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 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
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
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
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
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
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
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
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
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
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
Cover Page.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu644
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
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
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
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
Subscription Page.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu696
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
Editorial Board.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 1, p. NP, doi. 10.1093/hmg/ddu670
Publication type:
Article