Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 1

Results: 24

Impaired functionality and homing of Fancg-deficient hematopoietic stem cells.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 121, doi. 10.1093/hmg/ddr447

By:

Barroca, Vilma;
Mouthon, Marc André;
Lewandowski, Daniel;
Brunet de la Grange, Philippe;
Gauthier, Laurent Robert;
Pflumio, Françoise;
Boussin, François Dominique;
Arwert, Fre;
Riou, Lydia;
Allemand, Isabelle;
Romeo, Paul Henri;
Fouchet, Pierre

Publication type:

Article

What are the determinants of gene expression levels and breadths in the human genome?

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 46, doi. 10.1093/hmg/ddr436

By:

Park, Jungsun;
Xu, Ke;
Park, Taesung;
Yi, Soojin V.

Publication type:

Article

Dysfunctions in endosomal–lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 175, doi. 10.1093/hmg/ddr452

By:

Puri, Rajat;
Suzuki, Toshimitsu;
Yamakawa, Kazuhiro;
Ganesh, Subramaniam

Publication type:

Article

Cardiovascular defects in a mouse model of HOXA1 syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 26, doi. 10.1093/hmg/ddr434

By:

Makki, Nadja;
Capecchi, Mario R.

Publication type:

Article

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 1, doi. 10.1093/hmg/ddr417

By:

Murakami, Tetsuro;
Yang, Seung-Pil;
Xie, Lin;
Kawano, Taizo;
Fu, Donald;
Mukai, Asuka;
Bohm, Christopher;
Chen, Fusheng;
Robertson, Janice;
Suzuki, Hiroshi;
Tartaglia, Gian Gaetano;
Vendruscolo, Michele;
Kaminski Schierle, Gabriele S.;
Chan, Fiona T.S.;
Moloney, Aileen;
Crowther, Damian;
Kaminski, Clemens F.;
Zhen, Mei;
St George-Hyslop, Peter

Publication type:

Article

Transcriptional responses to loss or gain of function of the leucine-rich repeat kinase 2 (LRRK2) gene uncover biological processes modulated by LRRK2 activity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 163, doi. 10.1093/hmg/ddr451

By:

Nikonova, Elena V.;
Xiong, Yulan;
Tanis, Keith Q.;
Dawson, Valina L.;
Vogel, Robert L.;
Finney, Eva M.;
Stone, David J.;
Reynolds, Ian J.;
Kern, Jonathan T.;
Dawson, Ted M.

Publication type:

Article

Reprogramming somatic cells into iPS cells activates LINE-1 retroelement mobility.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 208, doi. 10.1093/hmg/ddr455

By:

Wissing, Silke;
Muñoz-Lopez, Martin;
Macia, Angela;
Yang, Zhiyuan;
Montano, Mauricio;
Collins, William;
Garcia-Perez, Jose Luis;
Moran, John V.;
Greene, Warner C.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr564
Publication type:: Article

Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 150, doi. 10.1093/hmg/ddr450

By:

Noack, Rebecca;
Frede, Svenja;
Albrecht, Philipp;
Henke, Nadine;
Pfeiffer, Annika;
Knoll, Katrin;
Dehmel, Thomas;
Meyer zu Hörste, Gerd;
Stettner, Mark;
Kieseier, Bernd C.;
Summer, Holger;
Golz, Stefan;
Kochanski, Andrzej;
Wiedau-Pazos, Martina;
Arnold, Susanne;
Lewerenz, Jan;
Methner, Axel

Publication type:

Article

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 185, doi. 10.1093/hmg/ddr453

By:

Ling, Karen K. Y.;
Gibbs, Rebecca M.;
Feng, Zhihua;
Ko, Chien-Ping

Publication type:

Article

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 66, doi. 10.1093/hmg/ddr438

By:

Tyynismaa, Henna;
Sun, Ren;
Ahola-Erkkilä, Sofia;
Almusa, Henrikki;
Pöyhönen, Rosanna;
Korpela, Mari;
Honkaniemi, Jari;
Isohanni, Pirjo;
Paetau, Anders;
Wang, Liya;
Suomalainen, Anu

Publication type:

Article

Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 57, doi. 10.1093/hmg/ddr437

