Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 18

Results: 26

A unique gene expression signature associated with serotonin 2C receptor RNA editing in the prefrontal cortex and altered in suicide.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4801, doi. 10.1093/hmg/ddu195

By:

Di Narzo, Antonio Fabio;
Kozlenkov, Alexey;
Roussos, Panos;
Hao, Ke;
Hurd, Yasmin;
Lewis, David A.;
Sibille, Etienne;
Siever, Larry J.;
Koonin, Eugene;
Dracheva, Stella

Publication type:

Article

Calpain inhibition reduces ataxin-3 cleavage alleviating neuropathology and motor impairments in mouse models of Machado–Joseph disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4932, doi. 10.1093/hmg/ddu209

By:

Simões, Ana Teresa;
Gonçalves, Nélio;
Nobre, Rui Jorge;
Duarte, Carlos Bandeira;
Pereira de Almeida, Luís

Publication type:

Article

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4859

By:

Pérez-Brangulí, Francesc;
Mishra, Himanshu K.;
Prots, Iryna;
Havlicek, Steven;
Kohl, Zacharias;
Saul, Domenica;
Rummel, Christine;
Dorca-Arevalo, Jonatan;
Regensburger, Martin;
Graef, Daniela;
Sock, Elisabeth;
Blasi, Juan;
Groemer, Teja W.;
Schlötzer-Schrehardt, Ursula;
Winkler, Jürgen;
Winner, Beate

Publication type:

Article

X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4985, doi. 10.1093/hmg/ddu213

By:

Adihe Lokanga, Rachel;
Zhao, Xiao-Nan;
Entezam, Ali;
Usdin, Karen

Publication type:

Article

Pharmacogenomics: novel loci identification via integrating gene differential analysis and eQTL analysis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 5017, doi. 10.1093/hmg/ddu191

By:

Qiu, Weiliang;
Rogers, Angela J;
Damask, Amy;
Raby, Benjamin A;
Klanderman, Barbara J.;
Duan, Qing Ling;
Tyagi, Shiva;
Niu, Simin;
Anderson, Christopher;
Cahir-Mcfarland, Ellen;
Mariani, Thomas J.;
Carey, Vincent;
Tantisira, Kelan G

Publication type:

Article

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4758, doi. 10.1093/hmg/ddu190

By:

Fogel, Brent L.;
Cho, Ellen;
Wahnich, Amanda;
Gao, Fuying;
Becherel, Olivier J.;
Wang, Xizhe;
Fike, Francesca;
Chen, Leslie;
Criscuolo, Chiara;
De Michele, Giuseppe;
Filla, Alessandro;
Collins, Abigail;
Hahn, Angelika F.;
Gatti, Richard A.;
Konopka, Genevieve;
Perlman, Susan;
Lavin, Martin F.;
Geschwind, Daniel H.;
Coppola, Giovanni

Publication type:

Article

Parkin-mediated reduction of nuclear and soluble TDP-43 reverses behavioral decline in symptomatic mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4960, doi. 10.1093/hmg/ddu211

By:

Wenqiang, Chen;
Lonskaya, Irina;
Hebron, Michaeline L.;
Ibrahim, Zainab;
Olszewski, Rafal T.;
Neale, Joseph H.;
Moussa, Charbel E.-H.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 18, p. NP, doi. 10.1093/hmg/ddu438
Publication type:: Article

Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4945, doi. 10.1093/hmg/ddu210

By:

Juang, Bi-Tzen;
Ludwig, Anna L.;
Benedetti, Kelli L.;
Gu, Chen;
Collins, Kimberly;
Morales, Christopher;
Asundi, Aarati;
Wittmann, Torsten;
L'Etoile, Noelle;
Hagerman, Paul J.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 18, p. NP, doi. 10.1093/hmg/ddu436
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 18, p. NP, doi. 10.1093/hmg/ddu432
Publication type:: Article

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4875, doi. 10.1093/hmg/ddu201

By:

Ambrosini, Elena;
Sicca, Federico;
Brignone, Maria S.;
D'Adamo, Maria C.;
Napolitano, Carlo;
Servettini, Ilenio;
Moro, Francesca;
Ruan, Yanfei;
Guglielmi, Luca;
Pieroni, Stefania;
Servillo, Giuseppe;
Lanciotti, Angela;
Valvo, Giulia;
Catacuzzeno, Luigi;
Franciolini, Fabio;
Molinari, Paola;
Marchese, Maria;
Grottesi, Alessandro;
Guerrini, Renzo;
Santorelli, Filippo M.

Publication type:

Article

Genetic deletion of TNFRII gene enhances the Alzheimer-like pathology in an APP transgenic mouse model via reduction of phosphorylated IκBα.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4906, doi. 10.1093/hmg/ddu206

By:

Jiang, Hong;
He, Ping;
Xie, Junxia;
Staufenbiel, Matthias;
Li, Rena;
Shen, Yong

Publication type:

Article

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 5009, doi. 10.1093/hmg/ddu218

By:

Houten, Sander M.;
Denis, Simone;
te Brinke, Heleen;
Jongejan, Aldo;
van Kampen, Antoine H.C.;
Bradley, Edward J.;
Baas, Frank;
Hennekam, Raoul C.M.;
Millington, David S.;
Young, Sarah P.;
Frazier, Dianne M.;
Gucsavas-Calikoglu, Muge;
Wanders, Ronald J.A.

