Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 24

Results: 22

Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3197, doi. 10.1093/hmg/ddm307

By:

Merriman, Tony;
Twells, Rebecca;
Merriman, Marilyn;
Eaves, Iain;
Cox, Roger;
Cucca, Francesco;
McKinney, Patricia;
Shield, Julian;
Baum, David;
Bosi, Emanuele;
Pozzilli, Paolo;
Nisticò, Lorenza;
Buzzetti, Raffaella;
Joner, Geir;
Rønningen, Kjersti S.;
Thorsby, Erik;
Undlien, Dag;
Pociot, Flemming;
Nerup, Jørn;
Bain, Stephen

Publication type:

Article

Translation of SOX10 3′ untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3037, doi. 10.1093/hmg/ddm262

By:

Inoue, Ken;
Ohyama, Tomoko;
Sakuragi, Yosuke;
Yamamoto, Ryoko;
Inoue, Naoko A.;
Li-Hua, Yu;
Goto, Yu-ichi;
Wegner, Michael;
Lupski, James R.

Publication type:

Article

Succinate inhibition of α-ketoglutarate-dependent enzymes in a yeast model of paraganglioma.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3136, doi. 10.1093/hmg/ddm275

By:

Smith, Emily H.;
Janknecht, Ralf;
Maher, L. James

Publication type:

Article

Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 2991, doi. 10.1093/hmg/ddm257

By:

Tersar, Kristian;
Boentert, Matthias;
Berger, Philipp;
Bonneick, Sonja;
Wessig, Carsten;
Toyka, Klaus V.;
Young, Peter;
Suter, Ueli

Publication type:

Article

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3188, doi. 10.1093/hmg/ddm299

By:

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

Publication type:

Article

The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3047, doi. 10.1093/hmg/ddm263

By:

Davidovic, Laetitia;
Jaglin, Xavier H.;
Lepagnol-Bestel, Aude-Marie;
Tremblay, Sandra;
Simonneau, Michel;
Bardoni, Barbara;
Khandjian, Edouard W.

Publication type:

Article

An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3002, doi. 10.1093/hmg/ddm258

By:

Deguara, Jean;
Burnand, Kevin G.;
Berg, Jonathan;
Green, Peter;
Lewis, Cathryn M.;
Chinien, Ganesh;
Waltham, Matthew;
Taylor, Peter;
Stern, Rachel F.;
Solomon, Ellen;
Smith, Alberto

Publication type:

Article

Paternal age at birth is an important determinant of offspring telomere length.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3097

By:

De Meyer, Tim;
Rietzschel, Ernst R.;
De Buyzere, Marc L.;
De Bacquer, Dirk;
Van Criekinge, Wim;
De Backer, Guy G.;
Gillebert, Thierry C.;
Van Oostveldt, Patrick;
Bekaert, Sofie

Publication type:

Article

Heterozygosity of mannose-binding lectin (MBL2) genotypes predicts advantage (heterosis) in relation to fatal outcome in intensive care patients.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3071, doi. 10.1093/hmg/ddm265

By:

Hellemann, Dorthe;
Larsson, Anders;
Madsen, Hans O.;
Bonde, Jan;
Jarløv, Jens Otto;
Wiis, Jørgen;
Faber, Torsten;
Wetterslev, Jørn;
Garred, Peter

Publication type:

Article

Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3017, doi. 10.1093/hmg/ddm260

By:

Yanagiya, Takahiro;
Tanabe, Atsushi;
Iida, Aritoshi;
Saito, Susumu;
Sekine, Akihiro;
Takahashi, Atsushi;
Tsunoda, Tatsuhiko;
Kamohara, Seika;
Nakata, Yoshio;
Kotani, Kazuaki;
Komatsu, Ryoya;
Itoh, Naoto;
Mineo, Ikuo;
Wada, Jun;
Masuzaki, Hiroaki;
Yoneda, Masato;
Nakajima, Atsushi;
Miyazaki, Shigeru;
Tokunaga, Katsuto;
Kawamoto, Manabu

Publication type:

Article

Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3198, doi. 10.1093/hmg/ddm308

By:

