Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 2

Results: 15

Alpha-cardiac actin mutations produce atrial septal defects.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 256, doi. 10.1093/hmg/ddm302

By:

Matsson, Hans;
Eason, Jacqueline;
Bookwalter, Carol S.;
Klar, Joakim;
Gustavsson, Peter;
Sunnegårdh, Jan;
Enell, Henrik;
Jonzon, Anders;
Vikkula, Miikka;
Gutierrez, Ilse;
Granados-Riveron, Javier;
Pope, Mark;
Bu’Lock, Frances;
Cox, Jane;
Robinson, Thelma E;
Song, Feifei;
Brook, David J;
Marston, Steven;
Trybus, Kathleen M.;
Dahl, Niklas

Publication type:

Article

HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 240, doi. 10.1093/hmg/ddm301

By:

Raychaudhuri, Swasti;
Sinha, Mithun;
Mukhopadhyay, Debashis;
Bhattacharyya, Nitai P.

Publication type:

Article

Susceptibility to sequelae of human ocular chlamydial infection associated with allelic variation in IL10 cis-regulation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 323, doi. 10.1093/hmg/ddm310

By:

Natividad, Angels;
Holland, Martin J.;
Rockett, Kirk A.;
Forton, Julian;
Faal, Nkoyo;
Joof, Hassan M.;
Mabey, David C.W.;
Bailey, Robin L.;
Kwiatkowski, Dominic P.

Publication type:

Article

ASAP is a novel substrate of the oncogenic mitotic kinase Aurora-A: phosphorylation on Ser625 is essential to spindle formation and mitosis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 215, doi. 10.1093/hmg/ddm298

By:

Venoux, Magali;
Basbous, Jihane;
Berthenet, Cyril;
Prigent, Claude;
Fernandez, Anne;
Lamb, Ned J.;
Rouquier, Sylvie

Publication type:

Article

A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 170, doi. 10.1093/hmg/ddm294

By:

Sarkar, Sovan;
Krishna, Gauri;
Imarisio, Sara;
Saiki, Shinji;
O'Kane, Cahir J.;
Rubinsztein, David C.

Publication type:

Article

LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 201

By:

Dimmer, Kai Stefan;
Navoni, Francesca;
Casarin, Alberto;
Trevisson, Eva;
Endele, Sabine;
Winterpacht, Andreas;
Salviati, Leonardo;
Scorrano, Luca

Publication type:

Article

Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 225, doi. 10.1093/hmg/ddm300

By:

Gonzalez-Santos, Juana Maria;
Cao, Huibi;
Duan, Rongqi Cathleen;
Hu, Jim

Publication type:

Article

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 159, doi. 10.1093/hmg/ddm292

By:

Van Laer, Lut;
Van Eyken, Els;
Fransen, Erik;
Huyghe, Jeroen R.;
Topsakal, Vedat;
Hendrickx, Jan-Jaap;
Hannula, Samuli;
Mäki-Torkko, Elina;
Jensen, Mona;
Demeester, Kelly;
Baur, Manuela;
Bonaconsa, Amanda;
Mazzoli, Manuela;
Espeso, Angeles;
Verbruggen, Katia;
Huyghe, Joke;
Huygen, Patrick;
Kunst, Sylvia;
Manninen, Minna;
Konings, Annelies

Publication type:

Article

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 281

By:

Samardzija, Marijana;
von Lintig, Johannes;
Tanimoto, Naoyuki;
Oberhauser, Vitus;
Thiersch, Markus;
Remé, Charlotte E.;
Seeliger, Mathias;
Grimm, Christian;
Wenzel, Andreas

Publication type:

Article

hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 266, doi. 10.1093/hmg/ddm303

By:

Chai, Andrea;
Withers, James;
Koh, Young Ho;
Parry, Katherine;
Bao, Hong;
Zhang, Bing;
Budnik, Vivian;
Pennetta, Giuseppa

Publication type:

Article

ubiquilin antagonizes presenilin and promotes neurodegeneration in Drosophila.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 293, doi. 10.1093/hmg/ddm305

By:

Ganguly, Atish;
Feldman, R.M. Renny;
Guo, Ming

Publication type:

Article

Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 179

By:

Birley, Andrew J.;
James, Michael R.;
Dickson, Peter A.;
Montgomery, Grant W.;
Heath, Andrew C.;
Whitfield, John B.;
Martin, Nicholas G.

Publication type:

Article

Sodium-potassium ATPase β1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 190

By:

Zatyka, Malgorzata;
Ricketts, Christopher;
da Silva Xavier, Gabriela;
Minton, Jayne;
Fenton, Sarah;
Hofmann-Thiel, Sabine;
Rutter, Guy A;
Barrett, Timothy G.

Publication type:

Article

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 313, doi. 10.1093/hmg/ddm309

By:

van der Zee, Julie;
Urwin, Hazel;
Engelborghs, Sebastiaan;
Bruyland, Marc;
Vandenberghe, Rik;
Dermaut, Bart;
De Pooter, Tim;
Peeters, Karin;
Santens, Patrick;
De Deyn, Peter P.;
Fisher, Elizabeth M.;
Collinge, John;
Isaacs, Adrian M.;
Van Broeckhoven, Christine

Publication type:

Article

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 303

By:

Kitzmüller, Claudia;
Haines, Rebecca L.;
Codlin, Sandra;
Cutler, Daniel F.;
Mole, Sara E.

Publication type:

Article