kruppa, Jochen; Mahajan, Anubha; Scott, Robert A; Willenberg, Christina; Braund, Peter S; van Capelleveen, Julian C; Doney, Alex S F; Donnelly, Louise A; Asselta, Rosanna; Merlini, Piera A; Duga, Stefano; Marziliano, Nicola; Denny, Josh C; Shaffer, Christian M; El-Mokhtari, Nour Eddine; Franke, Andre; Gottesman, Omri; Heilmann, Stefanie; Hengstenberg, Christian; Hoffman, Per; Holmen, Oddgeir L; Hveem, Kristian; Jansson, Jan-Håkan; Jöckel, Karl-Heinz; Kessler, Thorsten; Kriebel, Jennifer; Laugwitz, Karl L; Marouli, Eirini; Martinelli, Nicola; McCarthy, Mark I.

N Engl J Med; 374(12): 1134-44, 2016 03 24.

Artigo em Inglês | MEDLINE | ID: mdl-26934567

5.

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Asselta, Rosanna; Paraboschi, Elvezia Maria; Rimoldi, Valeria; Menegatti, Marzia; Peyvandi, Flora; Salomon, Ophira; Duga, Stefano.

Blood; 130(4): e1-e6, 2017 07 27.

Artigo em Inglês | MEDLINE | ID: mdl-28615222

6.

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest.

Samarani, Maura; Loberto, Nicoletta; Soldà, Giulia; Straniero, Letizia; Asselta, Rosanna; Duga, Stefano; Lunghi, Giulia; Zucca, Fabio A; Mauri, Laura; Ciampa, Maria Grazia; Schiumarini, Domitilla; Bassi, Rosaria; Giussani, Paola; Chiricozzi, Elena; Prinetti, Alessandro; Aureli, Massimo; Sonnino, Sandro.

FASEB J; 32(10): 5685-5702, 2018 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-29746165

7.

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.

Nomura, Akihiro; Won, Hong-Hee; Khera, Amit V; Takeuchi, Fumihiko; Ito, Kaoru; McCarthy, Shane; Emdin, Connor A; Klarin, Derek; Natarajan, Pradeep; Zekavat, Seyedeh M; Gupta, Namrata; Peloso, Gina M; Borecki, Ingrid B; Teslovich, Tanya M; Asselta, Rosanna; Duga, Stefano; Merlini, Piera A; Correa, Adolfo; Kessler, Thorsten; Wilson, James G; Bown, Matthew J; Hall, Alistair S; Braund, Peter S; Carey, David J; Murray, Michael F; Kirchner, H Lester; Leader, Joseph B; Lavage, Daniel R; Manus, J Neil; Hartze, Dustin N; Samani, Nilesh J; Schunkert, Heribert; Marrugat, Jaume; Elosua, Roberto; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Juang, Jyh-Ming J; Hsiung, Chao A; Lin, Shih-Yi; Wang, Jun-Sing; Tada, Hayato; Kawashiri, Masa-Aki; Inazu, Akihiro; Yamagishi, Masakazu; Katsuya, Tomohiro; Nakashima, Eitaro; Nakatochi, Masahiro; Yamamoto, Ken; Yokota, Mitsuhiro.

Circ Res; 121(1): 81-88, 2017 Jun 23.

Artigo em Inglês | MEDLINE | ID: mdl-28506971

8.

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.

Paraboschi, Elvezia Maria; Menegatti, Marzia; Peyvandi, Flora; Duga, Stefano; Asselta, Rosanna.

Int J Mol Sci; 20(4)2019 Feb 20.

Artigo em Inglês | MEDLINE | ID: mdl-30791524

9.

The immunobiology of female predominance in primary biliary cholangitis.

Gerussi, Alessio; Cristoferi, Laura; Carbone, Marco; Asselta, Rosanna; Invernizzi, Pietro.

J Autoimmun; 95: 124-132, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30509386

10.

