Works in Human Molecular Genetics, 2011, Vol 20, Issue 14

Results: 22

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 14, p. NP, doi. 10.1093/hmg/ddr254
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 14, p. NP, doi. 10.1093/hmg/ddr256
Publication type:: Article

Identification of DNA methylation markers for lineage commitment of in vitro hepatogenesis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2722, doi. 10.1093/hmg/ddr171

By:

Kim, Mirang;
Kang, Tae-Wook;
Lee, Han-Chul;
Han, Yong-Mahn;
Kim, Hyemin;
Shin, Hyoung Doo;
Cheong, Hyun Sub;
Lee, Daeyoup;
Kim, Seon-Young;
Kim, Yong Sung

Publication type:

Article

Huntingtin affinity for partners is not changed by polyglutamine length: aggregation itself triggers aberrant interactions.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2795, doi. 10.1093/hmg/ddr178

By:

Davranche, Aurélien;
Aviolat, Hubert;
Zeder-Lutz, Gabrielle;
Busso, Didier;
Altschuh, Danièle;
Trottier, Yvon;
Klein, Fabrice A.C.

Publication type:

Article

A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2861, doi. 10.1093/hmg/ddr169

By:

Li, Zhiqiang;
Qu, Jia;
Xu, Xun;
Zhou, Xiangtian;
Zou, Haidong;
Wang, Ning;
Li, Tao;
Hu, Xiaohan;
Zhao, Qian;
Chen, Peng;
Li, Wenjin;
Huang, Ke;
Yang, Jun;
He, Zangdong;
Ji, Jue;
Wang, Ti;
Li, Junyan;
Li, You;
Liu, Jie;
Zeng, Zhen

Publication type:

Article

Disrupted-in-Schizophrenia-1 (Disc1) is necessary for migration of the pyramidal neurons during mouse hippocampal development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2834, doi. 10.1093/hmg/ddr194

By:

Tomita, Kenji;
Kubo, Ken-ichiro;
Ishii, Kazuhiro;
Nakajima, Kazunori

Publication type:

Article

Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2869, doi. 10.1093/hmg/ddr189

By:

Chung, Charles C.;
Ciampa, Julia;
Yeager, Meredith;
Jacobs, Kevin B;
Berndt, Sonja I.;
Hayes, Richard B.;
Gonzalez-Bosquet, Jesus;
Kraft, Peter;
Wacholder, Sholom;
Orr, Nick;
Yu, Kai;
Hutchinson, Amy;
Boland, Joseph;
Chen, Quan;
Feigelson, Heather Spencer;
Thun, Michael J.;
Diver, W. Ryan;
Albanes, Demetrius;
Virtamo, Jarmo;
Weinstein, Stephanie

Publication type:

Article

Chromosome 7p11.2 (EGFR) variation influences glioma risk.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2897, doi. 10.1093/hmg/ddr192

By:

Sanson, Marc;
Hosking, Fay J.;
Shete, Sanjay;
Zelenika, Diana;
Dobbins, Sara E.;
Ma, Yussanne;
Enciso-Mora, Victor;
Idbaih, Ahmed;
Delattre, Jean-Yves;
Hoang-Xuan, Khe;
Marie, Yannick;
Boisselier, Blandine;
Carpentier, Catherine;
Wang, Xiao-Wei;
Di Stefano, Anna Luisa;
Labussière, Marianne;
Gousias, Konstantinos;
Schramm, Johannes;
Boland, Anne;
Lechner, Doris

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 14, p. NP, doi. 10.1093/hmg/ddr260
Publication type:: Article

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2879, doi. 10.1093/hmg/ddr190

By:

Carvajal-Carmona, Luis G.;
Cazier, Jean-Baptiste;
Jones, Angela M.;
Howarth, Kimberley;
Broderick, Peter;
Pittman, Alan;
Dobbins, Sara;
Tenesa, Albert;
Farrington, Susan;
Prendergast, James;
Theodoratou, Evi;
Barnetson, Rebecca;
Conti, David;
Newcomb, Polly;
Hopper, John L.;
Jenkins, Mark A.;
Gallinger, Steven;
Duggan, David J.;
Campbell, Harry;
Kerr, David

Publication type:

Article

The liver receptor homolog-1 (LRH-1) is expressed in human islets and protects β-cells against stress-induced apoptosis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2823

By:

Baquié, Mathurin;
St-Onge, Luc;
Kerr-Conte, Julie;
Cobo-Vuilleumier, Nadia;
Lorenzo, Petra I.;
Jimenez Moreno, Carmen M.;
Cederroth, Christopher R.;
Nef, Serge;
Borot, Sophie;
Bosco, Domenico;
Wang, Haiyan;
Marchetti, Piero;
Pattou, Francois;
Wollheim, Claes B.;
Gauthier, Benoit R.

