Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 16

Results: 12

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2533, doi. 10.1093/hmg/ddl174

By:

Urak, Lydia;
Feucht, Martha;
Fathi, Nahid;
Hornik, Kurt;
Fuchs, Karoline

Publication type:

Article

Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2523, doi. 10.1093/hmg/ddl173

By:

Satterfield, Terrence F.;
Pallanck, Leo J.

Publication type:

Article

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2509, doi. 10.1093/hmg/ddl172

By:

Verstraeten, Valerie L.R.M.;
Broers, Jos L.V.;
van Steensel, Maurice A.M.;
Zinn-Justin, Sophie;
Ramaekers, Frans C.S.;
Steijlen, Peter M.;
Kamps, Miriam;
Kuijpers, Helma J.H.;
Merckx, Diane;
Smeets, Hubert J.M.;
Hennekam, Raoul C.M.;
Marcelis, Carlo L.M.;
van den Wijngaard, Arthur

Publication type:

Article

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2490, doi. 10.1093/hmg/ddl171

By:

Smith, Philip J.;
Zhang, Chaolin;
Wang, Jinhua;
Chew, Shern L.;
Zhang, Michael Q.;
Krainer, Adrian R.

Publication type:

Article

Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery–Dreifuss muscular dystrophy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2479, doi. 10.1093/hmg/ddl170

By:

Wang, Yuexia;
Herron, Alan J.;
Worman, Howard J.

Publication type:

Article

Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2468, doi. 10.1093/hmg/ddl169

By:

Song, Qing;
Cole, John W.;
O'Connell, Jeffrey R.;
Stine, Oscar C.;
Gallagher, Margaret;
Giles, Wayne H.;
Mitchell, Braxton D.;
Wozniak, Marcella A.;
Stern, Barney J.;
Sorkin, John D.;
McArdle, Patrick F.;
Naj, Adam C.;
Xu, Qin;
Gibbons, Gary H.;
Kittner, Steven J.

Publication type:

Article

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2457, doi. 10.1093/hmg/ddl168

By:

Hart, Alan W.;
Morgan, Joanne E.;
Schneider, Jürgen;
West, Katrine;
McKie, Lisa;
Bhattacharya, Shoumo;
Jackson, Ian J.;
Cross, Sally H.

Publication type:

Article

A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2446, doi. 10.1093/hmg/ddl167

By:

Riemenschneider, Matthias;
Konta, Lidija;
Friedrich, Patricia;
Schwarz, Sandra;
Taddei, Kevin;
Neff, Frauke;
Padovani, Alessandro;
Kölsch, Heike;
Laws, Simon M.;
Klopp, Norman;
Bickeböller, Heike;
Wagenpfeil, Stefan;
Mueller, Jakob C.;
Rosenberger, Albert;
Diehl-Schmid, Janine;
Archetti, Silvana;
Lautenschlager, Nicola;
Borroni, Barbara;
Müller, Ulrich;
Illig, Thomas

Publication type:

Article

Nf1+/− mast cells induce neurofibroma like phenotypes through secreted TGF-β signaling.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2421, doi. 10.1093/hmg/ddl165

By:

Yang, Feng-Chun;
Chen, Shi;
Clegg, Travis;
Li, Xiaohong;
Morgan, Trent;
Estwick, Selina A.;
Yuan, Jin;
Khalaf, Waleed;
Burgin, Sarah;
Travers, Jeff;
Parada, Luis F.;
Ingram, David A.;
Clapp, D. Wade

Publication type:

Article

Ataxin-3 binds VCP/p97 and regulates retrotranslocation of ERAD substrates.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2409, doi. 10.1093/hmg/ddl164

By:

Zhong, Xiaoyan;
Pittman, Randall N.

Publication type:

Article

Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche: a genetic association study in Caucasian females.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2401, doi. 10.1093/hmg/ddl155

By:

Guo, Yan;
Xiong, Dong-Hai;
Yang, Tie-Lin;
Guo, Yan-Fang;
Recker, Robert R.;
Deng, Hong-Wen

Publication type:

Article

P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 16, p. 2438, doi. 10.1093/hmg/ddl166

By:

Lucae, Susanne;
Salyakina, Daria;
Barden, Nicholas;
Harvey, Mario;
Gagné, Bernard;
Labbé, Michel;
Binder, Elisabeth B.;
Uhr, Manfred;
Paez-Pereda, Marcelo;
Sillaber, Inge;
Ising, Marcus;
Brückl, Tanja;
Lieb, Roselind;
Holsboer, Florian;
Müller-Myhsok, Bertram

Publication type:

Article