Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 19

Results: 24

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3605, doi. 10.1093/hmg/ddp308

By:

Chauvin, Angélique;
Chen, Jian-Min;
Quemener, Sylvia;
Masson, Emmanuelle;
Kehrer-Sawatzki, Hildegard;
Ohmle, Barbara;
Cooper, David N.;
Le Maréchal, Cédric;
Férec, Claude

Publication type:

Article

Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3739, doi. 10.1093/hmg/ddp301

By:

Sánchez, Elena;
Palomino-Morales, Rogelio J.;
Ortego-Centeno, Norberto;
Jiménez-Alonso, Juan;
González-Gay, Miguel A.;
López-Nevot, Miguel A.;
Sánchez-Román, Julio;
de Ramón, Enrique;
González-Escribano, M. Francisca;
Pons-Estel, Bernardo A.;
D'Alfonso, Sandra;
Sebastiani, Gian Domenico;
Alarcón-Riquelme, Marta E.;
Martín, Javier

Publication type:

Article

Antagonistic SR proteins regulate alternative splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3696

By:

Gonçalves, Vânia;
Matos, Paulo;
Jordan, Peter

Publication type:

Article

Inactive X chromosome-specific reduction in placental DNA methylation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3544, doi. 10.1093/hmg/ddp299

By:

Cotton, Allison M.;
Avila, Luana;
Penaherrera, Maria S.;
Affleck, Joslynn G.;
Robinson, Wendy P.;
Brown, Carolyn J.

Publication type:

Article

Protein kinase Cγ, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3533, doi. 10.1093/hmg/ddp298

By:

Asai, Hirohide;
Hirano, Makito;
Shimada, Keiji;
Kiriyama, Takao;
Furiya, Yoshiko;
Ikeda, Masanori;
Iwamoto, Takaaki;
Mori, Toshio;
Nishinaka, Kazuto;
Konishi, Noboru;
Udaka, Fukashi;
Ueno, Satoshi

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp374
Publication type:: Article

Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3725, doi. 10.1093/hmg/ddp300

By:

Sieh, Weiva;
Choi, Yoonha;
Chapman, Nicola H.;
Craig, Ulla-Katrina;
Steinbart, Ellen J.;
Rothstein, Joseph H.;
Oyanagi, Kiyomitsu;
Garruto, Ralph M.;
Bird, Thomas D.;
Galasko, Douglas R.;
Schellenberg, Gerard D.;
Wijsman, Ellen M.

Publication type:

Article

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3659

By:

Wu, Zhihao;
Li, Chenghua;
Lv, Shan;
Zhou, Bing

Publication type:

Article

Rac1 and Rho contribute to the migratory and invasive phenotype associated with somatic E-cadherin mutation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3632, doi. 10.1093/hmg/ddp312

By:

Deplazes, Joëlle;
Fuchs, Margit;
Rauser, Sandra;
Genth, Harald;
Lengyel, Ernst;
Busch, Raymonde;
Luber, Birgit

Publication type:

Article

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3673, doi. 10.1093/hmg/ddp315

By:

Ramsay, Andrew J.;
Quesada, Victor;
Sanchez, Mayka;
Garabaya, Cecilia;
Sardà, María P.;
Baiget, Montserrat;
Remacha, Angel;
Velasco, Gloria;
López-Otín, Carlos

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp375
Publication type:: Article

Generation of an epigenetic signature by chronic hypoxia in prostate cells.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3594, doi. 10.1093/hmg/ddp307

By:

Watson, Jenny A.;
Watson, Chris J.;
McCrohan, Ann-Maria;
Woodfine, Kathryn;
Tosetto, Miriam;
McDaid, Jennifer;
Gallagher, Emma;
Betts, David;
Baugh, John;
O'Sullivan, Jacintha;
Murrell, Adele;
Watson, R. William G.;
McCann, Amanda

Publication type:

Article

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3579, doi. 10.1093/hmg/ddp306

By:

Vissers, Lisenka E.L.M.;
Bhatt, Samarth S.;
Janssen, Irene M.;
Xia, Zhilian;
Lalani, Seema R.;
Pfundt, Rolph;
Derwinska, Katarzyna;
de Vries, Bert B.A.;
Gilissen, Christian;
Hoischen, Alexander;
Nesteruk, Monika;
Wisniowiecka-Kowalnik, Barbara;
Smyk, Marta;
Brunner, Han G.;
Cheung, Sau Wai;
van Kessel, Ad Geurts;
Veltman, Joris A.;
Stankiewicz, Pawel

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp376
Publication type:: Article

A genome-wide association study of acenocoumarol maintenance dosage.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3758, doi. 10.1093/hmg/ddp309

By:

Teichert, Martina;
Eijgelsheim, Mark;
Rivadeneira, Fernando;
Uitterlinden, Andrė G.;
van Schaik, Ron H.N.;
Hofman, Albert;
De Smet, Peter A.G.M.;
van Gelder, Teun;
Visser, Loes E.;
Stricker, Bruno H.Ch.

