Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 3

Results: 26

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 749, doi. 10.1093/hmg/ddt460

By:

Dols-Icardo, Oriol;
García-Redondo, Alberto;
Rojas-García, Ricard;
Sánchez-Valle, Raquel;
Noguera, Aina;
Gómez-Tortosa, Estrella;
Pastor, Pau;
Hernández, Isabel;
Esteban-Pérez, Jesús;
Suárez-Calvet, Marc;
Antón-Aguirre, Sofía;
Amer, Guillermo;
Ortega-Cubero, Sara;
Blesa, Rafael;
Fortea, Juan;
Alcolea, Daniel;
Capdevila, Aura;
Antonell, Anna;
Lladó, Albert;
Muñoz-Blanco, José Luís

Publication type:

Article

Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 796, doi. 10.1093/hmg/ddt462

By:

Chimusa, Emile R.;
Zaitlen, Noah;
Daya, Michelle;
Möller, Marlo;
van Helden, Paul D.;
Mulder, Nicola J.;
Price, Alkes L.;
Hoal, Eileen G.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 3, p. NP, doi. 10.1093/hmg/ddu017
Publication type:: Article

Genetic comorbidities in Parkinson's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 831

By:

Nalls, Mike A.;
Saad, Mohamad;
Noyce, Alastair J.;
Keller, Margaux F.;
Schrag, Anette;
Bestwick, Jonathan P.;
Traynor, Bryan J.;
Gibbs, J. Raphael;
Hernandez, Dena G.;
Cookson, Mark R.;
Morris, Huw R.;
Williams, Nigel;
Gasser, Thomas;
Heutink, Peter;
Wood, Nick;
Hardy, John;
Martinez, Maria;
Singleton, Andrew B.

Publication type:

Article

Altered CpG methylation in sporadic Alzheimer's disease is associated with APP and MAPT dysregulation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 648, doi. 10.1093/hmg/ddt451

By:

Iwata, Atsushi;
Nagata, Kenichi;
Hatsuta, Hiroyuki;
Takuma, Hiroshi;
Bundo, Miki;
Iwamoto, Kazuya;
Tamaoka, Akira;
Murayama, Shigeo;
Saido, Takaomi;
Tsuji, Shoji

Publication type:

Article

Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 820, doi. 10.1093/hmg/ddt464

By:

Pei, Yu-Fang;
Zhang, Lei;
Liu, Yongjun;
Li, Jian;
Shen, Hui;
Liu, Yao-Zhong;
Tian, Qing;
He, Hao;
Wu, Shuyan;
Ran, Shu;
Han, Yingying;
Hai, Rong;
Lin, Yong;
Zhu, Jingying;
Zhu, Xue-Zhen;
Papasian, Christopher J.;
Deng, Hong-Wen

Publication type:

Article

Reversibility of neuropathology in Tay–Sachs-related diseases.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 730

By:

Cachón-González, María-Begoña;
Wang, Susan Z.;
Ziegler, Robin;
Cheng, Seng H.;
Cox, Timothy M.

Publication type:

Article

Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 590, doi. 10.1093/hmg/ddt447

By:

Meissner, Barbara;
Bartram, Thies;
Eckert, Cornelia;
Trka, Jan;
Panzer-Grümayer, Renate;
Hermanova, Ivana;
Ellinghaus, Eva;
Franke, Andre;
Möricke, Anja;
Schrauder, André;
Teigler-Schlegel, Andrea;
Dörge, Petra;
von Stackelberg, Arend;
Basso, Giuseppe;
Bartram, Claus R.;
Kirschner-Schwabe, Renate;
Bornhäuser, Beat;
Bourquin, Jean-Pierre;
Cazzaniga, Giovanni;
Hauer, Julia

Publication type:

Article

Dynamic changes in DNA methylation and hydroxymethylation when hES cells undergo differentiation toward a neuronal lineage.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 657, doi. 10.1093/hmg/ddt453

By:

Kim, Mirang;
Park, Young-Kyu;
Kang, Tae-Wook;
Lee, Sang-Hun;
Rhee, Yong-Hee;
Park, Jong-Lyul;
Kim, Hee-Jin;
Lee, Daeyoup;
Lee, Doheon;
Kim, Seon-Young;
Kim, Yong Sung

Publication type:

Article

The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 563, doi. 10.1093/hmg/ddt445

By:

Jerber, Julie;
Baas, Dominique;
Soulavie, Fabien;
Chhin, Brigitte;
Cortier, Elisabeth;
Vesque, Christine;
Thomas, Joëlle;
Durand, Bénédicte

Publication type:

Article

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 682, doi. 10.1093/hmg/ddt455

By:

Goodwin, Alice F.;
Tidyman, William E.;
Jheon, Andrew H.;
Sharir, Amnon;
Zheng, Xu;
Charles, Cyril;
Fagin, James A.;
McMahon, Martin;
Diekwisch, Thomas G.H.;
Ganss, Bernhard;
Rauen, Katherine A.;
Klein, Ophir D.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 3, p. NP, doi. 10.1093/hmg/ddu016
Publication type:: Article

Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 782, doi. 10.1093/hmg/ddt461

By:

Zhang, Xiaoling;
Johnson, Andrew D.;
Hendricks, Audrey E.;
Hwang, Shih-Jen;
Tanriverdi, Kahraman;
Ganesh, Santhi K.;
Smith, Nicholas L.;
Peyser, Patricia A.;
Freedman, Jane E.;
O'Donnell, Christopher J.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 3, p. NP, doi. 10.1093/hmg/ddu018
Publication type:: Article

Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 637, doi. 10.1093/hmg/ddt450

By:

Dai, Ying;
Zheng, Kangni;
Clark, Joanne;
Swerdlow, Russell H.;
Pulst, Stefan M.;
Sutton, James P.;
Shinobu, Leslie A.;
Simon, David K.