By:

Tan, Huiping;
Qurashi, Abrar;
Poidevin, Mickael;
Nelson, David L.;
Li, He;
Jin, Peng

Publication type:

Article

Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 32, doi. 10.1093/hmg/ddr435

By:

Li, Wen;
Wang, Xianming;
Fan, Wenxia;
Zhao, Ping;
Chan, Yau-Chi;
Chen, Shen;
Zhang, Shiqiang;
Guo, Xiangpeng;
Zhang, Ya;
Li, Yanhua;
Cai, Jinglei;
Qin, Dajiang;
Li, Xingyan;
Yang, Jiayin;
Peng, Tianran;
Zychlinski, Daniela;
Hoffmann, Dirk;
Zhang, Ruosi;
Deng, Kang;
Ng, Kwong-Man

Publication type:

Article

IRE1 plays an essential role in ER stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 101, doi. 10.1093/hmg/ddr445

By:

Lee, Huikyong;
Noh, Jee-Yeon;
Oh, Yumin;
Kim, Youngdoo;
Chang, Jae-Woong;
Chung, Chul-Woong;
Lee, Soon-Tae;
Kim, Manho;
Ryu, Hoon;
Jung, Yong-Keun

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr566
Publication type:: Article

Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 76, doi. 10.1093/hmg/ddr439

By:

McGurk, Leeanne;
Bonini, Nancy M.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr562
Publication type:: Article

Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 219, doi. 10.1093/hmg/ddr456

By:

Singer, Heike;
Walier, Maja;
Nüsgen, Nicole;
Meesters, Christian;
Schreiner, Felix;
Woelfle, Joachim;
Fimmers, Rolf;
Wienker, Thomas;
Kalscheuer, Vera M.;
Becker, Tim;
Schwaab, Rainer;
Oldenburg, Johannes;
El-Maarri, Osman

Publication type:

Article

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 85, doi. 10.1093/hmg/ddr440

By:

Perli, Elena;
Giordano, Carla;
Tuppen, Helen A.L.;
Montopoli, Monica;
Montanari, Arianna;
Orlandi, Maurizia;
Pisano, Annalinda;
Catanzaro, Daniela;
Caparrotta, Laura;
Musumeci, Beatrice;
Autore, Camillo;
Morea, Veronica;
Di Micco, Patrizio;
Campese, Antonio F.;
Leopizzi, Martina;
Gallo, Pietro;
Francisci, Silvia;
Frontali, Laura;
Taylor, Robert W.;
d'Amati, Giulia

Publication type:

Article

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 10, doi. 10.1093/hmg/ddr419

By:

Chiesa, Nicoletta;
De Crescenzo, Agostina;
Mishra, Kankadeb;
Perone, Lucia;
Carella, Massimo;
Palumbo, Orazio;
Mussa, Alessandro;
Sparago, Angela;
Cerrato, Flavia;
Russo, Silvia;
Lapi, Elisabetta;
Cubellis, Maria Vittoria;
Kanduri, Chandrasekhar;
Cirillo Silengo, Margherita;
Riccio, Andrea;
Ferrero, Giovanni Battista

Publication type:

Article

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 115, doi. 10.1093/hmg/ddr446

By:

Calvaruso, Maria Antonietta;
Willems, Peter;
van den Brand, Mariël;
Valsecchi, Federica;
Kruse, Shane;
Palmiter, Richard;
Smeitink, Jan;
Nijtmans, Leo

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 1, p. NP, doi. 10.1093/hmg/ddr560
Publication type:: Article

Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 196, doi. 10.1093/hmg/ddr454

By:

Zhou, Yuedan;
Zhang, Enming;
Berggreen, Christine;
Jing, Xingjun;
Osmark, Peter;
Lang, Stefan;
Cilio, Corrado M.;
Göransson, Olga;
Groop, Leif;
Renström, Erik;
Hansson, Ola

Publication type:

Article

Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 1, p. 136, doi. 10.1093/hmg/ddr448

By:

Tradewell, Miranda L.;
Yu, Zhenbao;
Tibshirani, Michael;
Boulanger, Marie-Chloé;
Durham, Heather D.;
Richard, Stéphane

Publication type:

Article