Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 23

Results: 19

Defective lysosomal arginine transport in juvenile Batten disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3759, doi. 10.1093/hmg/ddi406

By:

Ramirez-Montealegre, Denia;
Pearce, David A.

Publication type:

Article

TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3751, doi. 10.1093/hmg/ddi405

By:

Morlon, Aurore;
Munnich, Arnold;
Smahi, Asma

Publication type:

Article

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3741, doi. 10.1093/hmg/ddi404

By:

Deutsch, Samuel;
Lyle, Robert;
Dermitzakis, Emmanouil T.;
Attar, Homa;
Subrahmanyan, Lakshman;
Gehrig, Corinne;
Parand, Leila;
Gagnebin, Maryline;
Rougemont, Jacques;
Jongeneel, C. Victor;
Antonarakis, Stylianos E.

Publication type:

Article

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3723, doi. 10.1093/hmg/ddi403

By:

Hermanns, Pia;
Bertuch, Alison A.;
Bertin, Terry K.;
Dawson, Brian;
Schmitt, Mark E.;
Shaw, Chad;
Zabel, Bernhard;
Lee, Brendan

Publication type:

Article

A segment of the Mecp2 promoter is sufficient to drive expression in neurons.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3709, doi. 10.1093/hmg/ddi402

By:

Adachi, Megumi;
Keefer, Edward W.;
Jones, Frederick S.

Publication type:

Article

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3697, doi. 10.1093/hmg/ddi401

By:

Trochet, Delphine;
Hong, Seok Jong;
Lim, Jin Kyu;
Brunet, Jean-François;
Munnich, Arnold;
Kim, Kwang-Soo;
Lyonnet, Stanislas;
Goridis, Christo;
Amiel, Jeanne

Publication type:

Article

An animal model for Charcot–Marie–Tooth disease type 4B1.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3685, doi. 10.1093/hmg/ddi400

By:

Bonneick, Sonja;
Boentert, Matthias;
Berger, Philipp;
Atanasoski, Suzana;
Mantei, Ned;
Wessig, Carsten;
Toyka, Klaus V.;
Young, Peter;
Suter, Ueli

Publication type:

Article

Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3673, doi. 10.1093/hmg/ddi395

By:

Wang, Qishan;
Mosser, Dick D.;
Bag, Jnanankur

Publication type:

Article

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3661, doi. 10.1093/hmg/ddi394

By:

Arocena, Dolores Garcia;
Iwahashi, Christine K.;
Won, Nelly;
Beilina, Alexandra;
Ludwig, Anna L.;
Tassone, Flora;
Schwartz, Philip H.;
Hagerman, Paul J.

Publication type:

Article

RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3643, doi. 10.1093/hmg/ddi392

By:

Lin, Hong;
Zhai, Jinbin;
Schlaepfer, William W.

Publication type:

Article

Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells†This article is dedicated to our colleague Kevin Langton, who died suddenly on 19th December 2004. We all miss his intellect, practical skills and sense ...

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3579, doi. 10.1093/hmg/ddi385

By:

Langton, Kevin P.;
McKie, Norman;
Smith, Brenda M.;
Brown, Nicola J.;
Barker, Michael D.

Publication type:

Article

Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3557, doi. 10.1093/hmg/ddi383

By:

Moumné, Lara;
Fellous, Marc;
Veitia, Reiner A.

Publication type:

Article

Evidence of balancing selection at the HLA-G promoter region.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3619, doi. 10.1093/hmg/ddi389

By:

Tan, Zheng;
Shon, Andrew Minsoo;
Ober, Carole

Publication type:

Article

Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3605, doi. 10.1093/hmg/ddi388

By:

Kist, Ralf;
Watson, Michelle;
Wang, Xiaomeng;
Cairns, Paul;
Miles, Colin;
Reid, Donald J.;
Peters, Heiko

Publication type:

Article

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3587, doi. 10.1093/hmg/ddi386

By:

Meurs, Kathryn M.;
Sanchez, Ximena;
David, Ryan M.;
Bowles, Neil E.;
Towbin, Jeffrey A.;
Reiser, Peter J.;
Kittleson, Judith A.;
Munro, Marcia J.;
Dryburgh, Keith;
MacDonald, Kristin A.;
Kittleson, Mark D.

Publication type:

Article

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3629, doi. 10.1093/hmg/ddi390

By:

Gabanella, Francesca;
Carissimi, Claudia;
Usiello, Alessandro;
Pellizzoni, Livio

Publication type:

Article

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3565, doi. 10.1093/hmg/ddi384

By:

Ferrer, Isidre;
Kapfhammer, Josef P.;
Hindelang, Colette;
Kemp, Stephan;
Troffer-Charlier, Nathalie;
Broccoli, Vania;
Callyzot, Noëlle;
Mooyer, Petra;
Selhorst, Jacqueline;
Vreken, Peter;
Wanders, Ronald J.A.;
Mandel, Jean Louis;
Pujol, Aurora

Publication type:

Article

Polymorphism discovery in 51 chemotherapy pathway genes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3595, doi. 10.1093/hmg/ddi387

By:

Freimuth, Robert R.;
Xiao, Ming;
Marsh, Sharon;
Minton, Matthew;
Addleman, Nicholas;
Van Booven, Derek J.;
McLeod, Howard L.;
Kwok, Pui-Yan

Publication type:

Article

Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3549, doi. 10.1093/hmg/ddi376

By:

Skipper, Lisa;
Li, Yi;
Bonnard, Carine;
Pavanni, Ratnagopal;
Yih, Yuen;
Chua, Eva;
Sung, Wing-Kin;
Tan, Louis;
Wong, Meng-Cheong;
Tan, Eng-King;
Liu, Jianjun

Publication type:

Article