Publication type:

Article

NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 706, doi. 10.1093/hmg/ddt457

By:

Mahadevan, Sangeetha;
Wen, Shu;
Wan, Ying-Wooi;
Peng, Hsiu-Huei;
Otta, Subhendu;
Liu, Zhandong;
Iacovino, Michelina;
Mahen, Elisabeth M.;
Kyba, Michael;
Sadikovic, Bekim;
Van den Veyver, Ignatia B.

Publication type:

Article

Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 618, doi. 10.1093/hmg/ddt449

By:

D'Arcy, Colleen E.;
Feeney, Sandra J.;
McLean, Catriona A.;
Gehrig, Stefan M.;
Lynch, Gordon S.;
Smith, Jaclyn E.;
Cowling, Belinda S.;
Mitchell, Christina A.;
McGrath, Meagan J.

Publication type:

Article

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 810, doi. 10.1093/hmg/ddt463

By:

Haller, Gabe;
Kapoor, Manav;
Budde, John;
Xuei, Xiaoling;
Edenberg, Howard;
Nurnberger, John;
Kramer, John;
Brooks, Andy;
Tischfield, Jay;
Almasy, Laura;
Agrawal, Arpana;
Bucholz, Kathleen;
Rice, John;
Saccone, Nancy;
Bierut, Laura;
Goate, Alison

Publication type:

Article

Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 767, doi. 10.1093/hmg/ddt467

By:

Casadei, Nicolas;
Pöhler, Anne-Maria;
Tomás-Zapico, Cristina;
Torres-Peraza, Jesús;
Schwedhelm, Ivo;
Witz, Annemarie;
Zamolo, Irina;
De Heer, Raymond;
Spruijt, Berry;
Noldus, Lucas P.J.J.;
Klucken, Jochen;
Lucas, José J.;
Kahle, Philipp J.;
Krüger, Rejko;
Riess, Olaf;
Nuber, Silke

Publication type:

Article

Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 602, doi. 10.1093/hmg/ddt448

By:

Newman, Morgan;
Wilson, Lachlan;
Verdile, Giuseppe;
Lim, Anne;
Khan, Imran;
Moussavi Nik, Seyyed Hani;
Pursglove, Sharon;
Chapman, Gavin;
Martins, Ralph N.;
Lardelli, Michael

Publication type:

Article

Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 668, doi. 10.1093/hmg/ddt454

By:

Wang, Hongyan;
Yang, Bin;
Qiu, Linghua;
Yang, Chunxing;
Kramer, Joshua;
Su, Qin;
Guo, Yansu;
Brown, Robert H.;
Gao, Guangping;
Xu, Zuoshang

Publication type:

Article

Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 578, doi. 10.1093/hmg/ddt446

By:

Zhang, Li;
Meng, Kai;
Jiang, Xiaoling;
Liu, Chunhong;
Pao, Annie;
Belichenko, Pavel V.;
Kleschevnikov, Alexander M.;
Josselyn, Sheena;
Liang, Ping;
Ye, Ping;
Mobley, William C.;
Yu, Y. Eugene

Publication type:

Article

Tsc1 deficiency-mediated mTOR hyperactivation in vascular endothelial cells causes angiogenesis defects and embryonic lethality.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 693, doi. 10.1093/hmg/ddt456

By:

Ma, Aiping;
Wang, Lianmei;
Gao, Yunzhou;
Chang, Zai;
Peng, Haiyong;
Zeng, Ni;
Gui, Yao-Song;
Tian, Xinlun;
Li, Xue;
Cai, Baiqiang;
Zhang, Hongbing;
Xu, Kai-Feng

Publication type:

Article

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 717, doi. 10.1093/hmg/ddt458

By:

Ehrnhoefer, Dagmar E.;
Skotte, Niels H.;
Ladha, Safia;
Nguyen, Yen T.N.;
Qiu, Xiaofan;
Deng, Yu;
Huynh, Khuong T.;
Engemann, Sabine;
Nielsen, Signe M.;
Becanovic, Kristina;
Leavitt, Blair R.;
Hasholt, Lis;
Hayden, Michael R.

Publication type:

Article

DJ-1 modulates aggregation and pathogenesis in models of Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 755, doi. 10.1093/hmg/ddt466

By:

Sajjad, Muhammad U.;
Green, Edward W.;
Miller-Fleming, Leonor;
Hands, Sarah;
Herrera, Federico;
Campesan, Susanna;
Khoshnan, Ali;
Outeiro, Tiago F.;
Giorgini, Flaviano;
Wyttenbach, Andreas

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 3, p. NP, doi. 10.1093/hmg/ddu015
Publication type:: Article