Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 3

Results: 22

The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 454

By:

Lu, Yubing;
Wang, Fay;
Li, Yan;
Ferris, Jacob;
Lee, Jin-A;
Gao, Fen-Biao

Publication type:

Article

Sex-specific roles of β-catenin in mouse gonadal development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 405

By:

Liu, Chia-Feng;
Bingham, Nathan;
Parker, Keith;
Yao, Humphrey H.-C.

Publication type:

Article

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 594

By:

Deng, Han-Xiang;
Jiang, Hujun;
Fu, Ronggen;
Zhai, Hong;
Shi, Yong;
Liu, Erdong;
Hirano, Makito;
Dal Canto, Mauro C.;
Siddique, Teepu

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 3, p. NP, doi. 10.1093/hmg/ddp040
Publication type:: Article

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 517

By:

Zeevaert, Renate;
Foulquier, François;
Dimitrov, Boyan;
Reynders, Ellen;
Van Damme-Lombaerts, Rita;
Simeonov, Emil;
Annaert, Wim;
Matthijs, Gert;
Jaeken, Jaak

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 3, p. NP, doi. 10.1093/hmg/ddp039
Publication type:: Article

Cx36 makes channels coupling human pancreatic β-cells, and correlates with insulin expression.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 428, doi. 10.1093/hmg/ddn370

By:

Serre-Beinier, Véronique;
Bosco, Domenico;
Zulianello, Laurence;
Charollais, Anne;
Caille, Dorothée;
Charpantier, Eric;
Gauthier, Benoit R.;
Diaferia, Giuseppe R.;
Giepmans, Ben N.;
Lupi, Roberto;
Marchetti, Piero;
Deng, Shaoping;
Buhler, Léo;
Berney, Thierry;
Cirulli, Vincenzo;
Meda, Paolo

Publication type:

Article

Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 580, doi. 10.1093/hmg/ddn372

By:

Macgregor, Stuart;
Lind, Penelope A.;
Bucholz, Kathleen K.;
Hansell, Narelle K.;
Madden, Pamela A.F.;
Richter, Melinda M.;
Montgomery, Grant W.;
Martin, Nicholas G.;
Heath, Andrew C.;
Whitfield, John B.

Publication type:

Article

Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 391, doi. 10.1093/hmg/ddn361

By:

Wood, Jonathan D.;
Bonath, Franziska;
Kumar, Shashvita;
Ross, Christopher A.;
Cunliffe, Vincent T.

Publication type:

Article

A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 569

By:

Orrú, Valeria;
Tsai, Sophia J.;
Rueda, Blanca;
Fiorillo, Edoardo;
Stanford, Stephanie M.;
Dasgupta, Jhimli;
Hartiala, Jaana;
Zhao, Lei;
Ortego-Centeno, Norberto;
D’Alfonso, Sandra;
Arnett, Frank C.;
Wu, Hui;
Gonzalez-Gay, Miguel A.;
Tsao, Betty P.;
Pons-Estel, Bernardo;
Alarcon-Riquelme, Marta E.;
He, Yantao;
Zhang, Zhong-Yin;
Allayee, Hooman;
Chen, Xiaojiang S.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 3, p. NP, doi. 10.1093/hmg/ddp038
Publication type:: Article

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 440, doi. 10.1093/hmg/ddn371

By:

Dimitrov, Ariane;
Paupe, Vincent;
Gueudry, Charles;
Sibarita, Jean-Baptiste;
Raposo, Graça;
Vielemeyer, Ole;
Gilbert, Thierry;
Csaba, Zsolt;
Attie-Bitach, Tania;
Cormier-Daire, Valérie;
Gressens, Pierre;
Rustin, Pierre;
Perez, Franck;
El Ghouzzi, Vincent

Publication type:

Article

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 546, doi. 10.1093/hmg/ddn382

By:

Meyer, Kathrin;
Marquis, Julien;
Trüb, Judith;
Nlend Nlend, Rachel;
Verp, Sonia;
Ruepp, Marc-David;
Imboden, Hans;
Barde, Isabelle;
Trono, Didier;
Schümperli, Daniel

Publication type:

Article

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 463, doi. 10.1093/hmg/ddn374

By:

Bodian, Dale L.;
Chan, Ting-Fung;
Poon, Annie;
Schwarze, Ulrike;
Yang, Kathleen;
Byers, Peter H.;
Kwok, Pui-Yan;
Klein, Teri E.

Publication type:

Article

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 525, doi. 10.1093/hmg/ddn380

By:

Swanberg, Susan E.;
Nagarajan, Raman P.;
Peddada, Sailaja;
Yasui, Dag H.;
LaSalle, Janine M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 3, p. NP, doi. 10.1093/hmg/ddp037
Publication type:: Article

Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 482

By:

Villalta, S. Armando;
Nguyen, Hal X.;
Deng, Bo;
Gotoh, Tomomi;
Tidball, James G.

Publication type:

Article

A Runx2 threshold for the cleidocranial dysplasia phenotype.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 556

By:

Lou, Yang;
Javed, Amjad;
Hussain, Sadiq;
Colby, Jennifer;
Frederick, Dana;
Pratap, Jitesh;
Xie, Ronglin;
Gaur, Tripti;
van Wijnen, Andre J.;
Jones, Stephen N.;
Stein, Gary S.;
Lian, Jane B.;
Stein, Janet L.

Publication type:

Article

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 418, doi. 10.1093/hmg/ddn369

By:

Revenkova, Ekaterina;
Focarelli, Maria Luisa;
Susani, Lucia;
Paulis, Marianna;
Bassi, Maria Teresa;
Mannini, Linda;
Frattini, Annalisa;
Delia, Domenico;
Krantz, Ian;
Vezzoni, Paolo;
Jessberger, Rolf;
Musio, Antonio

Publication type:

Article

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 497, doi. 10.1093/hmg/ddn377

By:

Ferland, Russell J.;
Batiz, Luis Federico;
Neal, Jason;
Lian, Gewei;
Bundock, Elizabeth;
Lu, Jie;
Hsiao, Yi-Chun;
Diamond, Rachel;
Mei, Davide;
Banham, Alison H.;
Brown, Philip J.;
Vanderburg, Charles R.;
Joseph, Jeffrey;
Hecht, Jonathan L.;
Folkerth, Rebecca;
Guerrini, Renzo;
Walsh, Christopher A.;
Rodriguez, Esteban M.;
Sheen, Volney L.

Publication type:

Article

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 472, doi. 10.1093/hmg/ddn375

By:

Simpson, Claire L.;
Lemmens, Robin;
Miskiewicz, Katarzyna;
Broom, Wendy J.;
Hansen, Valerie K.;
van Vught, Paul W.J.;
Landers, John E.;
Sapp, Peter;
Van Den Bosch, Ludo;
Knight, Joanne;
Neale, Benjamin M.;
Turner, Martin R.;
Veldink, Jan H.;
Ophoff, Roel A.;
Tripathi, Vineeta B.;
Beleza, Ana;
Shah, Meera N.;
Proitsi, Petroula;
Van Hoecke, Annelies;
Carmeliet, Peter

Publication type:

Article

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 535, doi. 10.1093/hmg/ddn381

By:

Little, Hayley J.;
Rorick, Nicholas K.;
Su, Ling-I;
Baldock, Clair;
Malhotra, Saimon;
Jowitt, Tom;
Gakhar, Lokesh;
Subramanian, Ramaswamy;
Schutte, Brian C.;
Dixon, Michael J.;
Shore, Paul

Publication type:

Article