Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 11

Results: 22

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2131, doi. 10.1093/hmg/ddr099

By:

Tomé, Stéphanie;
Panigrahi, Gagan B.;
López Castel, Arturo;
Foiry, Laurent;
Melton, David W.;
Gourdon, Geneviève;
Pearson, Christopher E.

Publication type:

Article

Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2251, doi. 10.1093/hmg/ddr115

By:

Colella, Pasqualina;
Iodice, Carolina;
Di Vicino, Umberto;
Annunziata, Ida;
Surace, Enrico M.;
Auricchio, Alberto

Publication type:

Article

P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2081, doi. 10.1093/hmg/ddr081

By:

Fratta, Pietro;
Saveri, Paola;
Zambroni, Desiree;
Ferri, Cinzia;
Tinelli, Elisa;
Messing, Albee;
D'Antonio, Maurizio;
Feltri, Maria Laura;
Wrabetz, Lawrence

Publication type:

Article

NANOS3 function in human germ cell development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2238, doi. 10.1093/hmg/ddr114

By:

Julaton, Vanessa T. Angeles;
Reijo Pera, Renee A.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 11, p. NP, doi. 10.1093/hmg/ddr181
Publication type:: Article

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2213, doi. 10.1093/hmg/ddr109

By:

Bagheri-Fam, Stefan;
Argentaro, Anthony;
Svingen, Terje;
Combes, Alexander N.;
Sinclair, Andrew H.;
Koopman, Peter;
Harley, Vincent R.

Publication type:

Article

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2204, doi. 10.1093/hmg/ddr108

By:

Gehrking, Kristin M.;
Andresen, J. Michael;
Duvick, Lisa;
Lough, John;
Zoghbi, Huda Y.;
Orr, Harry T.

Publication type:

Article

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2116, doi. 10.1093/hmg/ddr094

By:

Tanackovic, Goranka;
Ransijn, Adriana;
Thibault, Philippe;
Abou Elela, Sherif;
Klinck, Roscoe;
Berson, Eliot L.;
Chabot, Benoit;
Rivolta, Carlo

Publication type:

Article

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2161, doi. 10.1093/hmg/ddr101

By:

Hoem, Gry;
Raske, Christopher R.;
Garcia-Arocena, Dolores;
Tassone, Flora;
Sanchez, Eleonora;
Ludwig, Anna L.;
Iwahashi, Christine K.;
Kumar, Madhur;
Yang, Jane E.;
Hagerman, Paul J.

Publication type:

Article

Parkin mediates beclin-dependent autophagic clearance of defective mitochondria and ubiquitinated Aβ in AD models.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2091, doi. 10.1093/hmg/ddr091

By:

Khandelwal, Preeti J.;
Herman, Alexander M.;
Hoe, Hyang-Sook;
Rebeck, G. William;
Moussa, Charbel E.-H.

Publication type:

Article

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2273

By:

Fox, Ervin R.;
Young, J. Hunter;
Li, Yali;
Dreisbach, Albert W.;
Keating, Brendan J.;
Musani, Solomon K.;
Liu, Kiang;
Morrison, Alanna C.;
Ganesh, Santhi;
Kutlar, Abdullah;
Ramachandran, Vasan S.;
Polak, Josef F.;
Fabsitz, Richard R.;
Dries, Daniel L.;
Farlow, Deborah N.;
Redline, Susan;
Adeyemo, Adebowale;
Hirschorn, Joel N.;
Sun, Yan V.;
Wyatt, Sharon B.

Publication type:

Article

The ER stress factor XBP1s prevents amyloid-β neurotoxicity.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2144, doi. 10.1093/hmg/ddr100

By:

Casas-Tinto, Sergio;
Zhang, Yan;
Sanchez-Garcia, Jonatan;
Gomez-Velazquez, Melisa;
Rincon-Limas, Diego E.;
Fernandez-Funez, Pedro

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 11, p. NP, doi. 10.1093/hmg/ddr179
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 11, p. NP, doi. 10.1093/hmg/ddr185
Publication type:: Article

Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2285, doi. 10.1093/hmg/ddr113

By:

Zhu, Xiaofeng;
Young, J.H.;
Fox, Ervin;
Keating, Brendan J.;
Franceschini, Nora;
Kang, Sunjung;
Tayo, Bamidele;
Adeyemo, Adebowale;
Sun, Yun V.;
Li, Yali;
Morrison, Alanna;
Newton-Cheh, Christopher;
Liu, Kiang;
Ganesh, Santhi K.;
Kutlar, Abdullah;
Vasan, Ramachandran S.;
Dreisbach, Albert;
Wyatt, Sharon;
Polak, Joseph;
Palmas, Walter

Publication type:

Article

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2103, doi. 10.1093/hmg/ddr093

By:

Cheung, Aaron Y.L.;
Horvath, Lindsay M.;
Grafodatskaya, Daria;
Pasceri, Peter;
Weksberg, Rosanna;
Hotta, Akitsu;
Carrel, Laura;
Ellis, James

Publication type:

Article

Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2225, doi. 10.1093/hmg/ddr111

By:

Gaughwin, Philip Michael;
Ciesla, Maciej;
Lahiri, Nayana;
Tabrizi, Sarah J.;
Brundin, Patrik;
Björkqvist, Maria

Publication type:

Article

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2195, doi. 10.1093/hmg/ddr107

By:

Dhayalan, Arunkumar;
Tamas, Raluca;
Bock, Ina;
Tattermusch, Anna;
Dimitrova, Emilia;
Kudithipudi, Srikanth;
Ragozin, Sergey;
Jeltsch, Albert

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 11, p. NP, doi. 10.1093/hmg/ddr180
Publication type:: Article

The podocyte protein nephrin is required for cardiac vessel formation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2182, doi. 10.1093/hmg/ddr106

By:

Wagner, Nicole;
Morrison, Harris;
Pagnotta, Sophie;
Michiels, Jean-Francois;
Schwab, Yannick;
Tryggvason, Karl;
Schedl, Andreas;
Wagner, Kay-Dietrich

Publication type:

Article

Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2263

By:

Pearce, Celeste Leigh;
Doherty, Jennifer A.;
Van Den Berg, David J.;
Moysich, Kirsten;
Hsu, Chris;
Cushing-Haugen, Kara L.;
Conti, David V.;
Ramus, Susan J.;
Gentry-Maharaj, Aleksandra;
Menon, Usha;
Gayther, Simon A.;
Pharoah, Paul D.P.;
Song, Honglin;
Kjaer, Susanne K.;
Hogdall, Estrid;
Hogdall, Claus;
Whittemore, Alice S.;
McGuire, Valerie;
Sieh, Weiva;
Gronwald, Jacek

Publication type:

Article

USP1 deubiquitinase maintains phosphorylated CHK1 by limiting its DDB1-dependent degradation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 11, p. 2171, doi. 10.1093/hmg/ddr103

By:

Guervilly, Jean-Hugues;
Renaud, Emilie;
Takata, Minoru;
Rosselli, Filippo

Publication type:

Article