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1.

Obesity-associated variants within FTO form long-range functional connections with IRX3.

Smemo, Scott; Tena, Juan J; Kim, Kyoung-Han; Gamazon, Eric R; Sakabe, Noboru J; Gómez-Marín, Carlos; Aneas, Ivy; Credidio, Flavia L; Sobreira, Débora R; Wasserman, Nora F; Lee, Ju Hee; Puviindran, Vijitha; Tam, Davis; Shen, Michael; Son, Joe Eun; Vakili, Niki Alizadeh; Sung, Hoon-Ki; Naranjo, Silvia; Acemel, Rafael D; Manzanares, Miguel; Nagy, Andras; Cox, Nancy J; Hui, Chi-Chung; Gomez-Skarmeta, Jose Luis; Nóbrega, Marcelo A.

Nature; 507(7492): 371-5, 2014 Mar 20.

Artículo en Inglés | MEDLINE | ID: mdl-24646999

2.

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Yang, Jin; Bassuk, Alexander G; Merl-Pham, Juliane; Hsu, Chun-Wei; Colgan, Diana F; Li, Xiaorong; Au, Kit Sing; Zhang, Lijuan; Smemo, Scott; Justus, Sally; Nagahama, Yasunori; Grossbach, Andrew J; Howard, Matthew A; Kawasaki, Hiroto; Feldstein, Neil A; Dobyns, William B; Northrup, Hope; Hauck, Stefanie M; Ueffing, Marius; Mahajan, Vinit B; Tsang, Stephen H.

Hum Mol Genet; 25(19): 4201-4210, 2016 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-27516388

3.

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

Smemo, Scott; Campos, Luciene C; Moskowitz, Ivan P; Krieger, José E; Pereira, Alexandre C; Nobrega, Marcelo A.

Hum Mol Genet; 21(14): 3255-63, 2012 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-22543974

4.

Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease.

Busby, Victoria; Goossens, Steven; Nowotny, Petra; Hamilton, Gillian; Smemo, Scott; Harold, Denise; Turic, Dragana; Jehu, Luke; Myers, Amanda; Womick, Meredith; Woo, Daniel; Compton, Danielle; Doil, Lisa M; Tacey, Kristina M; Lau, Kit F; Al-Saraj, Safa; Killick, Richard; Pickering-Brown, Stuart; Moore, Pamela; Hollingworth, Paul; Archer, Nicola; Foy, Catherine; Walter, Sarah; Lendon, Corrine; Iwatsubo, Takeshi; Morris, John C; Norton, Joanne; Mann, David; Janssens, Barbara; Hardy, John; O'Donovan, Michael; Jones, Lesley; Williams, Julie; Holmans, Peter; Owen, Michael J; Grupe, Andrew; Powell, John; van Hengel, Jolanda; Goate, Alison; Van Roy, Frans; Lovestone, Simon.

Neuromolecular Med; 5(2): 133-46, 2004.

Artículo en Inglés | MEDLINE | ID: mdl-15075440

5.

A common genetic variant within SCN10A modulates cardiac SCN5A expression.

van den Boogaard, Malou; Smemo, Scott; Burnicka-Turek, Ozanna; Arnolds, David E; van de Werken, Harmen J G; Klous, Petra; McKean, David; Muehlschlegel, Jochen D; Moosmann, Julia; Toka, Okan; Yang, Xinan H; Koopmann, Tamara T; Adriaens, Michiel E; Bezzina, Connie R; de Laat, Wouter; Seidman, Christine; Seidman, J G; Christoffels, Vincent M; Nobrega, Marcelo A; Barnett, Phil; Moskowitz, Ivan P.

J Clin Invest; 124(4): 1844-52, 2014 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-24642470

6.

FTO-mediated formation of N6-hydroxymethyladenosine and N6-formyladenosine in mammalian RNA.

Fu, Ye; Jia, Guifang; Pang, Xueqin; Wang, Richard N; Wang, Xiao; Li, Charles J; Smemo, Scott; Dai, Qing; Bailey, Kathleen A; Nobrega, Marcelo A; Han, Ke-Li; Cui, Qiang; He, Chuan.

Nat Commun; 4: 1798, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23653210

7.

TBX5 drives Scn5a expression to regulate cardiac conduction system function.

Arnolds, David E; Liu, Fang; Fahrenbach, John P; Kim, Gene H; Schillinger, Kurt J; Smemo, Scott; McNally, Elizabeth M; Nobrega, Marcelo A; Patel, Vickas V; Moskowitz, Ivan P.

J Clin Invest; 122(7): 2509-18, 2012 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-22728936

8.

Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function.

Shen, Tao; Aneas, Ivy; Sakabe, Noboru; Dirschinger, Ralf J; Wang, Gang; Smemo, Scott; Westlund, John M; Cheng, Hongqiang; Dalton, Nancy; Gu, Yusu; Boogerd, Cornelis J; Cai, Chen-leng; Peterson, Kirk; Chen, Ju; Nobrega, Marcelo A; Evans, Sylvia M.

J Clin Invest; 121(12): 4640-54, 2011 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-22080862

9.

Redundancy in genotyping arrays.

Smemo, Scott; Borevitz, Justin O.

PLoS One; 2(3): e287, 2007 Mar 14.

Artículo en Inglés | MEDLINE | ID: mdl-17356697

10.

Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP).

Nowotny, Petra; Simcock, Xavier; Bertelsen, Sarah; Hinrichs, Anthony L; Kauwe, John S K; Mayo, Kevin; Smemo, Scott; Morris, John C; Goate, Alison.

