Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 24

Results: 25

Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4891, doi. 10.1093/hmg/ddr427

By:

Carmignac, Virginie;
Svensson, Martina;
Körner, Zandra;
Elowsson, Linda;
Matsumura, Cintia;
Gawlik, Kinga I.;
Allamand, Valerie;
Durbeej, Madeleine

Publication type:

Article

Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4775, doi. 10.1093/hmg/ddr404

By:

Hiramoto, Takeshi;
Kang, Gina;
Suzuki, Go;
Satoh, Yasushi;
Kucherlapati, Raju;
Watanabe, Yasuhiro;
Hiroi, Noboru

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 24, p. NP, doi. 10.1093/hmg/ddr548
Publication type:: Article

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 5012, doi. 10.1093/hmg/ddr415

By:

Amos, Christopher I.;
Wang, Li-E;
Lee, Jeffrey E.;
Gershenwald, Jeffrey E.;
Chen, Wei V.;
Fang, Shenying;
Kosoy, Roman;
Zhang, Mingfeng;
Qureshi, Abrar A.;
Vattathil, Selina;
Schacherer, Christopher W.;
Gardner, Julie M.;
Wang, Yuling;
Tim Bishop, D.;
Barrett, Jennifer H.;
MacGregor, Stuart;
Hayward, Nicholas K.;
Martin, Nicholas G.;
Duffy, David L.;
Mann, Graham J.

Publication type:

Article

Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4991, doi. 10.1093/hmg/ddr405

By:

Cai, Qiuyin;
Long, Jirong;
Lu, Wei;
Qu, Shimian;
Wen, Wanqing;
Kang, Daehee;
Lee, Ji-Young;
Chen, Kexin;
Shen, Hongbing;
Shen, Chen-Yang;
Sung, Hyuna;
Matsuo, Keitaro;
Haiman, Christopher A.;
Khoo, Ui Soon;
Ren, Zefang;
Iwasaki, Motoki;
Gu, Kai;
Xiang, Yong-Bing;
Choi, Ji-Yeob;
Park, Sue K.

Publication type:

Article

Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4759, doi. 10.1093/hmg/ddr403

By:

Messina, Andrea;
Ferraris, Nicoletta;
Wray, Susan;
Cagnoni, Gabriella;
Donohue, Duncan E.;
Casoni, Filippo;
Kramer, Phillip R.;
Derijck, Alwin A.;
Adolfs, Youri;
Fasolo, Aldo;
Pasterkamp, Ronald J.;
Giacobini, Paolo

Publication type:

Article

Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4822, doi. 10.1093/hmg/ddr421

By:

Hubert, Leroy;
Lin, Yunfu;
Dion, Vincent;
Wilson, John H.

Publication type:

Article

Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4932, doi. 10.1093/hmg/ddr431

By:

Yung, Sun;
Ledran, Maria;
Moreno-Gimeno, Inmaculada;
Conesa, Ana;
Montaner, David;
Dopazo, Joaquín;
Dimmick, Ian;
Slater, Nicholas J.;
Marenah, Lamin;
Real, Pedro J.;
Paraskevopoulou, Iliana;
Bisbal, Viviana;
Burks, Deborah;
Santibanez-Koref, Mauro;
Moreno, Ruben;
Mountford, Joanne;
Menendez, Pablo;
Armstrong, Lyle;
Lako, Majlinda

Publication type:

Article

Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4786, doi. 10.1093/hmg/ddr416

By:

Dempster, Emma L.;
Pidsley, Ruth;
Schalkwyk, Leonard C.;
Owens, Sheena;
Georgiades, Anna;
Kane, Fergus;
Kalidindi, Sridevi;
Picchioni, Marco;
Kravariti, Eugenia;
Toulopoulou, Timothea;
Murray, Robin M.;
Mill, Jonathan

Publication type:

Article

Gene therapy rescues cone function in congenital achromatopsia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 5024, doi. 10.1093/hmg/ddr429

By:

Komáromy, András M.;
Alexander, John J.;
Rowlan, Jessica S.;
Garcia, Monique M.;
Chiodo, Vince A.;
Kaya, Asli;
Tanaka, Jacqueline C.;
Acland, Gregory M.;
Hauswirth, William W.;
Aguirre, Gustavo D.

