Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 10

Results: 24

Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2245, doi. 10.1093/hmg/dds040

By:

Vidal, Rene L.;
Figueroa, Alicia;
Court, Felipe A.;
Thielen, Peter;
Molina, Claudia;
Wirth, Craig;
Caballero, Benjamin;
Kiffin, Roberta;
Segura-Aguilar, Juan;
Cuervo, Ana Maria;
Glimcher, Laurie H.;
Hetz, Claudio

Publication type:

Article

A coding variant in CR1 interacts with APOE-ɛ4 to influence cognitive decline.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2377

By:

Keenan, Brendan T.;
Shulman, Joshua M.;
Chibnik, Lori B.;
Raj, Towfique;
Tran, Dong;
Sabuncu, Mert R.;
Allen, April N.;
Corneveaux, Jason J.;
Hardy, John A.;
Huentelman, Matthew J.;
Lemere, Cynthia A.;
Myers, Amanda J.;
Nicholson-Weller, Anne;
Reiman, Eric M.;
Evans, Denis A.;
Bennett, David A.;
De Jager, Philip L.

Publication type:

Article

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2233, doi. 10.1093/hmg/dds038

By:

Saha, Arjun;
Sarkar, Chinmoy;
Singh, Satya P.;
Zhang, Zhongjian;
Munasinghe, Jeeva;
Peng, Shiyong;
Chandra, Goutam;
Kong, Eryan;
Mukherjee, Anil B.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 10, p. NP, doi. 10.1093/hmg/dds147
Publication type:: Article

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2341, doi. 10.1093/hmg/dds053

By:

Agrawal, Pankaj B.;
Joshi, Mugdha;
Savic, Talia;
Chen, Zoe;
Beggs, Alan H.

Publication type:

Article

MicroRNA-22 is induced by vitamin D and contributes to its antiproliferative, antimigratory and gene regulatory effects in colon cancer cells.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2157, doi. 10.1093/hmg/dds031

By:

Alvarez-Díaz, Silvia;
Valle, Noelia;
Ferrer-Mayorga, Gemma;
Lombardía, Luis;
Herrera, Mercedes;
Domínguez, Orlando;
Segura, Miguel F.;
Bonilla, Félix;
Hernando, Eva;
Muñoz, Alberto

Publication type:

Article

OLIG2 over-expression impairs proliferation of human Down syndrome neural progenitors.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2330, doi. 10.1093/hmg/dds052

By:

Lu, Jie;
Lian, Gewei;
Zhou, Hui;
Esposito, Giuseppe;
Steardo, Luca;
Delli-Bovi, Laurent C.;
Hecht, Jonathan L.;
Lu, Q. Richard;
Sheen, Volney

Publication type:

Article

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2219, doi. 10.1093/hmg/dds037

By:

Pouladi, Mahmoud A.;
Stanek, Lisa M.;
Xie, Yuanyun;
Franciosi, Sonia;
Southwell, Amber L.;
Deng, Yu;
Butland, Stefanie;
Zhang, Weining;
Cheng, Seng H.;
Shihabuddin, Lamya S.;
Hayden, Michael R.

Publication type:

Article

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2205, doi. 10.1093/hmg/dds035

By:

Winkelmann, Juliane;
Lin, Ling;
Schormair, Barbara;
Kornum, Birgitte R.;
Faraco, Juliette;
Plazzi, Giuseppe;
Melberg, Atle;
Cornelio, Ferdinando;
Urban, Alexander E.;
Pizza, Fabio;
Poli, Francesca;
Grubert, Fabian;
Wieland, Thomas;
Graf, Elisabeth;
Hallmayer, Joachim;
Strom, Tim M.;
Mignot, Emmanuel

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 10, p. NP, doi. 10.1093/hmg/dds146
Publication type:: Article

Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2143, doi. 10.1093/hmg/dds030

By:

Till, Sally M.;
Wijetunge, Lasani S.;
Seidel, Viktoria G.;
Harlow, Emily;
Wright, Ann K.;
Bagni, Claudia;
Contractor, Anis;
Gillingwater, Thomas H.;
Kind, Peter C.

