Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 3

Results: 17

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 611, doi. 10.1093/hmg/ddw420

By:

Ottaviani, Daniele;
Marin, Oriano;
Arrigoni, Giorgio;
Franchin, Cinzia;
Vilardell, Jordi;
Sandre, Michele;
Wenwen Li;
Parfitt, David A.;
Pinna, Lorenzo A.;
Cheetham, Michael E.;
Ruzzene, Maria

Publication type:

Article

The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 624, doi. 10.1093/hmg/ddw421

By:

Junhuang Zou;
Qian Chen;
Almishaal, Ali;
Mathur, Pranav Dinesh;
Tihua Zheng;
Tian, Cong;
Zheng, Qing Y.;
Jun Yang

Publication type:

Article

Mutations in BOREALIN cause thyroid dysgenesis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 599, doi. 10.1093/hmg/ddw419

By:

Carré, Aurore;
Stoupa, Athanasia;
Kariyawasam, Dulanjalee;
Gueriouz, Manelle;
Ramond, Cyrille;
Monus, Taylor;
Léger, Juliane;
Gaujoux, Sébastien;
Sebag, Frédéric;
Glaser, Nicolas;
Zenaty, Delphine;
Nitschke, Patrick;
Bole-Feysot, Christine;
Hubert, Laurence;
Lyonnet, Stanislas;
Scharfmann, Raphael;
Munnich, Arnold;
Besmond, Claude;
Taylor, William;
Polak, Michel

Publication type:

Article

Parkin functionally interacts with PGC-1α to preserve mitochondria and protect dopaminergic neurons.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 582, doi. 10.1093/hmg/ddw418

By:

Lu Zheng;
Bernard-Marissal, Nathalie;
Moullan, Norman;
D'Amico, Davide;
Auwerx, Johan;
Moore, Darren J.;
Knott, Graham;
Aebischer, Patrick;
Schneider, Bernard L.

Publication type:

Article

Targeting ENT1 and adenosine tone for the treatment of Huntington's disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 467, doi. 10.1093/hmg/ddw402

By:

Yu-Han Kao;
Meng-Syuan Lin;
Chiung-Mei Chen;
Yih-Ru Wu;
Hui-Mei Chen;
Hsing-Lin Lai;
Yijuang Chern;
Chun-Jung Lin

Publication type:

Article

Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 637, doi. 10.1093/hmg/ddw401

By:

Sennblad, Bengt;
Basu, Saonli;
Mazur, Johanna;
Suchon, Pierre;
Martinez-Perez, Angel;
van Hylckama Vlieg, Astrid;
Vinh Truong;
Yuhuang Li;
Gádin, Jesper R.;
Weihong Tang;
Grossman, Vera;
de Haan, Hugoline G.;
Handin, Niklas;
Silveira, Angela;
Souto, Juan Carlos;
Franco-Cereceda, Anders;
Morange, Pierre-Emmanuel;
Gagnon, France;
Soria, Jose Manuel;
Eriksson, Per

Publication type:

Article

RETRACTION.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 3, p. 660, doi. 10.1093/hmg/ddu558
Publication type:: Article

Identifying new antiepileptic drugs through genomics-based drug repurposing.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 527, doi. 10.1093/hmg/ddw410

By:

Mirza, Nasir;
Sills, Greame J.;
Pirmohamed, Munir;
Marson, Anthony G.

Publication type:

Article

Evidence of epigenetic admixture in the Colombian population.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 501, doi. 10.1093/hmg/ddw407

By:

Rawlik, Konrad;
Rowlatt, Amy;
Sanabria-Salas, Maria Carolina;
Hernândez-Suârez, Gustavo;
Serrano Lopez, Martha Lucia;
Zabaleta, Jovanny;
Tenesa, Albert

Publication type:

Article

Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 567, doi. 10.1093/hmg/ddw415

By:

Vicente-Salvador, David;
Puig, Marta;
Gayà-Vidal, Magdalena;
Pacheco, Sarai;
Giner-Delgado, Carla;
Noguera, Isaac;
Izquierdo, David;
Martínez-Fundichely, Alexander;
Ruiz-Herrera, Aurora;
Estivill, Xavier;
Aguado, Cristina;
Lucas-Lledó, José Ignacio;
Cáceres, Mario

Publication type:

Article

Transcriptomic profiling of purified patient-derived dopamine neurons identifies convergent perturbations and therapeutics for Parkinson's disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 552, doi. 10.1093/hmg/ddw412

By:

Sandor, Cynthia;
Robertson, Paul;
Lang, Charmaine;
Heger, Andreas;
Booth, Heather;
Vowles, Jane;
Witty, Lorna;
Bowden, Rory;
Hu, Michele;
Cowley, Sally A.;
Wade-Martins, Richard;
Webber, Caleb

Publication type:

Article

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 538, doi. 10.1093/hmg/ddw411

By:

Schmiesing, Jessica;
Lohmöller, Benjamin;
Schweizer, Michaela;
Tidow, Henning;
Gersting, Søren W.;
Muntau, Ania C.;
Braulke, Thomas;
Mühlhausen, Chris

Publication type:

Article

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 519, doi. 10.1093/hmg/ddw409

By:

Evers, Jochem M. G.;
Laskowski, Roman A.;
Bertolli, Marta;
Clayton-Smith, Jill;
Deshpande, Charu;
Eason, Jacqueline;
Elmslie, Frances;
Flinter, Frances;
Gardiner, Carol;
Hurst, Jane A.;
Kingston, Helen;
Kini, Usha;
Lampe, Anne K.;
Derek Lim;
Male, Alison;
Naik, Swati;
Parker, Michael J.;
Price, Sue;
Robert, Leema;
Sarkar, Ajoy

Publication type:

Article

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 509, doi. 10.1093/hmg/ddw408

By:

Conley, Shannon M.;
Stuck, Michael W.;
Watson, Jamie N.;
Naash, Muna I.

Publication type:

Article

Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 650, doi. 10.1093/hmg/ddw406

By:

Minae Kawashima;
Yuki Hitomi;
Yoshihiro Aiba;
Nao Nishida;
Kaname Kojima;
Yosuke Kawai;
Hitomi Nakamura;
Atsushi Tanaka;
Mikio Zeniya;
Etsuko Hashimoto;
Hiromasa Ohira;
Kazuhide Yamamoto;
Masanori Abe;
Kazuhiko Nakao;
Satoshi Yamagiwa;
Shuichi Kaneko;
Masao Honda;
Takeji Umemura;
Takafumi Ichida;
Masataka Seike

Publication type:

Article

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 489, doi. 10.1093/hmg/ddw405

By:

Spataro, Nino;
Rodríguez, Juan Antonio;
Navarro, Arcadi;
Bosch, Elena

Publication type:

Article

Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 479, doi. 10.1093/hmg/ddw404

By:

Kroeger, Jasmin K.;
Hofmann, Silke C.;
Leppert, Juna;
Has, Cristina;
Franzke, Claus-Werner

Publication type:

Article