Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 14

Results: 22

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 14, p. NP, doi. 10.1093/hmg/dds249
Publication type:: Article

The GTPase ARFRP1 controls the lipidation of chylomicrons in the Golgi of the intestinal epithelium.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3128, doi. 10.1093/hmg/dds140

By:

Jaschke, Alexander;
Chung, Bomee;
Hesse, Deike;
Kluge, Reinhart;
Zahn, Claudia;
Moser, Markus;
Petzke, Klaus-Jürgen;
Brigelius-Flohé, Regina;
Puchkov, Dmytro;
Koepsell, Hermann;
Heeren, Joerg;
Joost, Hans-Georg;
Schürmann, Annette

Publication type:

Article

Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann–Pick type C disease fibroblasts.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3205, doi. 10.1093/hmg/dds145

By:

Yu, Ting;
Chung, Chan;
Shen, Dongbiao;
Xu, Haoxing;
Lieberman, Andrew P.

Publication type:

Article

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3193, doi. 10.1093/hmg/dds144

By:

Kramerova, I.;
Kudryashova, E.;
Ermolova, N.;
Saenz, A.;
Jaka, O.;
López de Munain, A.;
Spencer, M.J.

Publication type:

Article

Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3283, doi. 10.1093/hmg/dds137

By:

Guessous, Idris;
Dobrinas, Maria;
Kutalik, Zoltán;
Pruijm, Menno;
Ehret, Georg;
Maillard, Marc;
Bergmann, Sven;
Beckmann, Jacques S.;
Cusi, Daniele;
Rizzi, Federica;
Cappuccio, Franco;
Cornuz, Jacques;
Paccaud, Fred;
Mooser, Vincent;
Gaspoz, Jean-Michel;
Waeber, Gérard;
Burnier, Michel;
Vollenweider, Peter;
Eap, Chin B;
Bochud, Murielle

Publication type:

Article

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3156, doi. 10.1093/hmg/dds142

By:

Cossec, Jack-Christophe;
Lavaur, Jérémie;
Berman, Diego E.;
Rivals, Isabelle;
Hoischen, Alexander;
Stora, Samantha;
Ripoll, Clémentine;
Mircher, Clotilde;
Grattau, Yann;
OlivoMarin, Jean-Christophe;
de Chaumont, Fabrice;
Lecourtois, Magalie;
Antonarakis, Stylianos E.;
Veltman, Joris A.;
Delabar, Jean M.;
Duyckaerts, Charles;
Di Paolo, Gilbert;
Potier, Marie-Claude

Publication type:

Article

Validated SNPs for eGFR and their associations with albuminuria.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3293

By:

Ellis, Jaclyn W.;
Chen, Ming-Huei;
Foster, Meredith C.;
Liu, Ching-Ti;
Larson, Martin G.;
de Boer, Ian;
Köttgen, Anna;
Parsa, Afshin;
Bochud, Murielle;
Böger, Carsten A.;
Kao, Linda;
Fox, Caroline S.;
O'Seaghdha, Conall M.

Publication type:

Article

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3237, doi. 10.1093/hmg/dds157

By:

Friedrich, Felix W.;
Wilding, Brendan R.;
Reischmann, Silke;
Crocini, Claudia;
Lang, Patrick;
Charron, Philippe;
Müller, Oliver J.;
McGrath, Meagan J.;
Vollert, Ingra;
Hansen, Arne;
Linke, Wolfgang A.;
Hengstenberg, Christian;
Bonne, Gisèle;
Morner, Stellan;
Wichter, Thomas;
Madeira, Hugo;
Arbustini, Eloisa;
Eschenhagen, Thomas;
Mitchell, Christina A.;
Isnard, Richard

Publication type:

Article

The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3226, doi. 10.1093/hmg/dds156

By:

Way, Sharon W.;
Rozas, Natalia S.;
Wu, Henry C.;
McKenna, James;
Reith, R. Michelle;
Hashmi, S. Shahrukh;
Dash, Pramod K.;
Gambello, Michael J.