Publication type:

Article

Upregulation of brain utrophin does not rescue behavioral alterations in dystrophin-deficient mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2263, doi. 10.1093/hmg/dds047

By:

Perronnet, Caroline;
Chagneau, Carine;
Le Blanc, Pascale;
Samson-Desvignes, Nathalie;
Mornet, Dominique;
Laroche, Serge;
De La Porte, Sabine;
Vaillend, Cyrille

Publication type:

Article

Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2370, doi. 10.1093/hmg/dds039

By:

McKinney, Cushla;
Merriman, Tony R.

Publication type:

Article

Bcl-2-associated autophagy regulator Naf-1 required for maintenance of skeletal muscle.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2277, doi. 10.1093/hmg/dds048

By:

Chang, Natasha C.;
Nguyen, Mai;
Bourdon, Johanne;
Risse, Paul-André;
Martin, James;
Danialou, Gawiyou;
Rizzuto, Rosario;
Petrof, Basil J.;
Shore, Gordon C.

Publication type:

Article

Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profiling of the t(12;14) and evidence in support of predisposing genetic heterogeneity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2312, doi. 10.1093/hmg/dds051

By:

Hodge, Jennelle C.;
Kim, Tae-Min;
Dreyfuss, Jonathan M.;
Somasundaram, Priya;
Christacos, Nicole C.;
Rousselle, Marissa;
Quade, Bradley J.;
Park, Peter J.;
Stewart, Elizabeth A.;
Morton, Cynthia C.

Publication type:

Article

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2181, doi. 10.1093/hmg/dds033

By:

Kerzendorfer, Claudia;
Hannes, Femke;
Colnaghi, Rita;
Abramowicz, Iga;
Carpenter, Gillian;
Vermeesch, Joris Robert;
O'Driscoll, Mark

Publication type:

Article

Increased mitochondrial biogenesis in muscle improves aging phenotypes in the mtDNA mutator mouse.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2288, doi. 10.1093/hmg/dds049

By:

Dillon, Lloye M.;
Williams, Siôn L.;
Hida, Aline;
Peacock, Jacqueline D.;
Prolla, Tomas A.;
Lincoln, Joy;
Moraes, Carlos T.

Publication type:

Article

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2357, doi. 10.1093/hmg/dds056

By:

Viringipurampeer, Ishaq A.;
Ferreira, Todd;
DeMaria, Shannon;
Yoon, Jookyung J.;
Shan, Xianghong;
Moosajee, Mariya;
Gregory-Evans, Kevin;
Ngai, John;
Gregory-Evans, Cheryl Y.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 10, p. NP, doi. 10.1093/hmg/dds149
Publication type:: Article

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2211, doi. 10.1093/hmg/dds036

By:

Stochmanski, Shawn J.;
Therrien, Martine;
Laganière, Janet;
Rochefort, Daniel;
Laurent, Sandra;
Karemera, Liliane;
Gaudet, Rebecca;
Vyboh, Kishanda;
Van Meyel, Don J.;
Di Cristo, Graziella;
Dion, Patrick A.;
Gaspar, Claudia;
Rouleau, Guy A.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 10, p. NP, doi. 10.1093/hmg/dds148
Publication type:: Article

Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2194, doi. 10.1093/hmg/dds034

By:

Sakabe, Noboru J.;
Aneas, Ivy;
Shen, Tao;
Shokri, Leila;
Park, Soo-Young;
Bulyk, Martha L.;
Evans, Sylvia M.;
Nobrega, Marcelo A.

Publication type:

Article

Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2298, doi. 10.1093/hmg/dds050

By:

Jaillard, Céline;
Mouret, Aurélie;
Niepon, Marie-Laure;
Clérin, Emmanuelle;
Yang, Ying;
Lee-Rivera, Irene;
Aït-Ali, Najate;
Millet-Puel, Géraldine;
Cronin, Thérèse;
Sedmak, Tina;
Raffelsberger, Wolfgang;
Kinzel, Bernd;
Trembleau, Alain;
Poch, Olivier;
Bennett, Jean;
Wolfrum, Uwe;
Lledo, Pierre-Marie;
Sahel, José-Alain;
Léveillard, Thierry

Publication type:

Article

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2166, doi. 10.1093/hmg/dds032

By:

Lanciotti, Angela;
Brignone, Maria S.;
Molinari, Paola;
Visentin, Sergio;
De Nuccio, Chiara;
Macchia, Gianfranco;
Aiello, Chiara;
Bertini, Enrico;
Aloisi, Francesca;
Petrucci, Tamara C.;
Ambrosini, Elena

Publication type:

Article