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero, Letizia; Guella, Ilaria; Cilia, Roberto; Parkkinen, Laura; Rimoldi, Valeria; Young, Alexander; Asselta, Rosanna; Soldà, Giulia; Sossi, Vesna; Stoessl, A Jon; Priori, Alberto; Nishioka, Kenya; Hattori, Nobutaka; Follett, Jordan; Rajput, Alex; Blau, Nenad; Pezzoli, Gianni; Farrer, Matthew J; Goldwurm, Stefano; Rajput, Ali H; Duga, Stefano.

Ann Neurol; 82(4): 640-646, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28892570

11.

Newtonian to non-newtonian fluid transition of a model transient network.

Nava, Giovanni; Yang, Tie; Vitali, Valerio; Minzioni, Paolo; Cristiani, Ilaria; Bragheri, Francesca; Osellame, Roberto; Bethge, Lucas; Klussmann, Sven; Paraboschi, Elvezia Maria; Asselta, Rosanna; Bellini, Tommaso.

Soft Matter; 14(17): 3288-3295, 2018 May 02.

Artigo em Inglês | MEDLINE | ID: mdl-29691545

12.

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Thormaehlen, Aenne S; Schuberth, Christian; Won, Hong-Hee; Blattmann, Peter; Joggerst-Thomalla, Brigitte; Theiss, Susanne; Asselta, Rosanna; Duga, Stefano; Merlini, Pier Angelica; Ardissino, Diego; Lander, Eric S; Gabriel, Stacey; Rader, Daniel J; Peloso, Gina M; Pepperkok, Rainer; Kathiresan, Sekar; Runz, Heiko.

PLoS Genet; 11(2): e1004855, 2015 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-25647241

13.

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

Crosby, Jacy; Peloso, Gina M; Auer, Paul L; Crosslin, David R; Stitziel, Nathan O; Lange, Leslie A; Lu, Yingchang; Tang, Zheng-zheng; Zhang, He; Hindy, George; Masca, Nicholas; Stirrups, Kathleen; Kanoni, Stavroula; Do, Ron; Jun, Goo; Hu, Youna; Kang, Hyun Min; Xue, Chenyi; Goel, Anuj; Farrall, Martin; Duga, Stefano; Merlini, Pier Angelica; Asselta, Rosanna; Girelli, Domenico; Olivieri, Oliviero; Martinelli, Nicola; Yin, Wu; Reilly, Dermot; Speliotes, Elizabeth; Fox, Caroline S; Hveem, Kristian; Holmen, Oddgeir L; Nikpay, Majid; Farlow, Deborah N; Assimes, Themistocles L; Franceschini, Nora; Robinson, Jennifer; North, Kari E; Martin, Lisa W; DePristo, Mark; Gupta, Namrata; Escher, Stefan A; Jansson, Jan-Håkan; Van Zuydam, Natalie; Palmer, Colin N A; Wareham, Nicholas; Koch, Werner; Meitinger, Thomas; Peters, Annette; Lieb, Wolfgang.

N Engl J Med; 371(1): 22-31, 2014 Jul 03.

Artigo em Inglês | MEDLINE | ID: mdl-24941081

14.

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Stitziel, Nathan O; Won, Hong-Hee; Morrison, Alanna C; Peloso, Gina M; Do, Ron; Lange, Leslie A; Fontanillas, Pierre; Gupta, Namrata; Duga, Stefano; Goel, Anuj; Farrall, Martin; Saleheen, Danish; Ferrario, Paola; König, Inke; Asselta, Rosanna; Merlini, Piera A; Marziliano, Nicola; Notarangelo, Maria Francesca; Schick, Ursula; Auer, Paul; Assimes, Themistocles L; Reilly, Muredach; Wilensky, Robert; Rader, Daniel J; Hovingh, G Kees; Meitinger, Thomas; Kessler, Thorsten; Kastrati, Adnan; Laugwitz, Karl-Ludwig; Siscovick, David; Rotter, Jerome I; Hazen, Stanely L; Tracy, Russell; Cresci, Sharon; Spertus, John; Jackson, Rebecca; Schwartz, Stephen M; Natarajan, Pradeep; Crosby, Jacy; Muzny, Donna; Ballantyne, Christie; Rich, Stephen S; O'Donnell, Christopher J; Abecasis, Goncalo; Sunaev, Shamil; Nickerson, Deborah A; Buring, Julie E; Ridker, Paul M; Chasman, Daniel I; Austin, Erin.

