Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 23

Results: 15

Fine mapping of the α-T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3133, doi. 10.1093/hmg/ddg343

By:

Ertekin-Taner, Nilüfer;
Ronald, James;
Asahara, Hideaki;
Younkin, Linda;
Hella, Maria;
Jain, Shushant;
Gnida, Eugene;
Younkin, Samuel;
Fadale, Daniel;
Ohyagi, Yasumasa;
Singleton, Adam;
Scanlin, Leah;
de Andrade, Mariza;
Petersen, Ronald;
Graff-Radford, Neill;
Hutton, Michael;
Younkin, Steven

Publication type:

Article

Plectin 5′-transcript diversity: short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3181, doi. 10.1093/hmg/ddg345

By:

Rezniczek, Günther A.;
Abrahamsberg, Christina;
Fuchs, Peter;
Spazierer, Daniel;
Wiche, Gerhard

Publication type:

Article

The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3195, doi. 10.1093/hmg/ddg344

By:

Burnett, Barrington;
Li, Fusheng;
Pittman, Randall N.

Publication type:

Article

Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3151, doi. 10.1093/hmg/ddg341

By:

Hennah, William;
Varilo, Teppo;
Kestilä, Marjo;
Paunio, Tiina;
Arajärvi, Ritva;
Haukka, Jari;
Parker, Alex;
Martin, Rory;
Levitzky, Steve;
Partonen, Timo;
Meyer, Joanne;
Lönnqvist, Jouko;
Peltonen, Leena;
Ekelund, Jesper

Publication type:

Article

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3161, doi. 10.1093/hmg/ddg340

By:

Fernández-Sánchez, Maria Elena;
Criado-García, Olga;
Heath, Karen E.;
García-Fojeda, Belén;
Medraño-Fernández, Iria;
Gomez-Garre, Pilar;
Sanz, Pascual;
Serratosa, José María;
Rodríguez de Córdoba, Santiago

Publication type:

Article

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3173, doi. 10.1093/hmg/ddg339

By:

de Pontual, Loïc;
Népote, Virginie;
Attié-Bitach, Tania;
Al Halabiah, Hassan;
Trang, Ha;
Elghouzzi, Vincent;
Levacher, Béatrice;
Benihoud, Karim;
Augé, Joëlle;
Faure, Christophe;
Laudier, Béatrice;
Vekemans, Michel;
Munnich, Arnold;
Perricaudet, Michel;
Guillemot, François;
Gaultier, Claude;
Lyonnet, Stanislas;
Simonneau, Michel;
Amiel, Jeanne

Publication type:

Article

Paternal imprints can be established on the maternal Igf2-H19 locus without altering replication timing of DNA.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3123, doi. 10.1093/hmg/ddg338

By:

Cerrato, Flavia;
Dean, Wendy;
Davies, Karen;
Kagotani, Kazuhiro;
Mitsuya, Kohzoh;
Okumura, Katsuzumi;
Riccio, Andrea;
Reik, Wolf

Publication type:

Article

The usefulness of different density SNP maps for disease association studies of common variants.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3145, doi. 10.1093/hmg/ddg337

By:

Wang, William Y. S.;
Todd, John A.

Publication type:

Article

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3043, doi. 10.1093/hmg/ddg336

By:

Lingaas, Frode;
Comstock, Kenine E.;
Kirkness, Ewen F.;
Sørensen, Anita;
Aarskaug, Tone;
Hitte, Christophe;
Nickerson, Michael L.;
Moe, Lars;
Schmidt, Laura S.;
Thomas, Rachael;
Breen, Matthew;
Galibert, Francis;
Zbar, Berton;
Ostrander, Elaine A.

Publication type:

Article

Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3087, doi. 10.1093/hmg/ddg335

By:

Mazroui, Rachid;
Huot, Marc-Etienne;
Tremblay, Sandra;
Boilard, Nathalie;
Labelle, Yves;
Khandjian, Edouard W.

Publication type:

Article

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3055, doi. 10.1093/hmg/ddg334

By:

Ohno, Kinji;
Milone, Margherita;
Shen, Xin-Ming;
Engel, Andrew G.

Publication type:

Article

Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3097, doi. 10.1093/hmg/ddg333

By:

Le Corvoisier, Philippe;
Park, Hyun-Young;
Carlson, Kerri M.;
Marchuk, Douglas A.;
Rockman, Howard A.

Publication type:

Article

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3075, doi. 10.1093/hmg/ddg332

By:

Johnson, Kenneth R.;
Gagnon, Leona H.;
Webb, Lisa S.;
Peters, Luanne L.;
Hawes, Norman L.;
Chang, Bo;
Zheng, Qing Yin

Publication type:

Article

The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3067, doi. 10.1093/hmg/ddg331

By:

Chen, Li-Sheng;
Tassone, Flora;
Sahota, Parminder;
Hagerman, Paul J.

Publication type:

Article

Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 23, p. 3109, doi. 10.1093/hmg/ddg330

By:

Craig, Jeffrey M.;
Earle, Elizabeth;
Canham, Paul;
Wong, Lee H.;
Anderson, Melissa;
Choo, K.H. Andy

Publication type:

Article