Works in Human Molecular Genetics, 2002, Vol 11, Issue 7

Results: 14

Novel ENU-induced eye mutations in the mouse: models for human eye disease.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 755, doi. 10.1093/hmg/11.7.755

By:

Thaung, Caroline;
West, Katrine;
Clark, Brian J.;
McKie, Lisa;
Morgan, Joanne E.;
Arnold, Karen;
Nolan, Patrick M.;
Peters, Jo;
Hunter, A. Jackie;
Brown, Steve D. M.;
Jackson, Ian J.;
Cross, Sally H.

Publication type:

Article

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 823, doi. 10.1093/hmg/11.7.823

By:

Spuy, Jacqueline van der;
Chapple, J. Paul;
Clark, Brian J.;
Luthert, Philip J.;
Sethi, Charanjit S.;
Cheetham, Michael E.

Publication type:

Article

Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 841, doi. 10.1093/hmg/11.7.841

By:

Warren, Madhuri;
Smith, Amanda;
Partridge, Natalie;
Masabanda, Julio;
Griffin, Darren;
Ashworth, Alan

Publication type:

Article

Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 733, doi. 10.1093/hmg/11.7.733

By:

Fabb, Stewart A.;
Wells, Dominic J.;
Serpente, Patricia;
Dickson, George

Publication type:

Article

A molecular basis for differential developmental anomalies in Axenfeld–Rieger syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 743, doi. 10.1093/hmg/11.7.743

By:

Espinoza, Herbert M.;
Cox, Carol J.;
Semina, Elena V.;
Amendt, Brad A.

Publication type:

Article

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 769, doi. 10.1093/hmg/11.7.769

By:

Lloyd, David J.;
Trembath, Richard C.;
Shackleton, Sue

Publication type:

Article

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 799, doi. 10.1093/hmg/11.7.799

By:

Duijf, Pascal H. G.;
Vanmolkot, Kaate R. J.;
Propping, Peter;
Friedl, Waltraut;
Krieger, Elmar;
McKeon, Frank;
Dötsch, Volker;
Brunner, Han G.;
Bokhoven, Hans van

Publication type:

Article

Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 815, doi. 10.1093/hmg/11.7.815

By:

Shoichet, Sarah A.;
Bäumer, Anselm T.;
Stamenkovic, Djordje;
Sauer, Heinrich;
Pfeiffer, Andreas F. H.;
Kahn, C. Ronald;
Müller-Wieland, Dirk;
Richter, Christoph;
Ristow, Michael

Publication type:

Article

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 805, doi. 10.1093/hmg/11.7.805

By:

Fardaei, Majid;
Rogers, Mark T.;
Thorpe, Helena M.;
Larkin, Kenneth;
Hamshere, Marion G.;
Harper, Peter S.;
Brook, J. David

Publication type:

Article

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 833, doi. 10.1093/hmg/11.7.833

By:

Hamada, Takahiro;
McLean, W. H. Irwin;
Ramsay, Michele;
Ashton, Gabrielle H. S.;
Nanda, Arti;
Jenkins, Trefor;
Edelstein, Isobel;
South, Andrew P.;
Bleck, Oliver;
Wessagowit, Vesarat;
Mallipeddi, Rajeev;
Orchard, Guy E.;
Wan, Hong;
Dopping-Hepenstal, Patricia J. C.;
Mellerio, Jemima E.;
Whittock, Neil V.;
Munro, Colin S.;
van Steensel, Maurice A. M.;
Steijlen, Peter M.;
Ni, Jian

Publication type:

Article

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB).

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 853, doi. 10.1093/hmg/11.7.853

By:

Rees, Mark I.;
Lewis, Trevor M.;
Kwok, John B. J.;
Mortier, Geert R.;
Govaert, Paul;
Snell, Russell G.;
Schofield, Peter R.;
Owen, Michael J.

Publication type:

Article

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 779, doi. 10.1093/hmg/11.7.779

By:

Marr, Nannette;
Bichet, Daniel G;
Lonergan, Michele;
Arthus, Marie-Francoise;
Jeck, Nikola;
Seyberth, Hannsjörg W.;
Rosenthal, Walter;
van Os, Carel H.;
Oksche, Alexander;
Deen, Peter M. T.

Publication type:

Article

Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 723, doi. 10.1093/hmg/11.7.723

By:

Bitondo, Rosa Di;
Hall, Adrian J.;
Peake, Ian R.;
Iacoviello, Licia;
Winship, Peter R.

Publication type:

Article

Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 791, doi. 10.1093/hmg/11.7.791

By:

Zhang, Yun;
Monckton, Darren G.;
Siciliano, Michael J.;
Connor, Thomas H.;
Meistrich, Marvin L.

Publication type:

Article