Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 1

Results: 27

Tau hyperphosphorylation and deregulation of calcineurin in mouse models of Huntington’s disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 86, doi. 10.1093/hmg/ddu456

By:

Gratuze, Maud;
Noël, Anastasia;
Julien, Carl;
Cisbani, Giulia;
Milot-Rousseau, Philippe;
Morin, Françoise;
Dickler, Maya;
Goupil, Claudia;
Bezeau, François;
Poitras, Isabelle;
Bissonnette, Stéphanie;
Whittington, Robert A.;
Hébert, Sébastien S.;
Cicchetti, Francesca;
Parker, J. Alex;
Samadi, Pershia;
Planel, Emmanuel

Publication type:

Article

Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 274, doi. 10.1093/hmg/ddu429

By:

Yan Zhang;
Jing Zhang;
Jing Yang;
Yongfei Wang;
Lu Zhang;
Xianbo Zuo;
Liangdan Sun;
Hai-Feng Pan;
Hirankarn, Nattiya;
Tingyou Wang;
Ruoyan Chen;
Dingge Ying;
Shuai Zeng;
Shen, Jiangshan Jane;
Tsz Leung Lee;
Chak Sing Lau;
Tak Mao Chan;
Ho Leung, Alexander Moon;
Chi Chiu Mok;
Sik Nin Wong

Publication type:

Article

The severity of retinal pathology in homozygous Crb1<sup>rd8/rd8</sup> mice is dependent on additional genetic factors

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 128, doi. 10.1093/hmg/ddu424

By:

Luhmann, Ulrich F.O.;
Carvalho, Livia S.;
kleine Holthaus, Sophia-Martha;
Cowing, Jill A.;
Greenaway, Simon;
Chu, Colin J.;
Herrmann, Philipp;
Smith, Alexander J.;
Munro, Peter M.G.;
Potter, Paul;
Bainbridge, James W.B.;
Ali, Robin R.

Publication type:

Article

The ROS-sensitive microRNA-9/9∗ controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 167, doi. 10.1093/hmg/ddu427

By:

Meseguer, Salvador;
Martínez-Zamora, Ana;
García-Arumí, Elena;
Andreu, Antonio L.;
Armengod, M.-Eugenia

Publication type:

Article

Susceptibility allele-specific loss of miR-1324- mediated silencing of the INO80B chromatin- assembly complex gene in pre-eclampsia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 118, doi. 10.1093/hmg/ddu423

By:

Oudejans, Cees B. M.;
Michel, Omar J.;
Janssen, Rob;
Habets, Rob;
Poutsma, Ankie;
Sistermans, Erik A.;
Weiss, Marjan M.;
Incarnato, Danny;
Oliviero, Salvatore;
Kleiverda, Gunilla;
Van Dijk, Marie;
Arngrímsson, Reynir

Publication type:

Article

itochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot–Marie–Tooth neuropathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 21, doi. 10.1093/hmg/ddu416

By:

Del Amo, Víctor López;
Seco-Cervera, Marta;
García-Giménez, José Luís;
Whitworth, Alexander J.;
Pallardó, Federico V.;
Galindo, Máximo Ibo

Publication type:

Article

TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 9, doi. 10.1093/hmg/ddu415

By:

Budini, Mauricio;
Romano, Valentina;
Quadri, Zainuddin;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

The Drosophila Huntington’s disease gene ortholog dhtt influences chromatin regulation during development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 330, doi. 10.1093/hmg/ddu446

By:

Dietz, Kevin N.;
Di Stefano, Luisa;
Maher, Robert C.;
Hui Zhu;
Macdonald, Marcy E.;
Gusella, James F.;
Walker, James A.

Publication type:

Article

Mutant huntingtin alters Tau phosphorylation and subcellular distribution.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 76, doi. 10.1093/hmg/ddu421

By:

Blum, David;
Herrera, Federico;
Francelle, Laetitia;
Mendes, Tiago;
Basquin, Marie;
Obriot, Hélène;
Demeyer, Dominique;
Sergeant, Nicolas;
Gerhardt, Ellen;
Brouillet, Emmanuel;
Buée, Luc;
Outeiro, Tiago F.

Publication type:

Article

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 100, doi. 10.1093/hmg/ddu422

By:

Neves-Carvalho, Andreia;
Logarinho, Elsa;
Freitas, Ana;
Duarte-Silva, Sara;
do Carmo Costa, Maria;
Silva-Fernandes, Anabela;
Martins, Margarida;
Serra, Sofia Cravino;
Lopes, André T.;
Paulson, Henry L.;
Heutink, Peter;
Relvas, João B.;
Maciel, Patrícia

Publication type:

Article

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 285, doi. 10.1093/hmg/ddu431

By:

Wei-Yu Lin;
Camp, Nicola J.;
Ghoussaini, Maya;
Beesley, Jonathan;
Michailidou, Kyriaki;
Hopper, John L.;
Apicella, Carmel;
Southey, Melissa C.;
Stone, Jennifer;
Schmidt, Marjanka K.;
Broeks, Annegien;
Van’t Veer, Laura J.;
Th. Rutgers, Emiel J.;
Muir, Kenneth;
Lophatananon, Artitaya;
Stewart-Brown, Sarah;
Siriwanarangsan, Pornthep;
Fasching, Peter A.;
Haeberle, Lothar;
Ekici, Arif B.

