Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 18

Results: 16

Embryonic motor axon development in the severe SMA mouse.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2900, doi. 10.1093/hmg/ddn189

By:

McGovern, Vicki L.;
Gavrilina, Tatiana O.;
Beattie, Christine E.;
Burghes, Arthur H.M.

Publication type:

Article

A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2868, doi. 10.1093/hmg/ddn184

By:

Sigurdsson, Snaevar;
Nordmark, Gunnel;
Garnier, Sophie;
Grundberg, Elin;
Kwan, Tony;
Nilsson, Olof;
Eloranta, Maija-Leena;
Gunnarsson, Iva;
Svenungsson, Elisabet;
Sturfelt, Gunnar;
Bengtsson, Anders A.;
Jönsen, Andreas;
Truedsson, Lennart;
Rantapää-Dahlqvist, Solbritt;
Eriksson, Catharina;
Alm, Gunnar;
Göring, Harald H.H.;
Pastinen, Tomi;
Syvänen, Ann-Christine;
Rönnblom, Lars

Publication type:

Article

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2776, doi. 10.1093/hmg/ddn177

By:

Yehezkel, Shiran;
Segev, Yardena;
Viegas-Péquignot, Evani;
Skorecki, Karl;
Selig, Sara

Publication type:

Article

Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2863, doi. 10.1093/hmg/ddn183

By:

Chapuis, Julien;
Moisan, Frédéric;
Mellick, Georges;
Elbaz, Alexis;
Silburn, Peter;
Pasquier, Florence;
Hannequin, Didier;
Lendon, Corinne;
Campion, Dominique;
Amouyel, Philippe;
Lambert, Jean-Charles

Publication type:

Article

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2886, doi. 10.1093/hmg/ddn187

By:

McBride, Kim L.;
Riley, Maurisa F.;
Zender, Gloria A.;
Fitzgerald-Butt, Sara M.;
Towbin, Jeffrey A.;
Belmont, John W.;
Cole, Susan E.

Publication type:

Article

Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2910, doi. 10.1093/hmg/ddn190

By:

Scaringe, William A.;
Li, Kai;
Gu, Dongqing;
Gonzalez, Kelly D.;
Chen, Zhenbin;
Hill, Kathleen A.;
Sommer, Steve S.

Publication type:

Article

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2919, doi. 10.1093/hmg/ddn207

By:

Martin, Dianna C.;
Atmuri, Vasantha;
Hemming, Richard J.;
Farley, Judith;
Mort, John S.;
Byers, Sharon;
Hombach-Klonisch, Sabine;
Csoka, Antonei B.;
Stern, Robert;
Triggs-Raine, Barbara L.

Publication type:

Article

Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2790, doi. 10.1093/hmg/ddn178

By:

Auchère, Françoise;
Santos, Renata;
Planamente, Sara;
Lesuisse, Emmanuel;
Camadro, Jean-Michel

Publication type:

Article

Nicotinic acetylcholine receptor β2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2834, doi. 10.1093/hmg/ddn181

By:

Conti, David V.;
Lee, Won;
Li, Dalin;
Liu, Jinghua;
Van Den Berg, David;
Thomas, Paul D.;
Bergen, Andrew W.;
Swan, Gary E.;
Tyndale, Rachel F.;
Benowitz, Neal L.;
Lerman, Caryn

Publication type:

Article

A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2849, doi. 10.1093/hmg/ddn182

By:

Teuling, Eva;
van Dis, Vera;
Wulf, Phebe S.;
Haasdijk, Elize D.;
Akhmanova, Anna;
Hoogenraad, Casper C.;
Jaarsma, Dick

Publication type:

Article

Loss of polycystin-1 causes centrosome amplification and genomic instability.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2819, doi. 10.1093/hmg/ddn180

By:

Battini, Lorenzo;
Macip, Salvador;
Fedorova, Elena;
Dikman, Steven;
Somlo, Stefan;
Montagna, Cristina;
Gusella, G. Luca

Publication type:

Article

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2766, doi. 10.1093/hmg/ddn176

By:

Couvineau, Alain;
Wouters, Vinciane;
Bertrand, Guylène;
Rouyer, Christiane;
Gérard, Bénédicte;
Boon, Laurence M.;
Grandchamp, Bernard;
Vikkula, Miikka;
Silve, Caroline

Publication type:

Article

ATP modulates PTEN subcellular localization in multiple cancer cell lines.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2877, doi. 10.1093/hmg/ddn185

By:

Lobo, Glenn P.;
Waite, Kristin A.;
Planchon, Sarah M.;
Romigh, Todd;
Houghton, Janet A.;
Eng, Charis

Publication type:

Article

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2753, doi. 10.1093/hmg/ddn160

By:

Geier, Christian;
Gehmlich, Katja;
Ehler, Elisabeth;
Hassfeld, Sabine;
Perrot, Andreas;
Hayess, Katrin;
Cardim, Nuno;
Wenzel, Katrin;
Erdmann, Bettina;
Krackhardt, Florian;
Posch, Maximilian G.;
Bublak, Angelika;
Nägele, Herbert;
Scheffold, Thomas;
Dietz, Rainer;
Chien, Kenneth R.;
Spuler, Simone;
Fürst, Dieter O.;
Nürnberg, Peter;
Özcelik, Cemil

Publication type:

Article

Polygenic determinants of severe hypertriglyceridemia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2894, doi. 10.1093/hmg/ddn188

By:

Wang, Jian;
Ban, Matthew R.;
Zou, Guang Yong;
Cao, Henian;
Lin, Tim;
Kennedy, Brooke A.;
Anand, Sonia;
Yusuf, Salim;
Huff, Murray W.;
Pollex, Rebecca L.;
Hegele, Robert A.

Publication type:

Article

Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 18, p. 2803, doi. 10.1093/hmg/ddn179

By:

Ehrmann, Ingrid;
Dalgliesh, Caroline;
Tsaousi, Aikaterini;
Paronetto, Maria Paola;
Heinrich, Bettina;
Kist, Ralf;
Cairns, Paul;
Li, Weiping;
Mueller, Christian;
Jackson, Michael;
Peters, Heiko;
Nayernia, Karim;
Saunders, Philippa;
Mitchell, Michael;
Stamm, Stefan;
Sette, Claudio;
Elliott, David J.

Publication type:

Article