Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 4

Results: 26

TDP-43 Phosphorylation by casein kinase Iε promotes oligomerization and enhances toxicity in vivo.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1025, doi. 10.1093/hmg/ddt498

By:

Choksi, Darshana K.;
Roy, Bidisha;
Chatterjee, Shreyasi;
Yusuff, Tanzeen;
Bakhoum, Mathieu F.;
Sengupta, Urmi;
Ambegaokar, Suren;
Kayed, Rakez;
Jackson, George R.

Publication type:

Article

Parkin overexpression ameliorates hippocampal long-term potentiation and β-amyloid load in an Alzheimer's disease mouse model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1056, doi. 10.1093/hmg/ddt501

By:

Hong, Xiaoqi;
Liu, Jie;
Zhu, Guoqi;
Zhuang, YingHan;
Suo, Haiyun;
Wang, Pan;
Huang, Dongping;
Xu, Jing;
Huang, Yufang;
Yu, Mei;
Bian, MinJuan;
Sheng, Zhejin;
Fei, Jian;
Song, Houyan;
Behnisch, Thomas;
Huang, Fang

Publication type:

Article

RNA sequencing-based identification of aberrant imprinting in cloned mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 992, doi. 10.1093/hmg/ddt495

By:

Okae, Hiroaki;
Matoba, Shogo;
Nagashima, Takeshi;
Mizutani, Eiji;
Inoue, Kimiko;
Ogonuki, Narumi;
Chiba, Hatsune;
Funayama, Ryo;
Tanaka, Satoshi;
Yaegashi, Nobuo;
Nakayama, Keiko;
Sasaki, Hiroyuki;
Ogura, Atsuo;
Arima, Takahiro

Publication type:

Article

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 843, doi. 10.1093/hmg/ddt468

By:

Farfel-Becker, Tamar;
Vitner, Einat B.;
Kelly, Samuel L.;
Bame, Jessica R.;
Duan, Jingjing;
Shinder, Vera;
Merrill, Alfred H.;
Dobrenis, Kostantin;
Futerman, Anthony H.

Publication type:

Article

AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1002, doi. 10.1093/hmg/ddt496

By:

Kolandaivelu, Saravanan;
Singh, Ratnesh K.;
Ramamurthy, Visvanathan

Publication type:

Article

Functional screening in Drosophila identifies Alzheimer's disease susceptibility genes and implicates Tau-mediated mechanisms.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 870, doi. 10.1093/hmg/ddt478

By:

Shulman, Joshua M.;
Imboywa, Selina;
Giagtzoglou, Nikolaos;
Powers, Martin P.;
Hu, Yanhui;
Devenport, Danelle;
Chipendo, Portia;
Chibnik, Lori B.;
Diamond, Allison;
Perrimon, Norbert;
Brown, Nicholas H.;
De Jager, Philip L.;
Feany, Mel B.

Publication type:

Article

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494

By:

Chauveau, Claire;
Bonnemann, Carsten G.;
Julien, Cedric;
Kho, Ay Lin;
Marks, Harold;
Talim, Beril;
Maury, Philippe;
Arne-Bes, Marie Christine;
Uro-Coste, Emmanuelle;
Alexandrovich, Alexander;
Vihola, Anna;
Schafer, Sebastian;
Kaufmann, Beth;
Medne, Livija;
Hübner, Norbert;
Foley, A. Reghan;
Santi, Mariarita;
Udd, Bjarne;
Topaloglu, Haluk;
Moore, Steven A.

Publication type:

Article

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1084, doi. 10.1093/hmg/ddt503

By:

Lee, Kristie;
Mattiske, Tessa;
Kitamura, Kunio;
Gecz, Jozef;
Shoubridge, Cheryl

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 4, p. NP, doi. 10.1093/hmg/ddu035
Publication type:: Article

Integrative genome and transcriptome analyses reveal two distinct types of ring chromosome in soft tissue sarcomas.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 878, doi. 10.1093/hmg/ddt479

By:

Nord, Karolin H.;
Macchia, Gemma;
Tayebwa, Johnbosco;
Nilsson, Jenny;
Vult von Steyern, Fredrik;
Brosjö, Otte;
Mandahl, Nils;
Mertens, Fredrik

Publication type:

Article

Two classes of ovarian primordial follicles exhibit distinct developmental dynamics and physiological functions.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 920, doi. 10.1093/hmg/ddt486

By:

Zheng, Wenjing;
Zhang, Hua;
Gorre, Nagaraju;
Risal, Sanjiv;
Shen, Yan;
Liu, Kui

Publication type:

Article

DNase hypersensitive sites and association with multiple sclerosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 942, doi. 10.1093/hmg/ddt489

By:

Disanto, Giulio;
Kjetil Sandve, Geir;
Ricigliano, Vito A.G.;
Pakpoor, Julia;
Berlanga-Taylor, Antonio J.;
Handel, Adam E.;
Kuhle, Jens;
Holden, Lars;
Watson, Corey T.;
Giovannoni, Gavin;
Handunnetthi, Lahiru;
Ramagopalan, Sreeram V.

