Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 13

Results: 24

Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2936, doi. 10.1093/hmg/dds125

By:

Cook, Casey;
Gendron, Tania F.;
Scheffel, Kristyn;
Carlomagno, Yari;
Dunmore, Judy;
DeTure, Michael;
Petrucelli, Leonard

Publication type:

Article

Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2873, doi. 10.1093/hmg/dds112

By:

Sepp, Mari;
Pruunsild, Priit;
Timmusk, Tõnis

Publication type:

Article

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2923, doi. 10.1093/hmg/dds118

By:

Cao, Zhengyu;
Hulsizer, Susan;
Tassone, Flora;
Tang, Hiu-tung;
Hagerman, Randi J.;
Rogawski, Michael A.;
Hagerman, Paul J.;
Pessah, Isaac N.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 13, p. NP, doi. 10.1093/hmg/dds234
Publication type:: Article

C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3063, doi. 10.1093/hmg/dds133

By:

Doumatey, Ayo P.;
Chen, Guanjie;
Tekola Ayele, Fasil;
Zhou, Jie;
Erdos, Michael;
Shriner, Daniel;
Huang, Hanxia;
Adeleye, Jokotade;
Balogun, Williams;
Fasanmade, Olufemi;
Johnson, Thomas;
Oli, Johnnie;
Okafor, Godfrey;
Amoah, Albert;
Eghan, Benjamin A.;
Agyenim-Boateng, Kofi;
Acheampong, Joseph;
Adebamowo, Clement;
Gerry, Norman P.;
Christman, Michael F.

Publication type:

Article

DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3013, doi. 10.1093/hmg/dds131

By:

Im, Joo-Young;
Lee, Kang-Woo;
Woo, Jong-Min;
Junn, Eunsung;
Mouradian, M. Maral

Publication type:

Article

Mitochondria-targeted catalase reduces abnormal APP processing, amyloid β production and BACE1 in a mouse model of Alzheimer's disease: implications for neuroprotection and lifespan extension.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2973, doi. 10.1093/hmg/dds128

By:

Mao, Peizhong;
Manczak, Maria;
Calkins, Marcus J.;
Truong, Quang;
Reddy, Tejaswini P.;
Reddy, Arubala P.;
Shirendeb, Ulziibat;
Lo, Herng-Hsiang;
Rabinovitch, Peter S.;
Reddy, P. Hemachandra

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 13, p. NP, doi. 10.1093/hmg/dds237
Publication type:: Article

miRNA-34c regulates Notch signaling during bone development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2991, doi. 10.1093/hmg/dds129

By:

Bae, Yangjin;
Yang, Tao;
Zeng, Huan-Chang;
Campeau, Philippe M.;
Chen, Yuqing;
Bertin, Terry;
Dawson, Brian C.;
Munivez, Elda;
Tao, Jianning;
Lee, Brendan H.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 13, p. NP, doi. 10.1093/hmg/dds236
Publication type:: Article

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2855, doi. 10.1093/hmg/dds110

By:

Tomassini, Barbara;
Arcuri, Gaetano;
Fortuni, Silvia;
Sandi, Chiranjeevi;
Ezzatizadeh, Vahid;
Casali, Carlo;
Condò, Ivano;
Malisan, Florence;
Al-Mahdawi, Sahar;
Pook, Mark;
Testi, Roberto

Publication type:

Article

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2889, doi. 10.1093/hmg/dds115

By:

Osorio, Ana;
Endt, Daniela;
Fernández, Fernando;
Eirich, Katharina;
de la Hoya, Miguel;
Schmutzler, Rita;
Caldés, Trinidad;
Meindl, Alfons;
Schindler, Detlev;
Benitez, Javier

Publication type:

Article

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2899, doi. 10.1093/hmg/dds116

By:

Couthouis, Julien;
Hart, Michael P.;
Erion, Renske;
King, Oliver D.;
Diaz, Zamia;
Nakaya, Tadashi;
Ibrahim, Fadia;
Kim, Hyung-Jun;
Mojsilovic-Petrovic, Jelena;
Panossian, Saarene;
Kim, Cecilia E.;
Frackelton, Edward C.;
Solski, Jennifer A.;
Williams, Kelly L.;
Clay-Falcone, Dana;
Elman, Lauren;
McCluskey, Leo;
Greene, Robert;
Hakonarson, Hakon;
Kalb, Robert G.