Am J Med Genet B Neuropsychiatr Genet; 144B(4): 469-74, 2007 Jun 05.

Artículo en Inglés | MEDLINE | ID: mdl-17427190

11.

Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.

Wahrle, Suzanne E; Shah, Aarti R; Fagan, Anne M; Smemo, Scott; Kauwe, John S K; Grupe, Andrew; Hinrichs, Anthony; Mayo, Kevin; Jiang, Hong; Thal, Leon J; Goate, Alison M; Holtzman, David M.

Mol Neurodegener; 2: 7, 2007 Apr 12.

Artículo en Inglés | MEDLINE | ID: mdl-17430597

12.

Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.

Smemo, Scott; Nowotny, Petra; Hinrichs, Anthony L; Kauwe, John S K; Cherny, Sara; Erickson, Katherine; Myers, Amanda J; Kaleem, Mona; Marlowe, Lauren; Gibson, Alison M; Hollingworth, Paul; O'Donovan, Michael C; Morris, Chris M; Holmans, Peter; Lovestone, Simon; Morris, John C; Thal, Leon; Li, Yonghong; Grupe, Andrew; Hardy, John; Owen, Michael J; Williams, Julie; Goate, Alison.

Ann Neurol; 59(1): 21-6, 2006 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-16278862

13.

DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.

Li, Yonghong; Grupe, Andrew; Rowland, Charles; Nowotny, Petra; Kauwe, John S K; Smemo, Scott; Hinrichs, Anthony; Tacey, Kristina; Toombs, Timothy A; Kwok, Shirley; Catanese, Joseph; White, Thomas J; Maxwell, Taylor J; Hollingworth, Paul; Abraham, Richard; Rubinsztein, David C; Brayne, Carol; Wavrant-De Vrièze, Fabienne; Hardy, John; O'Donovan, Michael; Lovestone, Simon; Morris, John C; Thal, Leon J; Owen, Michael; Williams, Julie; Goate, Alison.

Hum Mol Genet; 15(17): 2560-8, 2006 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-16847012

14.

A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

Grupe, Andrew; Li, Yonghong; Rowland, Charles; Nowotny, Petra; Hinrichs, Anthony L; Smemo, Scott; Kauwe, John S K; Maxwell, Taylor J; Cherny, Sara; Doil, Lisa; Tacey, Kristina; van Luchene, Ryan; Myers, Amanda; Wavrant-De Vrièze, Fabienne; Kaleem, Mona; Hollingworth, Paul; Jehu, Luke; Foy, Catherine; Archer, Nicola; Hamilton, Gillian; Holmans, Peter; Morris, Chris M; Catanese, Joseph; Sninsky, John; White, Thomas J; Powell, John; Hardy, John; O'Donovan, Michael; Lovestone, Simon; Jones, Lesley; Morris, John C; Thal, Leon; Owen, Michael; Williams, Julie; Goate, Alison.

Am J Hum Genet; 78(1): 78-88, 2006 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-16385451

15.

Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme.

Nowotny, Petra; Hinrichs, Anthony L; Smemo, Scott; Kauwe, John S K; Maxwell, Taylor; Holmans, Peter; Hamshere, Marian; Turic, Dragana; Jehu, Luke; Hollingworth, Paul; Moore, Pamela; Bryden, Leslie; Myers, Amanda; Doil, Lisa M; Tacey, Kristina M; Gibson, Alison M; McKeith, Ian G; Perry, Robert H; Morris, Chris M; Thal, Leon; Morris, John C; O'Donovan, Michael C; Lovestone, Simon; Grupe, Andrew; Hardy, John; Owen, Michael J; Williams, Julie; Goate, Alison.

Am J Med Genet B Neuropsychiatr Genet; 136B(1): 62-8, 2005 Jul 05.

Artículo en Inglés | MEDLINE | ID: mdl-15858813

16.

Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD.

Myers, Amanda J; Marshall, Helen; Holmans, Peter; Compton, Danielle; Crook, Richard J P; Mander, Adrian P; Nowotny, Petra; Smemo, Scott; Dunstan, Melanie; Jehu, Luke; Wang, Jen C; Hamshere, Marian; Morris, John C; Norton, Joanne; Chakraventy, Sumi; Tunstall, Nigel; Lovestone, Simon; Petersen, Ronald; O'Donovan, Michael; Jones, Lesley; Williams, Julie; Owen, Michael J; Hardy, John; Goate, Alison.

Am J Med Genet B Neuropsychiatr Genet; 124B(1): 29-37, 2004 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-14681909

17.

Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family.

Li, Yonghong; Nowotny, Petra; Holmans, Peter; Smemo, Scott; Kauwe, John S K; Hinrichs, Anthony L; Tacey, Kristina; Doil, Lisa; van Luchene, Ryan; Garcia, Veronica; Rowland, Charles; Schrodi, Steve; Leong, Diane; Gogic, Goran; Chan, Joanne; Cravchik, Anibal; Ross, David; Lau, Kit; Kwok, Shirley; Chang, Sheng-Yung; Catanese, Joe; Sninsky, John; White, Thomas J; Hardy, John; Powell, John; Lovestone, Simon; Morris, John C; Thal, Leon; Owen, Michael; Williams, Julie; Goate, Alison; Grupe, Andrew.

Proc Natl Acad Sci U S A; 101(44): 15688-93, 2004 Nov 02.

Artículo en Inglés | MEDLINE | ID: mdl-15507493

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