N Engl J Med; 371(22): 2072-82, 2014 Nov 27.

Artigo em Inglês | MEDLINE | ID: mdl-25390462

15.

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Cilia, Roberto; Tunesi, Sara; Marotta, Giorgio; Cereda, Emanuele; Siri, Chiara; Tesei, Silvana; Zecchinelli, Anna L; Canesi, Margherita; Mariani, Claudio B; Meucci, Nicoletta; Sacilotto, Giorgio; Zini, Michela; Barichella, Michela; Magnani, Corrado; Duga, Stefano; Asselta, Rosanna; Soldà, Giulia; Seresini, Agostino; Seia, Manuela; Pezzoli, Gianni; Goldwurm, Stefano.

Ann Neurol; 80(5): 662-673, 2016 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-27632223

16.

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

Lee, Annie J; Wang, Yuanjia; Alcalay, Roy N; Mejia-Santana, Helen; Saunders-Pullman, Rachel; Bressman, Susan; Corvol, Jean-Christophe; Brice, Alexis; Lesage, Suzanne; Mangone, Graziella; Tolosa, Eduardo; Pont-Sunyer, Claustre; Vilas, Dolores; Schüle, Birgitt; Kausar, Farah; Foroud, Tatiana; Berg, Daniela; Brockmann, Kathrin; Goldwurm, Stefano; Siri, Chiara; Asselta, Rosanna; Ruiz-Martinez, Javier; Mondragón, Elisabet; Marras, Connie; Ghate, Taneera; Giladi, Nir; Mirelman, Anat; Marder, Karen.

Mov Disord; 32(10): 1432-1438, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28639421

17.

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

Paraboschi, Elvezia Maria; Cardamone, Giulia; Rimoldi, Valeria; Duga, Stefano; Soldà, Giulia; Asselta, Rosanna.

Biochim Biophys Acta Gen Subj; 1861(5 Pt A): 1046-1056, 2017 May.

Artigo em Inglês | MEDLINE | ID: mdl-28212793

18.

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.

Khera, Amit V; Won, Hong-Hee; Peloso, Gina M; O'Dushlaine, Colm; Liu, Dajiang; Stitziel, Nathan O; Natarajan, Pradeep; Nomura, Akihiro; Emdin, Connor A; Gupta, Namrata; Borecki, Ingrid B; Asselta, Rosanna; Duga, Stefano; Merlini, Piera Angelica; Correa, Adolfo; Kessler, Thorsten; Wilson, James G; Bown, Matthew J; Hall, Alistair S; Braund, Peter S; Carey, David J; Murray, Michael F; Kirchner, H Lester; Leader, Joseph B; Lavage, Daniel R; Manus, J Neil; Hartzel, Dustin N; Samani, Nilesh J; Schunkert, Heribert; Marrugat, Jaume; Elosua, Roberto; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Lander, Eric S; Rader, Daniel J; Danesh, John; Ardissino, Diego; Gabriel, Stacey; Willer, Cristen; Abecasis, Gonçalo R; Saleheen, Danish; Dewey, Frederick E; Kathiresan, Sekar.

JAMA; 317(9): 937-946, 2017 03 07.

Artigo em Inglês | MEDLINE | ID: mdl-28267856

19.

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bß, and Î³ Chains.

Paraboschi, Elvezia Maria; Duga, Stefano; Asselta, Rosanna.

Int J Mol Sci; 18(12)2017 Dec 14.

Artigo em Inglês | MEDLINE | ID: mdl-29240685

20.

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

Cardamone, Giulia; Paraboschi, Elvezia Maria; Rimoldi, Valeria; Duga, Stefano; Soldà, Giulia; Asselta, Rosanna.

Int J Mol Sci; 18(3)2017 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-28272342

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