Publication type:

Article

Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3275, doi. 10.1093/hmg/dds136

By:

Rawal, Rajesh;
Teumer, Alexander;
Völzke, Henry;
Wallaschofski, Henri;
Ittermann, Till;
Åsvold, Bjørn O.;
Bjøro, Trine;
Greiser, Karin H.;
Tiller, Daniel;
Werdan, Karl;
Meyer zu Schwabedissen, Henriette E.;
Doering, Angela;
Illig, Thomas;
Gieger, Christian;
Meisinger, Christa;
Homuth, Georg

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 14, p. NP, doi. 10.1093/hmg/dds252
Publication type:: Article

Identification of a novel percent mammographic density locus at 12q24.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3299, doi. 10.1093/hmg/dds158

By:

Stevens, Kristen N.;
Lindstrom, Sara;
Scott, Christopher G.;
Thompson, Deborah;
Sellers, Thomas A.;
Wang, Xianshu;
Wang, Alice;
Atkinson, Elizabeth;
Rider, David N.;
Eckel-Passow, Jeanette E.;
Varghese, Jajini S.;
Audley, Tina;
Brown, Judith;
Leyland, Jean;
Luben, Robert N.;
Warren, Ruth M.L.;
Loos, Ruth J.F.;
Wareham, Nicholas J.;
Li, Jingmei;
Hall, Per

Publication type:

Article

α-Synuclein expression and Nrf2 deficiency cooperate to aggravate protein aggregation, neuronal death and inflammation in early-stage Parkinson's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3173, doi. 10.1093/hmg/dds143

By:

Lastres-Becker, Isabel;
Ulusoy, Ayse;
Innamorato, Nadia G.;
Sahin, Gurdal;
Rábano, Alberto;
Kirik, Deniz;
Cuadrado, Antonio

Publication type:

Article

Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3143, doi. 10.1093/hmg/dds141

By:

Paces-Fessy, Mélanie;
Fabre, Mélanie;
Lesaulnier, Céline;
Cereghini, Silvia

Publication type:

Article

Forkhead box protein p1 is a transcriptional repressor of immune signaling in the CNS: implications for transcriptional dysregulation in Huntington disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3097, doi. 10.1093/hmg/dds132

By:

Tang, Bin;
Becanovic, Kristina;
Desplats, Paula A.;
Spencer, Brian;
Hill, Austin M.;
Connolly, Colum;
Masliah, Eliezer;
Leavitt, Blair R.;
Thomas, Elizabeth A.

Publication type:

Article

Discovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3264, doi. 10.1093/hmg/dds170

By:

L'Hôte, David;
Georges, Adrien;
Todeschini, Anne Laure;
Kim, Jae-Hong;
Benayoun, Bérénice A.;
Bae, Jeehyeong;
Veitia, Reiner A.

Publication type:

Article

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3083, doi. 10.1093/hmg/dds124

By:

Lacaria, Melanie;
Spencer, Corinne;
Gu, Wenli;
Paylor, Richard;
Lupski, James R.

Publication type:

Article

Androgen-regulated processing of the oncomir MiR-27a, which targets Prohibitin in prostate cancer.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3112, doi. 10.1093/hmg/dds139

By:

Fletcher, Claire E.;
Dart, D. Alwyn;
Sita-Lumsden, Ailsa;
Cheng, Helen;
Rennie, Paul S.;
Bevan, Charlotte L.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 14, p. NP, doi. 10.1093/hmg/dds258
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 14, p. NP, doi. 10.1093/hmg/dds255
Publication type:: Article

Human DJ-1 and its homologs are novel glyoxalases.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3215, doi. 10.1093/hmg/dds155

By:

Lee, Ju-young;
Song, Jeeyeon;
Kwon, Kyu;
Jang, Sumi;
Kim, Chayeon;
Baek, Kwanghee;
Kim, Jeongho;
Park, Chankyu

Publication type:

Article

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 14, p. 3255, doi. 10.1093/hmg/dds165

By:

Smemo, Scott;
Campos, Luciene C.;
Moskowitz, Ivan P.;
Krieger, José E.;
Pereira, Alexandre C.;
Nobrega, Marcelo A.

Publication type:

Article