Publication type:

Article

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4851, doi. 10.1093/hmg/ddr424

By:

Huang, Hsiang-Po;
Chen, Pin-Hsun;
Hwu, Wuh-Liang;
Chuang, Ching-Yu;
Chien, Yin-Hsiu;
Stone, Lee;
Chien, Chung-Liang;
Li, Li-Tzu;
Chiang, Shu-Chuan;
Chen, Hsin-Fu;
Ho, Hong-Nerng;
Chen, Chung-Hsuan;
Kuo, Hung-Chih

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 24, p. NP, doi. 10.1093/hmg/ddr549
Publication type:: Article

Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4810, doi. 10.1093/hmg/ddr420

By:

Shieh, Shin-Yi;
Bonini, Nancy M.

Publication type:

Article

Expression of the dystrophin isoform Dp116 preserves functional muscle mass and extends lifespan without preventing dystrophy in severely dystrophic mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4978, doi. 10.1093/hmg/ddr433

By:

Judge, Luke M.;
Arnett, Andrea L.H.;
Banks, Glen B.;
Chamberlain, Jeffrey S.

Publication type:

Article

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4865, doi. 10.1093/hmg/ddr425

By:

Nölle, Anna;
Zeug, Andre;
van Bergeijk, Jeroen;
Tönges, Lars;
Gerhard, Ralf;
Brinkmann, Hella;
Al Rayes, Sarah;
Hensel, Niko;
Schill, Yvonne;
Apkhazava, David;
Jablonka, Sibylle;
O'mer, Jana;
Kumar Srivastav, Ratnesh;
Baasner, Anne;
Lingor, Paul;
Wirth, Brunhilde;
Ponimaskin, Evgeni;
Niedenthal, Rainer;
Grothe, Claudia;
Claus, Peter

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 24, p. NP, doi. 10.1093/hmg/ddr547
Publication type:: Article

Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 5000, doi. 10.1093/hmg/ddr414

By:

Huffman, Jennifer E.;
Knežević, Ana;
Vitart, Veronique;
Kattla, Jayesh;
Adamczyk, Barbara;
Novokmet, Mislav;
Igl, Wilmar;
Pučić, Maja;
Zgaga, Lina;
Johannson, Åsa;
Redžić, Irma;
Gornik, Olga;
Zemunik, Tatijana;
Polašek, Ozren;
Kolčić, Ivana;
Pehlić, Marina;
Koeleman, Carolien A.M.;
Campbell, Susan;
Wild, Sarah H.;
Hastie, Nicholas D.

Publication type:

Article

Functional genomic screen and network analysis reveal novel modifiers of tauopathy dissociated from tau phosphorylation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4947, doi. 10.1093/hmg/ddr432

By:

Ambegaokar, Surendra S.;
Jackson, George R.

Publication type:

Article

A set of miRNAs that involve in the pathways of drug resistance and leukemic stem-cell differentiation is associated with the risk of relapse and glucocorticoid response in childhood ALL.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4903, doi. 10.1093/hmg/ddr428

By:

Han, Bo-Wei;
Feng, Dan-Dan;
Li, Zhi-Gang;
Luo, Xue-Qun;
Zhang, Hua;
Li, Xiao-Juan;
Zhang, Xing-Ju;
Zheng, Ling-Ling;
Zeng, Cheng-Wu;
Lin, Kang-Yu;
Zhang, Peng;
Xu, Ling;
Chen, Yue-Qin

Publication type:

Article

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4797, doi. 10.1093/hmg/ddr418

By:

Valnegri, Pamela;
Montrasio, Chiara;
Brambilla, Dario;
Ko, Jaewon;
Passafaro, Maria;
Sala, Carlo

Publication type:

Article

Losing balance: Hardy–Weinberg disequilibrium as a marker for recurrent loss-of-heterozygosity in cancer.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4831, doi. 10.1093/hmg/ddr422

By:

Wilkins, Katherine;
LaFramboise, Thomas

Publication type:

Article

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4916, doi. 10.1093/hmg/ddr430

By:

Kunde, S.A.;
Musante, L.;
Grimme, A.;
Fischer, U.;
Müller, E.;
Wanker, E.E.;
Kalscheuer, V.M.

Publication type:

Article

The role of RPGR in cilia formation and actin stability.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4840, doi. 10.1093/hmg/ddr423

By:

Gakovic, Milica;
Shu, Xinhua;
Kasioulis, Ioannis;
Carpanini, Sarah;
Moraga, Ignacio;
Wright, Alan F.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 24, p. NP, doi. 10.1093/hmg/ddr546
Publication type:: Article

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 24, p. 4879, doi. 10.1093/hmg/ddr426

By:

Wood, Alasdair J.;
Müller, Juliane S.;
Jepson, Catherine D.;
Laval, Steve H.;
Lochmüller, Hanns;
Bushby, Kate;
Barresi, Rita;
Straub, Volker

Publication type:

Article