Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 2

Results: 28

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 189, doi. 10.1093/hmg/ddg020

By:

Salmikangas, Paula;
van der Ven, Peter F. M.;
Lalowski, Maciej;
Taivainen, Anu;
Fang Zhao;
Suila, Heli;
Schröder, Rolf;
Lappalainen, Pekka;
Fürst, Dieter O.;
Carpén, Olli

Publication type:

Article

A central role of interferon regulatory factor-1 for the limitation of neointimal hyperplasia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 177, doi. 10.1093/hmg/12.2.177

By:

Wessely, Rainer;
Hengst, Ludger;
Jaschke, Birgit;
Wegener, Franziska;
Richter, Thomas;
Lupetti, Raffaella;
Paschalidis, Makarios;
Schömig, Albert;
Brandl, Richard;
Neumann, Franz-Josef

Publication type:

Article

Interaction of αPIX (ARHGEF6) with β-parvin (PARVB) suggests an involvement of αPIX in integrin-mediated signaling.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 155, doi. 10.1093/hmg/12.2.155

By:

Rosenberger, Georg;
Jantke, Inka;
Gal, Andreas;
Kutsche, Kerstin

Publication type:

Article

Human BOULE gene rescues meiotic defects in infertile flies.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 169, doi. 10.1093/hmg/ddg017

By:

Xu, Eugene Yujun;
Lee, Douglas F.;
Klebes, Ansgar;
Turek, Paul J.;
Kornberg, Tom B.;
Reijo Pera, Renee A.

Publication type:

Article

Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 99, doi. 10.1093/hmg/ddg011

By:

Lamba, Jatinder Kaur;
Adachi, Masashi;
Daxi Sun;
Tammur, Jaana;
Schuetz, Erin G.;
Allikmets, Rando;
Schuetz, John D.

Publication type:

Article

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 87, doi. 10.1093/hmg/12.2.87

By:

Murdoch, Jennifer N.;
Henderson, Deborah J.;
Doudney, Kit;
Gaston-Massuet, Carles;
Phillips, Helen M.;
Paternotte, Caroline;
Arkell, Ruth;
Stanier, Philip;
Copp, Andrew J.

Publication type:

Article

Intramembrane-cleaving aspartic proteases and disease: presenilins, signal peptide peptidase and their homologs.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 201, doi. 10.1093/hmg/ddg303

By:

Martoglio, Bruno;
Golde, Todd E.

Publication type:

Article

Recent advances in the genetics of schizophrenia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 125, doi. 10.1093/hmg/ddg302

By:

O'Donovan, Michael C.;
Williams, Nigel M.;
Owen, Michael J.

Publication type:

Article

Williams–Beuren syndrome: a challenge for genotype–phenotype correlations.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 229, doi. 10.1093/hmg/ddg299

By:

Tassabehji, M.

Publication type:

Article

A fragile balance: FMR1 expression levels.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 249, doi. 10.1093/hmg/ddg298

By:

Oostra, Ben A.;
Willemsen, Rob

Publication type:

Article

The potential role of gene duplications in the evolution of imprinting mechanisms.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 215, doi. 10.1093/hmg/ddg296

By:

Walter, Jörn;
Paulsen, Martina

Publication type:

Article

Pathogenesis of polyglutamine disorders: aggregation revisited.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 173, doi. 10.1093/hmg/ddg295

By:

Michalik, Andrej;
Van Broeckhoven, Christine

Publication type:

Article

Towards integrated clinico-genomic models for personalized medicine: combining gene expression signatures and clinical factors in breast cancer outcomes prediction.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 153, doi. 10.1093/hmg/ddg287

By:

Nevins, Joseph R.;
Huang, Erich S.;
Dressman, Holly;
Pittman, Jennifer;
Huang, Andrew T.;
West, Mike

Publication type:

Article

PTEN: tumour suppressor, multifunctional growth regulator and more.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 239, doi. 10.1093/hmg/ddg288

By:

Goberdhan, Deborah C.I.;
Wilson, Clive

Publication type:

Article

DNA methylation and Rett syndrome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 221, doi. 10.1093/hmg/ddg286

By:

Kriaucionis, Skirmantas;
Bird, Adrian

Publication type:

Article

Disorders of mitochondrial protein synthesis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 293, doi. 10.1093/hmg/ddg285

By:

Jacobs, Howard T.

Publication type:

Article

The zebrafish as a model for muscular dystrophy and congenital myopathy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 265, doi. 10.1093/hmg/ddg279

By:

Bassett, David I.;
Currie, Peter D.

Publication type:

Article

Proteomics of heart disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 135, doi. 10.1093/hmg/ddg278

By:

McGregor, Emma;
Dunn, Michael J.

Publication type:

Article

Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 195, doi. 10.1093/hmg/ddg276

By:

Molinari, Florence;
Meskanaite, Virginia;
Munnich, Arnold;
Sonderegger, Peter;
Colleaux, Laurence

Publication type:

Article

Therapeutic gene silencing in the nervous system.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 279, doi. 10.1093/hmg/ddg275

By:

Wood, Matthew J.A.;
Trülzsch, Barbara;
Abdelgany, Amr;
Beeson, David

Publication type:

Article

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 285, doi. 10.1093/hmg/ddg273

By:

Laporte, Jocelyn;
Bedez, Florence;
Bolino, Alessandra;
Mandel, Jean-Louis

Publication type:

Article

Glycosylation defects: a new mechanism for muscular dystrophy?

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 259, doi. 10.1093/hmg/ddg272

By:

Grewal, Prabhjit K.;
Hewitt, Jane E.

Publication type:

Article

Fly models of Huntington's disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 187, doi. 10.1093/hmg/ddg271

By:

Marsh, J. Lawrence;
Pallos, Judit;
Thompson, Leslie M.

Publication type:

Article

Genomic microarrays in human genetic disease and cancer.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 145, doi. 10.1093/hmg/ddg261

By:

Albertson, Donna G.;
Pinkel, Daniel

Publication type:

Article

Perturbations of chromatin structure in human genetic disease: recent advances.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 207, doi. 10.1093/hmg/ddg260

By:

Bickmore, Wendy A.;
van der Maarel, Silvère M.

Publication type:

Article

Exposing the MYtH about base excision repair and human inherited disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 159, doi. 10.1093/hmg/ddg259

By:

Cheadle, Jeremy P.;
Sampson, Julian R.

Publication type:

Article

Of mice and (wo)men: genotype–phenotype correlations in BRCA1.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 271, doi. 10.1093/hmg/ddg258

By:

Hohenstein, Peter;
Fodde, Riccardo

Publication type:

Article

The Newfoundland population: a unique resource for genetic investigation of complex diseases†Newfound Genomics is a private genomics company based in Newfoundland. Sylvia Bartlett and Lynette Peddle are laboratory scientists at Newfound Genomics. Dr ...

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 167, doi. 10.1093/hmg/ddg257

By:

Rahman, Proton;
Jones, Albert;
Curtis, Joseph;
Bartlett, Sylvia;
Peddle, Lynette;
Fernandez, Bridget A.;
Freimer, Nelson B.

Publication type:

Article