Publication type:

Article

Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 213, doi. 10.1093/hmg/ddu440

By:

Pla-Martín, David;
Calpena, Eduardo;
Lupo, Vincenzo;
Márquez, Celedonio;
Rivas, Eloy;
Sivera, Rafael;
Sevilla, Teresa;
Palau, Francesc;
Espinós, Carmen

Publication type:

Article

The novel Cln1<sup>R151X</sup> mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 185, doi. 10.1093/hmg/ddu428

By:

Miller, Jake N.;
Kovács, Attila D.;
Pearce, David A.

Publication type:

Article

Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 154, doi. 10.1093/hmg/ddu426

By:

Meijun Du;
Tiezheng Yuan;
Schilter, Kala F.;
Dittmar, Rachel L.;
Mackinnon, Alexander;
Xiaoyi Huang;
Tschannen, Michael;
Worthey, Elizabeth;
Jacob, Howard;
Shu Xia;
Jianzhong Gao;
Tillmans, Lori;
Yan Lu;
Pengyuan Liu;
Thibodeau, Stephen N.;
Liang Wang

Publication type:

Article

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 230, doi. 10.1093/hmg/ddu441

By:

Bujakowska, Kinga M.;
Qi Zhang;
Siemiatkowska, Anna M.;
Qin Liu;
Place, Emily;
Falk, Marni J.;
Consugar, Mark;
Lancelot, Marie-Elise;
Antonio, Aline;
Lonjou, Christine;
Carpentier, Wassila;
Mohand-Saïd, Saddek;
den Hollander, Anneke I.;
Cremers, Frans P. M.;
Leroy, Bart P.;
Xiaowu Gai;
Sahel, José-Alain;
van den Born, L. Ingeborgh;
Collin, Rob W. J.;
Zeitz, Christina

Publication type:

Article

NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 251, doi. 10.1093/hmg/ddu443

By:

Gladman, Jordan T.;
Yadava, Ramesh S.;
Mandal, Mahua;
Qing Yu;
Kim, Yun K.;
Mahadevan, Mani S.

Publication type:

Article

Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 37, doi. 10.1093/hmg/ddu417

By:

Taylor, Ruth;
Bullen, Anwen;
Johnson, Stuart L.;
Grimm-Günter, Eva-Maria;
Rivero, Francisco;
Marcotti, Walter;
Forge, Andrew;
Daudet, Nicolas

Publication type:

Article

Genomic analysis of fibrolamellar hepatocellular carcinoma.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 50, doi. 10.1093/hmg/ddu418

By:

Lei Xu;
Hazard, Florette K.;
Zmoos, Anne-Flore;
Jahchan, Nadine;
Chaib, Hassan;
Garfin, Phillip M.;
Rangaswami, Arun;
Snyder, Michael P.;
Sage, Julien

Publication type:

Article

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 265, doi. 10.1093/hmg/ddu420

By:

Mitchell, Laura E.;
Agopian, A. J.;
Bhalla, Angela;
Glessner, Joseph T.;
Kim, Cecilia E.;
Swartz, Michael D.;
Hakonarson, Hakon;
Goldmuntz, Elizabeth

Publication type:

Article

A murine model of neurofibromatosis type 2 that accurately phenocopies human schwannoma formation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 1, doi. 10.1093/hmg/ddu414

By:

Gehlhausen, Jeffrey R.;
Park, Su-Jung;
Hickox, Ann E.;
Shew, Matthew;
Staser, Karl;
Rhodes, Steven D.;
Menon, Keshav;
Lajiness, Jacquelyn D.;
Mwanthi, Muithi;
Xianlin Yang;
Jin Yuan;
Territo, Paul;
Hutchins, Gary;
Nalepa, Grzegorz;
Feng-Chun Yang;
Conway, Simon J.;
Heinz, Michael G.;
Stemmer-Rachamimov, Anat;
Yates, Charles W.;
Clapp, D. Wade

Publication type:

Article

Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 142, doi. 10.1093/hmg/ddu425

By:

Wanfeng Yu;
Xin He;
Ying Ni;
Ngeow, Joanne;
Eng, Charis

Publication type:

Article

A dopamine receptor contributes to paraquat-induced neurotoxicity in Drosophila.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 197, doi. 10.1093/hmg/ddu430

By:

Cassar, Marlène;
Issa, Abdul-Raouf;
Riemensperger, Thomas;
Petitgas, Céline;
Rival, Thomas;
Coulom, Hélène;
Iché-Torres, Magali;
Han, Kyung-An;
Birman, Serge

Publication type:

Article

Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 64, doi. 10.1093/hmg/ddu419

By:

Giorgetti, Elisa;
Rusmini, Paola;
Crippa, Valeria;
Cristofani, Riccardo;
Boncoraglio, Alessandra;
Cicardi, Maria E.;
Galbiati, Mariarita;
Poletti, Angelo

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu696
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu644
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu670
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu618
Publication type:: Article