Publication type:

Article

Genetically altering organismal metabolism by leptin-deficiency benefits a mouse model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4995, doi. 10.1093/hmg/ddu214

By:

Lim, Maria A.;
Bence, Kendra K.;
Sandesara, Ishani;
Andreux, Pénélope;
Auwerx, Johan;
Ishibashi, Jeff;
Seale, Patrick;
Kalb, Robert G.

Publication type:

Article

The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4814, doi. 10.1093/hmg/ddu196

By:

Linnertz, Colton;
Lutz, Michael W.;
Ervin, John F.;
Allen, Jawara;
Miller, Natalie R.;
Welsh-Bohmer, Kathleen A.;
Roses, Allen D.;
Chiba-Falek, Ornit

Publication type:

Article

Comparison of epigenetic mediator expression and function in mouse and human embryonic blastomeres.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4970, doi. 10.1093/hmg/ddu212

By:

Chavez, Shawn L.;
McElroy, Sohyun L.;
Bossert, Nancy L.;
De Jonge, Christopher J.;
Rodriguez, Maria Vera;
Leong, Denise E.;
Behr, Barry;
Westphal, Lynn M.;
Reijo Pera, Renee A.

Publication type:

Article

Cisd2 modulates the differentiation and functioning of adipocytes by regulating intracellular Ca2+ homeostasis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4770, doi. 10.1093/hmg/ddu193

By:

Wang, Chih-Hao;
Chen, Yi-Fan;
Wu, Chia-Yu;
Wu, Pei-Chun;
Huang, Yi-Long;
Kao, Cheng-Heng;
Lin, Chao-Hsiung;
Kao, Lung-Sen;
Tsai, Ting-Fen;
Wei, Yau-Huei

Publication type:

Article

Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4832, doi. 10.1093/hmg/ddu198

By:

Osman, Erkan Y.;
Miller, Madeline R.;
Robbins, Kate L.;
Lombardi, Abby M.;
Atkinson, Arleigh K.;
Brehm, Amanda J.;
Lorson, Christian L.

Publication type:

Article

The genetic landscape of infantile spasms.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4846, doi. 10.1093/hmg/ddu199

By:

Michaud, Jacques L.;
Lachance, Mathieu;
Hamdan, Fadi F.;
Carmant, Lionel;
Lortie, Anne;
Diadori, Paola;
Major, Philippe;
Meijer, Inge A.;
Lemyre, Emmanuelle;
Cossette, Patrick;
Mefford, Heather C.;
Rouleau, Guy A.;
Rossignol, Elsa

Publication type:

Article

A Parkinson's disease gene regulatory network identifies the signaling protein RGS2 as a modulator of LRRK2 activity and neuronal toxicity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4887, doi. 10.1093/hmg/ddu202

By:

Dusonchet, Julien;
Li, Hu;
Guillily, Maria;
Liu, Min;
Stafa, Klodjan;
Derada Troletti, Claudio;
Boon, Joon Y.;
Saha, Shamol;
Glauser, Liliane;
Mamais, Adamantios;
Citro, Allison;
Youmans, Katherine L.;
Liu, LiQun;
Schneider, Bernard L.;
Aebischer, Patrick;
Yue, Zhenyu;
Bandopadhyay, Rina;
Glicksman, Marcie A.;
Moore, Darren J.;
Collins, James J.

Publication type:

Article

Connective tissue alterations in Fkbp10−/− mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4822, doi. 10.1093/hmg/ddu197

By:

Lietman, Caressa D.;
Rajagopal, Abbhirami;
Homan, Erica P.;
Munivez, Elda;
Jiang, Ming-Ming;
Bertin, Terry K.;
Chen, Yuqing;
Hicks, John;
Weis, MaryAnn;
Eyre, David;
Lee, Brendan;
Krakow, Deborah

Publication type:

Article

Rapid depletion of muscle progenitor cells in dystrophic mdx/utrophin−/− mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4786, doi. 10.1093/hmg/ddu194

By:

Lu, Aiping;
Poddar, Minakshi;
Tang, Ying;
Proto, Jonathan D.;
Sohn, Jihee;
Mu, Xiaodong;
Oyster, Nicholas;
Wang, Bing;
Huard, Johnny

Publication type:

Article

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4745, doi. 10.1093/hmg/ddu189

By:

Bricceno, Katherine V.;
Martinez, Tara;
Leikina, Evgenia;
Duguez, Stephanie;
Partridge, Terence A.;
Chernomordik, Leonid V.;
Fischbeck, Kenneth H.;
Sumner, Charlotte J.;
Burnett, Barrington G.

Publication type:

Article

An mTOR anti-sense oligonucleotide decreases polycystic kidney disease in mice with a targeted mutation in Pkd2.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 18, p. 4919, doi. 10.1093/hmg/ddu208

By:

Ravichandran, Kameswaran;
Zafar, Iram;
He, Zhibin;
Doctor, R. Brian;
Moldovan, Radu;
Mullick, Adam E.;
Edelstein, Charles L.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 18, p. NP, doi. 10.1093/hmg/ddu434
Publication type:: Article