Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 5

Results: 11

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 573, doi. 10.1093/hmg/ddh059

By:

Li, Yi-Ju;
Oliveira, Sofia A.;
Xu, Puting;
Martin, Eden R.;
Stenger, Judith E.;
Hulette, Christine;
Scherzer, Clemens R.;
Hauser, Michael A.;
Scott, William K.;
Small, Gary W.;
Nance, Martha A.;
Watts, Ray L.;
Hubble, Jean P.;
Koller, William C.;
Pahwa, Rajesh;
Stern, Matthew B.;
Hiner, Bradley C.;
Jankovic, Joseph;
Goetz, Christopher G.;
Mastaglia, Frank

Publication type:

Article

Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 551, doi. 10.1093/hmg/ddh047

By:

Toyota, Tomoko;
Yoshitsugu, Kiyoshi;
Ebihara, Mitsuru;
Yamada, Kazuo;
Ohba, Hisako;
Fukasawa, Masayuki;
Minabe, Yoshio;
Nakamura, Kazuhiko;
Sekine, Yoshimoto;
Takei, Noriyoshi;
Suzuki, Katsuaki;
Itokawa, Masanari;
Meerabux, Joanne M.A.;
Iwayama-Shigeno, Yoshimi;
Tomaru, Yoshiro;
Shimizu, Hiromitsu;
Hattori, Eiji;
Mori, Norio;
Yoshikawa, Takeo

Publication type:

Article

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 525, doi. 10.1093/hmg/ddh048

By:

Cideciyan, Artur V.;
Aleman, Tomas S.;
Swider, Malgorzata;
Schwartz, Sharon B.;
Steinberg, Janet D.;
Brucker, Alexander J.;
Maguire, Albert M.;
Bennett, Jean;
Stone, Edwin M.;
Jacobson, Samuel G.

Publication type:

Article

Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 563, doi. 10.1093/hmg/ddh049

By:

Wang, Fudi;
Kim, Byung-Eun;
Dufner-Beattie, Jodi;
Petris, Michael J.;
Andrews, Glen;
Eide, David J.

Publication type:

Article

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 535, doi. 10.1093/hmg/ddh050

By:

Grubenmann, Claudia E.;
Frank, Christian G.;
Hülsmeier, Andreas J.;
Schollen, Els;
Matthijs, Gert;
Mayatepek, Ertan;
Berger, Eric G.;
Aebi, Markus;
Hennet, Thierry

Publication type:

Article

Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 509, doi. 10.1093/hmg/ddh051

By:

Stoilov, Peter;
Daoud, Rosette;
Nayler, Oliver;
Stamm, Stefan

Publication type:

Article

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 543, doi. 10.1093/hmg/ddh053

By:

Beilina, Alexandra;
Tassone, Flora;
Schwartz, Philip H.;
Sahota, Parminder;
Hagerman, Paul J.

Publication type:

Article

A phosphorylated, carboxy-terminal fragment of β-amyloid precursor protein localizes to the splicing factor compartment.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 475, doi. 10.1093/hmg/ddh054

By:

Muresan, Zoia;
Muresan, Virgil

Publication type:

Article

Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 489, doi. 10.1093/hmg/ddh055

By:

Evans, Patrick D.;
Anderson, Jeffrey R.;
Vallender, Eric J.;
Gilbert, Sandra L.;
Malcom, Christine M.;
Dorus, Steve;
Lahn, Bruce T.

Publication type:

Article

Replication timing of the human genome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 575, doi. 10.1093/hmg/ddh058

By:

Woodfine, Kathryn;
Fiegler, Heike;
Beare, David M.;
Collins, John E.;
McCann, Owen T.;
Young, Bryan D.;
Debernardi, Silvana;
Mott, Richard;
Dunham, Ian;
Carter, Nigel P.

Publication type:

Article

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 5, p. 495, doi. 10.1093/hmg/ddh056

By:

Kino, Yoshihiro;
Mori, Daisuke;
Oma, Yoko;
Takeshita, Yuya;
Sasagawa, Noboru;
Ishiura, Shoichi

Publication type:

Article