Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 23

Results: 24

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 23, p. NP, doi. 10.1093/hmg/ddr518
Publication type:: Article

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4634, doi. 10.1093/hmg/ddr397

By:

Sasarman, Florin;
Antonicka, Hana;
Horvath, Rita;
Shoubridge, Eric A.

Publication type:

Article

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4693

By:

Figueroa, Jonine D.;
Garcia-Closas, Montserrat;
Humphreys, Manjeet;
Platte, Radka;
Hopper, John L.;
Southey, Melissa C.;
Apicella, Carmel;
Hammet, Fleur;
Schmidt, Marjanka K.;
Broeks, Annegien;
Tollenaar, Rob A.E.M.;
Van't Veer, Laura J.;
Fasching, Peter A.;
Beckmann, Matthias W.;
Ekici, Arif B.;
Strick, Reiner;
Peto, Julian;
dos Santos Silva, Isabel;
Fletcher, Olivia;
Johnson, Nichola

Publication type:

Article

Mitochondrial respiratory complex I dysfunction promotes tumorigenesis through ROS alteration and AKT activation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4605, doi. 10.1093/hmg/ddr395

By:

Sharma, Lokendra Kumar;
Fang, Hezhi;
Liu, Jiangtao;
Vartak, Rasika;
Deng, Janice;
Bai, Yidong

Publication type:

Article

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4644, doi. 10.1093/hmg/ddr398

By:

Lancioni, Alessio;
Luisa Rotundo, Ida;
Monique Kobayashi, Yvonne;
D'Orsi, Luca;
Aurino, Stefania;
Nigro, Gerardo;
Piluso, Giulio;
Acampora, Dario;
Cacciottolo, Mafalda;
Campbell, Kevin P.;
Nigro, Vincenzo

Publication type:

Article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4707, doi. 10.1093/hmg/ddr382

By:

Wiggs, Janey L.;
Hee Kang, Jae;
Yaspan, Brian L.;
Mirel, Daniel B.;
Laurie, Cathy;
Crenshaw, Andrew;
Brodeur, Wendy;
Gogarten, Stephanie;
Olson, Lana M.;
Abdrabou, Wael;
DelBono, Elizabeth;
Loomis, Stephanie;
Haines, Jonathan L.;
Pasquale, Louis R.

Publication type:

Article

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4582, doi. 10.1093/hmg/ddr392

By:

Li, Deqiang;
Liu, Ying;
Maruyama, Mitsunori;
Zhu, Wuqiang;
Chen, Hanying;
Zhang, Wenjun;
Reuter, Sean;
Lin, Shien-Fong;
Haneline, Laura S.;
Field, Loren J.;
Chen, Peng-Sheng;
Shou, Weinian

Publication type:

Article

Genome-wide association study of circulating retinol levels.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4724, doi. 10.1093/hmg/ddr387

By:

Mondul, Alison M.;
Yu, Kai;
Wheeler, William;
Zhang, Hong;
Weinstein, Stephanie J.;
Major, Jacqueline M.;
Cornelis, Marilyn C.;
Männistö, Satu;
Hazra, Aditi;
Hsing, Ann W.;
Jacobs, Kevin B.;
Eliassen, Heather;
Tanaka, Toshiko;
Reding, Douglas J.;
Hendrickson, Sara;
Ferrucci, Luigi;
Virtamo, Jarmo;
Hunter, David J.;
Chanock, Stephen J.;
Kraft, Peter

Publication type:

Article

KDM6B/JMJD3 histone demethylase is induced by vitamin D and modulates its effects in colon cancer cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4655, doi. 10.1093/hmg/ddr399

By:

Pereira, Fábio;
Barbáchano, Antonio;
Silva, Javier;
Bonilla, Félix;
Campbell, Moray J.;
Muñoz, Alberto;
Larriba, María Jesús

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 23, p. NP, doi. 10.1093/hmg/ddr519
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 23, p. NP, doi. 10.1093/hmg/ddr517
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 23, p. NP, doi. 10.1093/hmg/ddr516
Publication type:: Article

A valid mouse model of AGRIN-associated congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4617, doi. 10.1093/hmg/ddr396

By:

Bogdanik, Laurent P.;
Burgess, Robert W.