Reed, Peter;
Cucca, Francesco;
Jenkins, Suzanne;
Merriman, Marilyn;
Wilson, Amanda;
McKinney, Patricia;
Bosi, Emanuele;
Joner, Geir;
Rønningen, Kjersti S.;
Thorsby, Erik;
Undlien, Dag;
Merriman, Tony;
Barnett, Anthony;
Bain, Stephen;
Todd, John

Publication type:

Article

Somatic acquisition of TGFBR1*6A by epithelial and stromal cells during head and neck and colon cancer development.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3128, doi. 10.1093/hmg/ddm274

By:

Bian, Yansong;
Knobloch, Thomas J.;
Sadim, Maureen;
Kaklamani, Virginia;
Raji, Adekunle;
Yang, Guang-Yu;
Weghorst, Christopher M.;
Pasche, Boris

Publication type:

Article

Functional characterization of NF-κB inhibitor-like protein 1 (NFκBIL1), a candidate susceptibility gene for rheumatoid arthritis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3027, doi. 10.1093/hmg/ddm261

By:

Greetham, Darren;
Ellis, Charles D.;
Mewar, Devesh;
Fearon, Ursula;
Ultaigh, Sinead Nic an;
Veale, Douglas J.;
Guesdon, François;
Wilson, Anthony G.

Publication type:

Article

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3174, doi. 10.1093/hmg/ddm293

By:

Ladd, Paula D.;
Smith, Leslie E.;
Rabaia, Natalia A.;
Moore, James M.;
Georges, Sara A.;
Hansen, R. Scott;
Hagerman, Randi J.;
Tassone, Flora;
Tapscott, Stephen J.;
Filippova, Galina N.

Publication type:

Article

An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3160, doi. 10.1093/hmg/ddm279

By:

Franke, Josef D.;
Montague, Ruth A.;
Rickoll, Wayne L.;
Kiehart, Daniel P.

Publication type:

Article

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3149, doi. 10.1093/hmg/ddm276

By:

Kashima, Tsuyoshi;
Rao, Nishta;
David, Charles J.;
Manley, James L.

Publication type:

Article

Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot–Marie–Tooth disease-linked mutations in NFL and HSPB1.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3103, doi. 10.1093/hmg/ddm272

By:

Zhai, Jinbin;
Lin, Hong;
Julien, Jean-Pierre;
Schlaepfer, William W.

Publication type:

Article

Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3059, doi. 10.1093/hmg/ddm264

By:

McLaughlin, Precious J.;
Bakall, Benjamin;
Choi, Jiwon;
Liu, Zhonglin;
Sasaki, Takako;
Davis, Elaine C.;
Marmorstein, Alan D.;
Marmorstein, Lihua Y.

Publication type:

Article

Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3117, doi. 10.1093/hmg/ddm273

By:

Hayden, Patrick J.;
Tewari, Prerna;
Morris, Derek W.;
Staines, Anthony;
Crowley, Dominique;
Nieters, Alexandra;
Becker, Nikolaus;
de Sanjosé, Silvia;
Foretova, Lenka;
Maynadié, Marc;
Cocco, Pier Luigi;
Boffetta, Paolo;
Brennan, Paul;
Chanock, Stephen J.;
Browne, Paul V.;
Lawler, Mark

Publication type:

Article

Expansions of CAG·CTG repeats in immortalized human astrocytes.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3088, doi. 10.1093/hmg/ddm270

By:

Claassen, David A.;
Lahue, Robert S.

Publication type:

Article

An insertion–deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3008, doi. 10.1093/hmg/ddm259

By:

Dideberg, Vinciane;
Kristjansdottir, Gudlaug;
Milani, Lili;
Libioulle, Cécile;
Sigurdsson, Snaevar;
Louis, Edouard;
Wiman, Ann-Christin;
Vermeire, Séverine;
Rutgeerts, Paul;
Belaiche, Jacques;
Franchimont, Denis;
Van Gossum, André;
Bours, Vincent;
Syvänen, Ann-Christine

Publication type:

Article

BNP is a transcriptional target of the short stature homeobox gene SHOX.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3081, doi. 10.1093/hmg/ddm266

By:

Marchini, Antonio;
Häcker, Beate;
Marttila, Tiina;
Hesse, Volker;
Emons, Joyce;
Weiss, Birgit;
Karperien, Marcel;
Rappold, Gudrun

Publication type:

Article