Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 3

Results: 14

Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 376, doi. 10.1093/hmg/ddm315

By:

Branco, Joana;
Al-Ramahi, Ismael;
Ukani, Lubna;
Pérez, Alma M.;
Fernandez-Funez, Pedro;
Rincón-Limas, Diego;
Botas, Juan

Publication type:

Article

Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 402, doi. 10.1093/hmg/ddm317

By:

Nornes, Svanhild;
Newman, Morgan;
Verdile, Giuseppe;
Wells, Simon;
Stoick-Cooper, Cristi L.;
Tucker, Ben;
Frederich-Sleptsova, Inna;
Martins, Ralph;
Lardelli, Michael

Publication type:

Article

Copy-number variation in control population cohorts.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 466

By:

Pinto, Dalila;
Marshall, Christian;
Feuk, Lars;
Scherer, Stephen W.

Publication type:

Article

Genetic determinants of emotionality and stress response in AcB/BcA recombinant congenic mice and in silico evidence of convergence with cardiovascular candidate genes.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 331, doi. 10.1093/hmg/ddm277

By:

Thifault, Stéphane;
Ondřej, Šeda;
Sun, Yulin;
Fortin, Anny;
Skamene, Emil;
Lalonde, Robert;
Tremblay, Johanne;
Hamet, Pavel

Publication type:

Article

Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 413

By:

Fava, C.;
Montagnana, M.;
Rosberg, L.;
Burri, P.;
Almgren, P.;
Jönsson, A.;
Wanby, P.;
Lippi, G.;
Minuz, P.;
Hulthèn, L.U.;
Aurell, M.;
Melander, O.

Publication type:

Article

Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 440, doi. 10.1093/hmg/ddm322

By:

Esposito, Giuseppe;
Imitola, Jaime;
Lu, Jie;
De Filippis, Daniele;
Scuderi, Caterina;
Ganesh, Vijay S.;
Folkerth, Rebecca;
Hecht, Jonathan;
Shin, Soojung;
Iuvone, Teresa;
Chesnut, Jonathan;
Steardo, Luca;
Sheen, Volney

Publication type:

Article

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 468

By:

Kandert, Sebastian;
Lüke, Yvonne;
Kleinhenz, Tobias;
Neumann, Sascha;
Lu, Wenshu;
Jaeger, Verena M.;
Munck, Martina;
Wehnert, Manfred;
Müller, Clemens R.;
Zhou, Zhongjun;
Noegel, Angelika A.;
Dabauvalle, Marie-Christine;
Karakesisoglou, Iakowos

Publication type:

Article

Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot–Marie–Tooth type 2A.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 367, doi. 10.1093/hmg/ddm314

By:

Detmer, Scott A.;
Velde, Christine Vande;
Cleveland, Don W.;
Chan, David C.

Publication type:

Article

Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 419

By:

Senawong, Thanaset;
Phuchareon, Janyaporn;
Ohara, Osamu;
McCormick, Frank;
Rauen, Katherine A.;
Tetsu, Osamu

Publication type:

Article

Lysine 63-linked ubiquitination promotes the formation and autophagic clearance of protein inclusions associated with neurodegenerative diseases.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 431, doi. 10.1093/hmg/ddm320

By:

Tan, Jeanne M.M.;
Wong, Esther S.P.;
Kirkpatrick, Donald S.;
Pletnikova, Olga;
Ko, Han Seok;
Tay, Shiam-Peng;
Ho, Michelle W.L.;
Troncoso, Juan;
Gygi, Steven P.;
Lee, Michael K.;
Dawson, Valina L.;
Dawson, Ted M.;
Lim, Kah-Leong

Publication type:

Article

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 458

By:

Kirov, George;
Gumus, Dilihan;
Chen, Wei;
Norton, Nadine;
Georgieva, Lyudmila;
Sari, Murat;
O’Donovan, Michael C;
Erdogan, Fikret;
Owen, Michael J;
Ropers, Hans-Hilger;
Ullmann, Reinhard

Publication type:

Article

In vivo YY1 knockdown effects on genomic imprinting.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 391, doi. 10.1093/hmg/ddm316

By:

Kim, Joomyeong;
Kim, Jeong Do

Publication type:

Article

Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 357, doi. 10.1093/hmg/ddm312

By:

Labarque, Veerle;
Freson, Kathleen;
Thys, Chantal;
Wittevrongel, Christine;
Hoylaerts, Marc F.;
De Vos, Rita;
Goemans, Nathalie;
Van Geet, Chris

Publication type:

Article

Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 345, doi. 10.1093/hmg/ddm311

By:

Takahashi, Toshiaki;
Kikuchi, Shinya;
Katada, Shinichi;
Nagai, Yoshitaka;
Nishizawa, Masatoyo;
Onodera, Osamu

Publication type:

Article