Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 14

Results: 23

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 14, p. NP, doi. 10.1093/hmg/ddp246
Publication type:: Article

The role of N-acetylglucosaminyltransferase III and V in the post-transcriptional modifications of E-cadherin.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2599, doi. 10.1093/hmg/ddp194

By:

Pinho, Salomé S.;
Reis, Celso A.;
Paredes, Joana;
Magalhães, Ana Maria;
Ferreira, António Carlos;
Figueiredo, Joana;
Xiaogang, Wen;
Carneiro, Fátima;
Gärtner, Fátima;
Seruca, Raquel

Publication type:

Article

The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2609, doi. 10.1093/hmg/ddp195

By:

Ota, Sara;
Zhou, Zi-Qiang;
Link, Jason M.;
Hurlin, Peter J.

Publication type:

Article

Renal injury is a third hit promoting rapid development of adult polycystic kidney disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2523, doi. 10.1093/hmg/ddp147

By:

Takakura, Ayumi;
Contrino, Leah;
Zhou, Xiangzhi;
Bonventre, Joseph V.;
Sun, Yanping;
Humphreys, Benjamin D.;
Zhou, Jing

Publication type:

Article

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2543, doi. 10.1093/hmg/ddp186

By:

Anastasaki, Corina;
Estep, Anne L.;
Marais, Richard;
Rauen, Katherine A.;
Patton, E. Elizabeth

Publication type:

Article

Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2632, doi. 10.1093/hmg/ddp201

By:

Richardson, Rebecca J.;
Dixon, Jill;
Jiang, Rulang;
Dixon, Michael J.

Publication type:

Article

Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2670, doi. 10.1093/hmg/ddp208

By:

Cotney, Justin;
McKay, Sharen E.;
Shadel, Gerald S.

Publication type:

Article

Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2584

By:

Li, Hong;
Mittal, Ashwani;
Makonchuk, Denys Y.;
Bhatnagar, Shephali;
Kumar, Ashok

Publication type:

Article

Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2532, doi. 10.1093/hmg/ddp190

By:

Happé, Hester;
Leonhard, Wouter N.;
van der Wal, Annemieke;
van de Water, Bob;
Lantinga-van Leeuwen, Irma S.;
Breuning, Martijn H.;
de Heer, Emile;
Peters, Dorien J.M.

Publication type:

Article

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2643, doi. 10.1093/hmg/ddp206

By:

Coccia, Margherita;
Brooks, Simon P.;
Webb, Tom R.;
Christodoulou, Katja;
Wozniak, Izabella O.;
Murday, Victoria;
Balicki, Martha;
Yee, Harris A.;
Wangensteen, Teresia;
Riise, Ruth;
Saggar, Anand K.;
Park, Soo-Mi;
Kanuga, Naheed;
Francis, Peter J.;
Maher, Eamonn R.;
Moore, Anthony T.;
Russell-Eggitt, Isabelle M.;
Hardcastle, Alison J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 14, p. NP, doi. 10.1093/hmg/ddp244
Publication type:: Article

Characterization of six human disease-associated inversion polymorphisms.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2555, doi. 10.1093/hmg/ddp187

By:

Antonacci, Francesca;
Kidd, Jeffrey M.;
Marques-Bonet, Tomas;
Ventura, Mario;
Siswara, Priscillia;
Jiang, Zhaoshi;
Eichler, Evan E.

Publication type:

Article

Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2622, doi. 10.1093/hmg/ddp196

By:

Liu, Yan;
Wang, Yin;
Wu, Cindy;
Liu, Yang;
Zheng, Pan

Publication type:

Article

Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2656, doi. 10.1093/hmg/ddp207

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Liehr, Thomas;
Kolotii, Alexei D.;
Yurov, Yuri B.

