Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 2

Results: 26

A tumour-derived mutant allele of XRCC2 preferentially suppresses homologous recombination at DNA replication forks.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 203, doi. 10.1093/hmg/ddh022

By:

Mohindra, Atul;
Bolderson, Emma;
Stone, Jason;
Wells, Michael;
Helleday, Thomas;
Meuth, Mark

Publication type:

Article

Cellular genomic reporter assays for screening and evaluation of inducers of fetal hemoglobin.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 223, doi. 10.1093/hmg/ddh023

By:

Vadolas, Jim;
Wardan, Hady;
Orford, Michael;
Williamson, Robert;
Ioannou, Panayiotis A.

Publication type:

Article

Mutant presenilins specifically elevate the levels of the 42 residue β-amyloid peptide in vivo: evidence for augmentation of a 42-specific γ secretase.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 159, doi. 10.1093/hmg/ddh019

By:

Jankowsky, Joanna L.;
Fadale, Daniel J.;
Anderson, Jeffrey;
Xu, Guilian M.;
Gonzales, Victoria;
Jenkins, Nancy A.;
Copeland, Neal G.;
Lee, Michael K.;
Younkin, Linda H.;
Wagner, Steven L.;
Younkin, Steven G.;
Borchelt, David R.

Publication type:

Article

An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 247, doi. 10.1093/hmg/ddh013

By:

Murrell, Adele;
Heeson, Sarah;
Cooper, Wendy N.;
Douglas, Eleanor;
Apostolidou, Sophia;
Moore, Gudrun E.;
Maher, Eamonn R.;
Reik, Wolf

Publication type:

Article

Characterization of ARC, apoptosis repressor interacting with CARD, in normal and dystrophin-deficient skeletal muscle.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 213, doi. 10.1093/hmg/ddh018

By:

Abmayr, S.;
Crawford, R.W.;
Chamberlain, J.S.

Publication type:

Article

Replication timing of the human genome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 191, doi. 10.1093/hmg/ddh016

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

Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 151, doi. 10.1093/hmg/ddh014

By:

Yutaka Ohsawa;
Haruhiro Toko;
Masashi Katsura;
Kazue Morimoto;
Haruki Yamada;
Yaeko Ichikawa;
Tatsufumi Murakami;
Seitaro Ohkuma;
Issei Komuro;
Yoshihide Sunada

Publication type:

Article

Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 171, doi. 10.1093/hmg/ddh020

By:

Na Li;
Kazuhiro Nakamura;
Yi Jiang;
Hiromichi Tsurui;
Shuji Matsuoka;
Masaaki Abe;
Mareki Ohtsuji;
Hiroyuki Nishimura;
Kiyoshi Kato;
Takako Kawai;
Tatsuya Atsumi;
Takao Koike;
Toshikazu Shirai;
Hiroo Ueno;
Sachiko Hirose

Publication type:

Article

Development of an siRNA-based method for repressing specific genes in renal organ culture and its use to show that the Wt1 tumour suppressor is required for nephron differentiation.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 235, doi. 10.1093/hmg/ddh015

By:

Davies, Jamie A.;
Ladomery, Michael;
Hohenstein, Peter;
Michael, Lydia;
Shafe, Anna;
Spraggon, Lee;
Hastie, Nick

Publication type:

Article

Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. 181, doi. 10.1093/hmg/ddh017

By:

Hirotake Hino;
Kimi Araki;
Eiichiro Uyama;
Motohiro Takeya;
Masatake Araki;
Kumiko Yoshinobu;
Koichiro Miike;
Yasuhiro Kawazoe;
Yasushi Maeda;
Makoto Uchino;
Ken-ichi Yamamura

Publication type:

Article

Positive selection on the human genome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r245, doi. 10.1093/hmg/ddh253

By:

Vallender, Eric J.;
Lahn, Bruce T.

Publication type:

Article

Mechanisms of non-Mendelian inheritance in genetic disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r225, doi. 10.1093/hmg/ddh254

By:

van Heyningen, Veronica;
Yeyati, Patricia L.

Publication type:

Article

Genetic disorders influencing lung formation and function at birth.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r207, doi. 10.1093/hmg/ddh252

By:

Whitsett, Jeffrey A.;
Wert, Susan E.;
Trapnell, Bruce C.

Publication type:

Article

Polyalanine expansions in human.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r235, doi. 10.1093/hmg/ddh251

By:

Amiel, Jeanne;
Trochet, Delphine;
Clément-Ziza, Mathieu;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

Thalassemia in Sri Lanka: a progress report.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r203, doi. 10.1093/hmg/ddh250

By:

Premawardhena, Anuja;
de Silva, Shanthimala;
Arambepola, Mahinda;
Olivieri, Nancy;
Merson, Laura;
Muraco, Julia;
Allen, Angela;
Fisher, Christopher;
Peto, Timothy;
Vichinsky, Elliot;
Weatherall, David

Publication type:

Article

The developmental genetics of auditory hair cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r289, doi. 10.1093/hmg/ddh249

By:

Hawkins, R. David;
Lovett, Michael

Publication type:

Article

‘Am not I a fly like thee?’ From genes in fruit flies to behavior in humans.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r267, doi. 10.1093/hmg/ddh248

By:

Greenspan, Ralph J.;
Dierick, Herman A.

Publication type:

Article

An update on the genetics of colorectal cancer.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r177, doi. 10.1093/hmg/ddh247

By:

Kemp, Zoe;
Thirlwell, Cristina;
Sieber, Oliver;
Silver, Andrew;
Tomlinson, Ian

Publication type:

Article

Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r303, doi. 10.1093/hmg/ddh231

By:

Scherer, Stephen W.;
Green, Eric D.

Publication type:

Article

Applications of genomic microarrays to explore human chromosome structure and function.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r297, doi. 10.1093/hmg/ddh230

By:

Carter, Nigel P.;
Vetrie, David

Publication type:

Article

Exploiting human–fish genome comparisons for deciphering gene regulation.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r261, doi. 10.1093/hmg/ddh229

By:

Ahituv, Nadav;
Rubin, Edward M.;
Nobrega, Marcelo A.

Publication type:

Article

Environmental genomics: a key to understanding biology, pathophysiology and disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r217, doi. 10.1093/hmg/ddh228

By:

Schwartz, David A.;
Freedman, Jonathan H.;
Linney, Elwood A.

Publication type:

Article

Allele-specific gene expression differences in humans.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r255, doi. 10.1093/hmg/ddh227

By:

Buckland, Paul R.

Publication type:

Article

Molecular genetics of distal hereditary motor neuropathies.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r195, doi. 10.1093/hmg/ddh226

By:

Irobi, Joy;
De Jonghe, Peter;
Timmerman, Vincent

Publication type:

Article

Genetics of infectious diseases.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r187, doi. 10.1093/hmg/ddh225

By:

Frodsham, Angela J.;
Hill, Adrian V.S.

Publication type:

Article

RNA interference: from model organisms towards therapy for neural and neuromuscular disorders.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 2, p. r275, doi. 10.1093/hmg/ddh224

By:

Buckingham, Steven D.;
Esmaeili, Behrooz;
Wood, Matthew;
Sattelle, David B.

Publication type:

Article