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

Results: 17

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
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
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
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
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
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
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
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
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