Publication type:

Article

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2575, doi. 10.1093/hmg/ddp189

By:

Khelfaoui, Malik;
Pavlowsky, Alice;
Powell, Andrew D.;
Valnegri, Pamela;
Cheong, Kenneth W.;
Blandin, Yann;
Passafaro, Maria;
Jefferys, John G.R.;
Chelly, Jamel;
Billuart, Pierre

Publication type:

Article

Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2683, doi. 10.1093/hmg/ddp192

By:

Fry, Andrew E.;
Ghansa, Anita;
Small, Kerrin S.;
Palma, Alejandro;
Auburn, Sarah;
Diakite, Mahamadou;
Green, Angela;
Campino, Susana;
Teo, Yik Y.;
Clark, Taane G.;
Jeffreys, Anna E.;
Wilson, Jonathan;
Jallow, Muminatou;
Sisay-Joof, Fatou;
Pinder, Margaret;
Griffiths, Michael J.;
Peshu, Norbert;
Williams, Thomas N.;
Newton, Charles R.;
Marsh, Kevin

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 14, p. NP, doi. 10.1093/hmg/ddp245
Publication type:: Article

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2711, doi. 10.1093/hmg/ddp203

By:

Sanna, Serena;
Busonero, Fabio;
Maschio, Andrea;
McArdle, Patrick F.;
Usala, Gianluca;
Dei, Mariano;
Lai, Sandra;
Mulas, Antonella;
Piras, Maria Grazia;
Perseu, Lucia;
Masala, Marco;
Marongiu, Mara;
Crisponi, Laura;
Naitza, Silvia;
Galanello, Renzo;
Abecasis, Gonçalo R.;
Shuldiner, Alan R.;
Schlessinger, David;
Cao, Antonio;
Uda, Manuela

Publication type:

Article

Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2693

By:

Orozco, Gisela;
Hinks, Anne;
Eyre, Steve;
Ke, Xiayi;
Gibbons, Laura J.;
Bowes, John;
Flynn, Edward;
Martin, Paul;
Wilson, Anthony G.;
Bax, Deborah E.;
Morgan, Ann W.;
Emery, Paul;
Steer, Sophia;
Hocking, Lynne;
Reid, David M.;
Wordsworth, Paul;
Harrison, Pille;
Thomson, Wendy;
Barton, Anne;
Worthington, Jane

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 14, p. NP, doi. 10.1093/hmg/ddp247
Publication type:: Article

Chromatin analysis of occluded genes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2567, doi. 10.1093/hmg/ddp188

By:

Lee, Jae Hyun;
Gaetz, Jedidiah;
Bugarija, Branimir;
Fernandes, Croydon J.;
Snyder, Gregory E.;
Bush, Eliot C.;
Lahn, Bruce T.

Publication type:

Article

Genome-wide association meta-analysis for total serum bilirubin levels.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2700, doi. 10.1093/hmg/ddp202

By:

Johnson, Andrew D.;
Kavousi, Maryam;
Smith, Albert V.;
Chen, Ming-Huei;
Dehghan, Abbas;
Aspelund, Thor;
Lin, Jing-Ping;
van Duijn, Cornelia M.;
Harris, Tamara B.;
Cupples, L. Adrienne;
Uitterlinden, Andre G.;
Launer, Lenore;
Hofman, Albert;
Rivadeneira, Fernando;
Stricker, Bruno;
Yang, Qiong;
O'Donnell, Christopher J.;
Gudnason, Vilmundur;
Witteman, Jacqueline C.

Publication type:

Article

The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 14, p. 2719, doi. 10.1093/hmg/ddp204

By:

Schumacher, Johannes;
Laje, Gonzalo;
Jamra, Rami Abou;
Becker, Tim;
Mühleisen, Thomas W.;
Vasilescu, Catalina;
Mattheisen, Manuel;
Herms, Stefan;
Hoffmann, Per;
Hillmer, Axel M.;
Georgi, Alexander;
Herold, Christine;
Schulze, Thomas G.;
Propping, Peter;
Rietschel, Marcella;
McMahon, Francis J.;
Nöthen, Markus M.;
Cichon, Sven

Publication type:

Article