Publication type:

Article

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3645, doi. 10.1093/hmg/ddp313

By:

Garbes, Lutz;
Riessland, Markus;
Hölker, Irmgard;
Heller, Raoul;
Hauke, Jan;
Tränkle, Christian;
Coras, Roland;
Blümcke, Ingmar;
Hahnen, Eric;
Wirth, Brunhilde

Publication type:

Article

A functional genetic study identifies HAND1 mutations in septation defects of the human heart.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3567, doi. 10.1093/hmg/ddp305

By:

Reamon-Buettner, Stella Marie;
Ciribilli, Yari;
Traverso, Ilaria;
Kuhls, Beate;
Inga, Alberto;
Borlak, Juergen

Publication type:

Article

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3708, doi. 10.1093/hmg/ddp318

By:

Kitamura, Kunio;
Itou, Yukiko;
Yanazawa, Masako;
Ohsawa, Maki;
Suzuki-Migishima, Rika;
Umeki, Yuko;
Hohjoh, Hirohiko;
Yanagawa, Yuchio;
Shinba, Toshikazu;
Itoh, Masayuki;
Nakamura, Kenji;
Goto, Yu-ichi

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp377
Publication type:: Article

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3615, doi. 10.1093/hmg/ddp310

By:

Boon, Kum-Loong;
Xiao, Shu;
McWhorter, Michelle L.;
Donn, Thomas;
Wolf-Saxon, Emma;
Bohnsack, Markus T.;
Moens, Cecilia B.;
Beattie, Christine E.

Publication type:

Article

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626

By:

Dibbens, Leanne M.;
Mullen, Saul;
Helbig, Ingo;
Mefford, Heather C.;
Bayly, Marta A.;
Bellows, Susannah;
Leu, Costin;
Trucks, Holger;
Obermeier, Tanja;
Wittig, Michael;
Franke, Andre;
Caglayan, Hande;
Yapici, Zuhal;
Sander, Thomas;
Eichler, Evan E.;
Scheffer, Ingrid E.;
Mulley, John C.;
Berkovic, Samuel F.

Publication type:

Article

Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3749, doi. 10.1093/hmg/ddp302

By:

Ahn, Jiyoung;
Schumacher, Fredrick R.;
Berndt, Sonja I.;
Pfeiffer, Ruth;
Albanes, Demetrius;
Andriole, Gerald L.;
Ardanaz, Eva;
Boeing, Heiner;
Bueno-de-Mesquita, Bas;
Chanock, Stephen J.;
Clavel-Chapelon, Françoise;
Diver, W. Ryan;
Feigelson, Heather Spencer;
Gaziano, J. Michael;
Giovannucci, Edward;
Haiman, Christopher A.;
Henderson, Brian E.;
Hoover, Robert N.;
Kolonel, Laurence N.;
Kraft, Peter

Publication type:

Article

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3684, doi. 10.1093/hmg/ddp316

By:

Ball, Heather L.;
Zhang, Bing;
Riches, J. Jacob;
Gandhi, Rikesh;
Li, Jing;
Rommens, Johanna M.;
Myers, Jeremy S.

Publication type:

Article

Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 19, p. 3553, doi. 10.1093/hmg/ddp304

By:

Mackenzie, Francesca E.;
Romero, Rosario;
Williams, Debbie;
Gillingwater, Thomas;
Hilton, Helen;
Dick, Jim;
Riddoch-Contreras, Joanna;
Wong, Frances;
Ireson, Lisa;
Powles-Glover, Nicola;
Riley, Genna;
Underhill, Peter;
Hough, Tertius;
Arkell, Ruth;
Greensmith, Linda;
Ribchester, Richard R.;
Blanco, Gonzalo

Publication type:

Article