Publication type:

Article

Behavioral alterations associated with targeted disruption of exons 2 and 3 of the Disc1 gene in the mouse.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4666, doi. 10.1093/hmg/ddr400

By:

Kuroda, Keisuke;
Yamada, Shinnosuke;
Tanaka, Motoki;
Iizuka, Michiro;
Yano, Hisashi;
Mori, Daisuke;
Tsuboi, Daisuke;
Nishioka, Tomoki;
Namba, Takashi;
Iizuka, Yukihiko;
Kubota, Shimpei;
Nagai, Taku;
Ibi, Daisuke;
Wang, Rui;
Enomoto, Atsushi;
Isotani-Sakakibara, Mayu;
Asai, Naoya;
Kimura, Kazushi;
Kiyonari, Hiroshi;
Abe, Takaya

Publication type:

Article

Genome-wide association study of HPV seropositivity.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4714, doi. 10.1093/hmg/ddr383

By:

Chen, Dan;
McKay, James D.;
Clifford, Gary;
Gaborieau, Valérie;
Chabrier, Amélie;
Waterboer, Tim;
Zaridze, David;
Lissowska, Jolanta;
Rudnai, Peter;
Fabianova, Eleonora;
Bencko, Vladimir;
Janout, Vladimir;
Foretova, Lenka;
Mates, Ioan Nicolae;
Szeszenia-Dabrowska, Neonila;
Curado, Maria Paula;
Koifman, Sergio;
Menezes, Ana;
Wünsch-Filho, Victor;
Eluf-Neto, José

Publication type:

Article

Modeling familial Alzheimer's disease with induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4530, doi. 10.1093/hmg/ddr394

By:

Yagi, Takuya;
Ito, Daisuke;
Okada, Yohei;
Akamatsu, Wado;
Nihei, Yoshihiro;
Yoshizaki, Takahito;
Yamanaka, Shinya;
Okano, Hideyuki;
Suzuki, Norihiro

Publication type:

Article

A conserved splicing mechanism of the LMNA gene controls premature aging.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4540, doi. 10.1093/hmg/ddr385

By:

Lopez-Mejia, Isabel C.;
Vautrot, Valentin;
De Toledo, Marion;
Behm-Ansmant, Isabelle;
Bourgeois, Cyril F.;
Navarro, Claire L.;
Osorio, Fernando G.;
Freije, José M. P.;
Stévenin, James;
De Sandre-Giovannoli, Annachiara;
Lopez-Otin, Carlos;
Lévy, Nicolas;
Branlant, Christiane;
Tazi, Jamal

Publication type:

Article

A synonymous polymorphism of the Tristetraprolin (TTP) gene, an AU-rich mRNA-binding protein, affects translation efficiency and response to Herceptin treatment in breast cancer patients.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4556, doi. 10.1093/hmg/ddr390

By:

Griseri, Paola;
Bourcier, Christine;
Hieblot, Corinne;
Essafi-Benkhadir, Khadija;
Chamorey, Emmanuel;
Touriol, Christian;
Pagès, Gilles

Publication type:

Article

Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4569, doi. 10.1093/hmg/ddr391

By:

Ku, Cristy A.;
Chiodo, Vince A.;
Boye, Sanford L.;
Goldberg, Andrew F.X.;
Li, Tiansen;
Hauswirth, William W.;
Ramamurthy, Visvanathan

Publication type:

Article

A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4748, doi. 10.1093/hmg/ddr389

By:

Sampietro, M. Lourdes;
Trompet, Stella;
Verschuren, Jeffrey J.W.;
Talens, Rudolf P.;
Deelen, Joris;
Heijmans, Bastiaan T.;
de Winter, Robbert J.;
Tio, Rene A.;
Doevendans, Pieter A.F.M.;
Ganesh, Santhi K.;
Nabel, Elizabeth G.;
Westra, Harm-Jan;
Franke, Lude;
van den Akker, Erik B.;
Westendorp, Rudi G.J.;
Zwinderman, Aeilko H.;
Kastrati, Adnan;
Koch, Werner;
Slagboom, P.Eline;
de Knijff, Peter

Publication type:

Article

Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4515, doi. 10.1093/hmg/ddr381

By:

Calkins, Marcus J.;
Manczak, Maria;
Mao, Peizhong;
Shirendeb, Ulziibat;
Reddy, P. Hemachandra

Publication type:

Article

Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4597, doi. 10.1093/hmg/ddr393

By:

Anderl, Stefanie;
Freeland, Megan;
Kwiatkowski, David J.;
Goto, June

Publication type:

Article

Normal mammalian cells negatively regulate telomere length by telomere trimming.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4684, doi. 10.1093/hmg/ddr402

By:

Pickett, Hilda A.;
Henson, Jeremy D.;
Au, Amy Y.M.;
Neumann, Axel A.;
Reddel, Roger R.

Publication type:

Article

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4732

By:

Cox, David G.;
Simard, Jacques;
Sinnett, Daniel;
Hamdi, Yosr;
Soucy, Penny;
Ouimet, Manon;
Barjhoux, Laure;
Verny-Pierre, Carole;
McGuffog, Lesley;
Healey, Sue;
Szabo, Csilla;
Greene, Mark H.;
Mai, Phuong L.;
Andrulis, Irene L.;
Thomassen, Mads;
Gerdes, Anne-Marie;
Caligo, Maria A.;
Friedman, Eitan;
Laitman, Yael;
Kaufman, Bella

Publication type:

Article