Publication type:

Article

Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3050, doi. 10.1093/hmg/dds114

By:

Bloom, A. Joseph;
Harari, Oscar;
Martinez, Maribel;
Madden, Pamela A. F.;
Martin, Nicholas G.;
Montgomery, Grant W.;
Rice, John P.;
Murphy, Sharon E.;
Bierut, Laura J.;
Goate, Alison

Publication type:

Article

Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2961, doi. 10.1093/hmg/dds127

By:

Gin, Peter;
Goulbourne, Chris N.;
Adeyo, Oludotun;
Beigneux, Anne P.;
Davies, Brandon S. J.;
Tat, Shelly;
Voss, Constance V.;
Bensadoun, André;
Fong, Loren G.;
Young, Stephen G.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 13, p. NP, doi. 10.1093/hmg/dds235
Publication type:: Article

Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3025, doi. 10.1093/hmg/dds134

By:

Martin, Katherine R.;
Corlett, Alicia;
Dubach, Daphne;
Mustafa, Tomris;
Coleman, Harold A.;
Parkington, Helena C.;
Merson, Tobias D.;
Bourne, James A.;
Porta, Sílvia;
Arbonés, Maria L.;
Finkelstein, David I.;
Pritchard, Melanie A.

Publication type:

Article

Cigarette smoking behaviors and time since quitting are associated with differential DNA methylation across the human genome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3073, doi. 10.1093/hmg/dds135

By:

Wan, Emily S.;
Qiu, Weiliang;
Baccarelli, Andrea;
Carey, Vincent J.;
Bacherman, Helene;
Rennard, Stephen I.;
Agusti, Alvar;
Anderson, Wayne;
Lomas, David A.;
DeMeo, Dawn L.

Publication type:

Article

Calsyntenin-1 mediates axonal transport of the amyloid precursor protein and regulates Aβ production.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2845, doi. 10.1093/hmg/dds109

By:

Vagnoni, Alessio;
Perkinton, Michael S.;
Gray, Emma H.;
Francis, Paul T.;
Noble, Wendy;
Miller, Christopher C.J.

Publication type:

Article

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3001, doi. 10.1093/hmg/dds130

By:

Meng, Linyan;
Person, Richard E.;
Beaudet, Arthur L.

Publication type:

Article

A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3042

By:

Imamura, Minako;
Maeda, Shiro;
Yamauchi, Toshimasa;
Hara, Kazuo;
Yasuda, Kazuki;
Morizono, Takashi;
Takahashi, Atsushi;
Horikoshi, Momoko;
Nakamura, Masahiro;
Fujita, Hayato;
Tsunoda, Tatsuhiko;
Kubo, Michiaki;
Watada, Hirotaka;
Maegawa, Hiroshi;
Okada-Iwabu, Miki;
Iwabu, Masato;
Shojima, Nobuhiro;
Ohshige, Toshihiko;
Omori, Shintaro;
Iwata, Minoru

Publication type:

Article

Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2946, doi. 10.1093/hmg/dds126

By:

Lopez, Manuel E.;
Klein, Andrés D.;
Hong, Jennifer;
Dimbil, Ubah J.;
Scott, Matthew P.

Publication type:

Article

The DISC1 promoter: characterization and regulation by FOXP2.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2862, doi. 10.1093/hmg/dds111

By:

Walker, Rosie M.;
Hill, Alison E.;
Newman, Alice C.;
Hamilton, Gillian;
Torrance, Helen S.;
Anderson, Susan M.;
Ogawa, Fumiaki;
Derizioti, Pelagia;
Nicod, Jérôme;
Vernes, Sonja C.;
Fisher, Simon E.;
Thomson, Pippa A.;
Porteous, David J.;
Evans, Kathryn L.

Publication type:

Article

Rab11 rescues synaptic dysfunction and behavioural deficits in a Drosophila model of Huntington's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 2912, doi. 10.1093/hmg/dds117

By:

Steinert, Joern R.;
Campesan, Susanna;
Richards, Paul;
Kyriacou, Charalambos P.;
Forsythe, Ian D.;
Giorgini, Flaviano

Publication type:

Article