Publication type:

Article

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2734, doi. 10.1093/hmg/ddr172

By:

Daroszewska, Anna;
van 't Hof, Robert J.;
Rojas, Javier A.;
Layfield, Robert;
Landao-Basonga, Euphemie;
Rose, Lorraine;
Rose, Ken;
Ralston, Stuart H.

Publication type:

Article

HD CAG-correlated gene expression changes support a simple dominant gain of function.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2846, doi. 10.1093/hmg/ddr195

By:

Jacobsen, Jessie C.;
Gregory, Gillian C.;
Woda, Juliana M.;
Thompson, Morgan N.;
Coser, Kathryn R.;
Murthy, Vidya;
Kohane, Isaac S.;
Gusella, James F.;
Seong, Ihn Sik;
MacDonald, Marcy E.;
Shioda, Toshi;
Lee, Jong-Min

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 14, p. NP, doi. 10.1093/hmg/ddr258
Publication type:: Article

Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2783, doi. 10.1093/hmg/ddr177

By:

van Eyk, Clare L.;
O'Keefe, Louise V.;
Lawlor, Kynan T.;
Samaraweera, Saumya E.;
McLeod, Catherine J.;
Price, Gareth R.;
Venter, Deon J.;
Richards, Robert I.

Publication type:

Article

A gender-specific association of CNV at 6p21.3 with NPC susceptibility†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2889, doi. 10.1093/hmg/ddr191

By:

Tse, Ka-Po;
Su, Wen-Hui;
Yang, Min-lee;
Cheng, Hsiao-Yun;
Tsang, Ngan-Ming;
Chang, Kai-Ping;
Hao, Sheng-Po;
Yao Shugart, Yin;
Chang, Yu-Sun

Publication type:

Article

Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2807, doi. 10.1093/hmg/ddr187

By:

Palomo, Gloria M.;
Cerrato, Toñi;
Gargini, Ricardo;
Diaz-Nido, Javier

Publication type:

Article

Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2760, doi. 10.1093/hmg/ddr175

By:

Stroobants, Stijn;
Gerlach, Debora;
Matthes, Frank;
Hartmann, Dieter;
Fogh, Jens;
Gieselmann, Volkmar;
D'Hooge, Rudi;
Matzner, Ulrich

Publication type:

Article

GSH monoethyl ester rescues mitochondrial defects in cystic fibrosis models.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2745, doi. 10.1093/hmg/ddr173

By:

Kelly-Aubert, Mairead;
Trudel, Stéphanie;
Fritsch, Janine;
Nguyen-Khoa, Thao;
Baudouin-Legros, Maryvonne;
Moriceau, Sandra;
Jeanson, Ludovic;
Djouadi, Fatima;
Matar, Corine;
Conti, Marc;
Ollero, Mario;
Brouillard, Franck;
Edelman, Aleksander

Publication type:

Article

Neurofibromin (Nf1) is required for skeletal muscle development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2697, doi. 10.1093/hmg/ddr149

By:

Kossler, Nadine;
Stricker, Sigmar;
Rödelsperger, Christian;
Robinson, Peter N.;
Kim, Johnny;
Dietrich, Carola;
Osswald, Monika;
Kühnisch, Jirko;
Stevenson, David A.;
Braun, Thomas;
Mundlos, Stefan;
Kolanczyk, Mateusz

Publication type:

Article

Transgenic mice expressing caspase-6-derived N-terminal fragments of mutant huntingtin develop neurologic abnormalities with predominant cytoplasmic inclusion pathology composed largely of a smaller proteolytic derivative.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2770, doi. 10.1093/hmg/ddr176

By:

Tebbenkamp, Andrew T.N.;
Green, Cameron;
Xu, Guilian;
Denovan-Wright, Eileen M.;
Rising, Aaron C.;
Fromholt, Susan E.;
Brown, Hilda H.;
Swing, Debbie;
Mandel, Ronald J.;
Tessarollo, Lino;
Borchelt, David R.

Publication type:

Article

Tissue-specific demethylation in CpG-poor promoters during cellular differentiation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 14, p. 2710, doi. 10.1093/hmg/ddr170

By:

Nagae, Genta;
Isagawa, Takayuki;
Shiraki, Nobuaki;
Fujita, Takanori;
Yamamoto, Shogo;
Tsutsumi, Shuichi;
Nonaka, Aya;
Yoshiba, Sayaka;
Matsusaka, Keisuke;
Midorikawa, Yutaka;
Ishikawa, Shumpei;
Soejima, Hidenobu;
Fukayama, Masashi;
Suemori, Hirofumi;
Nakatsuji, Norio;
Kume, Shoen;
Aburatani, Hiroyuki

Publication type:

Article