Publication type:

Article

A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1108, doi. 10.1093/hmg/ddt488

By:

Wu, Ying;
Gao, He;
Li, Huaixing;
Tabara, Yasuharu;
Nakatochi, Masahiro;
Chiu, Yen-Feng;
Park, Eun Jung;
Wen, Wanqing;
Adair, Linda S.;
Borja, Judith B.;
Cai, Qiuyin;
Chang, Yi-Cheng;
Chen, Peng;
Croteau-Chonka, Damien C.;
Fogarty, Marie P.;
Gan, Wei;
He, Chih-Tsueng;
Hsiung, Chao A.;
Hwu, Chii-Min;
Ichihara, Sahoko

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 4, p. NP, doi. 10.1093/hmg/ddu037
Publication type:: Article

Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2).

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1045, doi. 10.1093/hmg/ddt500

By:

Tanaka, Yoshiaki;
Kim, Kun-Yong;
Zhong, Mei;
Pan, Xinghua;
Weissman, Sherman Morton;
Park, In-Hyun

Publication type:

Article

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 949, doi. 10.1093/hmg/ddt490

By:

Smith, Paul M.;
Elson, Joanna L.;
Greaves, Laura C.;
Wortmann, Saskia B.;
Rodenburg, Richard J.T.;
Lightowlers, Robert N.;
Chrzanowska-Lightowlers, Zofia M.A.;
Taylor, Robert W.;
Vila-Sanjurjo, Antón

Publication type:

Article

MeCP2: a novel Huntingtin interactor.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1036, doi. 10.1093/hmg/ddt499

By:

McFarland, Karen N.;
Huizenga, Megan N.;
Darnell, Shayna B.;
Sangrey, Gavin R.;
Berezovska, Oksana;
Cha, Jang-Ho J.;
Outeiro, Tiago F.;
Sadri-Vakili, Ghazaleh

Publication type:

Article

Increased ERK signalling promotes inflammatory signalling in primary airway epithelial cells expressing Z α1-antitrypsin.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 929, doi. 10.1093/hmg/ddt487

By:

van ‘t Wout, Emily F.A.;
Dickens, Jennifer A.;
van Schadewijk, Annemarie;
Haq, Imran;
Kwok, Hang Fai;
Ordóñez, Adriana;
Murphy, Gillian;
Stolk, Jan;
Lomas, David A.;
Hiemstra, Pieter S.;
Marciniak, Stefan J.

Publication type:

Article

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 968, doi. 10.1093/hmg/ddt493

By:

Tricoire, Hervé;
Palandri, Amandine;
Bourdais, Arthur;
Camadro, Jean-Michel;
Monnier, Véronique

Publication type:

Article

DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 906, doi. 10.1093/hmg/ddt485

By:

Ogawa, Fumiaki;
Malavasi, Elise L.V.;
Crummie, Darragh K.;
Eykelenboom, Jennifer E.;
Soares, Dinesh C.;
Mackie, Shaun;
Porteous, David J.;
Millar, J. Kirsty

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 4, p. NP, doi. 10.1093/hmg/ddu036
Publication type:: Article

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 855, doi. 10.1093/hmg/ddt477

By:

Sleigh, James N.;
Barreiro-Iglesias, Antón;
Oliver, Peter L.;
Biba, Angeliki;
Becker, Thomas;
Davies, Kay E.;
Becker, Catherina G.;
Talbot, Kevin

Publication type:

Article

Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1095, doi. 10.1093/hmg/ddt504

By:

Yao, Bing;
Lin, Li;
Street, R. Craig;
Zalewski, Zachary A.;
Galloway, Jocelyn N.;
Wu, Hao;
Nelson, David L.;
Jin, Peng

Publication type:

Article

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1073, doi. 10.1093/hmg/ddt502

By:

Loke, Johnny;
Pearlman, Alexander;
Radi, Orietta;
Zuffardi, Orsetta;
Giussani, Ursula;
Pallotta, Rosanna;
Camerino, Giovanna;
Ostrer, Harry

Publication type:

Article

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 1013, doi. 10.1093/hmg/ddt497

By:

Shi, Chang-He;
Schisler, Jonathan C.;
Rubel, Carrie E.;
Tan, Song;
Song, Bo;
McDonough, Holly;
Xu, Lei;
Portbury, Andrea L.;
Mao, Cheng-Yuan;
True, Cadence;
Wang, Rui-Hao;
Wang, Qing-Zhi;
Sun, Shi-Lei;
Seminara, Stephanie B.;
Patterson, Cam;
Xu, Yu-Ming

Publication type:

Article

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 4, p. 889, doi. 10.1093/hmg/ddt484

By:

Berthon, Annabel;
Drelon, Coralie;
Ragazzon, Bruno;
Boulkroun, Sheerazed;
Tissier, Frédérique;
Amar, Laurence;
Samson-Couterie, Benoît;
Zennaro, Maria-Christina;
Plouin, Pierre-François;
Skah, Seham;
Plateroti, Michelina;
Lefèbvre, Hervé;
Sahut-Barnola, Isabelle;
Batisse-Lignier, Marie;
Assié, Guillaume;
Lefrançois-Martinez, Anne-Marie;
Bertherat, Jérôme;
Martinez, Antoine;
Val, Pierre

Publication type:

Article