Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 22

Results: 22

ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neurons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4888, doi. 10.1093/hmg/dds325

By:

Joselin, Alvin P.;
Hewitt, Sarah J.;
Callaghan, Steve M.;
Kim, Raymond H.;
Chung, Young-Hwa;
Mak, Tak W.;
Shen, Jie;
Slack, Ruth S.;
Park, David S.

Publication type:

Article

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4996

By:

Keller, Margaux F.;
Saad, Mohamad;
Bras, Jose;
Bettella, Francesco;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Mittag, Florian;
Büchel, Finja;
Sharma, Manu;
Gibbs, J. Raphael;
Schulte, Claudia;
Moskvina, Valentina;
Durr, Alexandra;
Holmans, Peter;
Kilarski, Laura L.;
Guerreiro, Rita;
Hernandez, Dena G.;
Brice, Alexis;
Ylikotila, Pauli;
Stefánsson, Hreinn

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 22, p. NP, doi. 10.1093/hmg/dds452
Publication type:: Article

Converging evidence that sequence variations in the novel candidate gene MAP2K7 (MKK7) are functionally associated with schizophrenia.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4910, doi. 10.1093/hmg/dds331

By:

Winchester, Catherine L.;
Ohzeki, Hiromitsu;
Vouyiouklis, Demetrius A.;
Thompson, Rhiannon;
Penninger, Josef M.;
Yamagami, Keiji;
Norrie, John D.;
Hunter, Robert;
Pratt, Judith A.;
Morris, Brian J.

Publication type:

Article

High-content RNAi screening identifies the Type 1 inositol triphosphate receptor as a modifier of TDP-43 localization and neurotoxicity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4845, doi. 10.1093/hmg/dds321

By:

Kim, Sang Hwa;
Zhan, Lihong;
Hanson, Keith A.;
Tibbetts, Randal S.

Publication type:

Article

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4980, doi. 10.1093/hmg/dds334

By:

Timofeeva, Maria N.;
Hung, Rayjean J.;
Rafnar, Thorunn;
Christiani, David C.;
Field, John K.;
Bickeböller, Heike;
Risch, Angela;
McKay, James D.;
Wang, Yufei;
Dai, Juncheng;
Gaborieau, Valerie;
McLaughlin, John;
Brenner, Darren;
Narod, Steven A.;
Caporaso, Neil E.;
Albanes, Demetrius;
Thun, Michael;
Eisen, Timothy;
Wichmann, H.-Erich;
Rosenberger, Albert

Publication type:

Article

LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4966, doi. 10.1093/hmg/dds342

By:

Berwick, Daniel C.;
Harvey, Kirsten

Publication type:

Article

Comparative analysis of somatic copy-number alterations across different human cancer types reveals two distinct classes of breakpoint hotspots.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4957, doi. 10.1093/hmg/dds340

By:

Li, Yudong;
Zhang, Li;
Ball, Robyn L.;
Liang, Xinle;
Li, Jianrong;
Lin, Zhenguo;
Liang, Han

Publication type:

Article

Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4939, doi. 10.1093/hmg/dds337

By:

Møllersen, Linda;
Rowe, Alexander D.;
Illuzzi, Jennifer L.;
Hildrestrand, Gunn A.;
Gerhold, Katharina J.;
Tveterås, Linda;
Bjølgerud, Anja;
Wilson, David M.;
Bjørås, Magnar;
Klungland, Arne

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 22, p. NP, doi. 10.1093/hmg/dds461
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 22, p. NP, doi. 10.1093/hmg/dds458
Publication type:: Article

Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4876, doi. 10.1093/hmg/dds324

By:

Elrick, Matthew J.;
Yu, Ting;
Chung, Chan;
Lieberman, Andrew P.

Publication type:

Article

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4836, doi. 10.1093/hmg/dds315

By:

Wells, Timothy;
Davies, Jennifer R.;
Guschina, Irina A.;
Ball, Daniel J.;
Davies, Jeffrey S.;
Davies, Vanessa J.;
Evans, Bronwen A. J.;
Votruba, Marcela

Publication type:

Article

Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4922, doi. 10.1093/hmg/dds333

By:

El Wakil, Abeer;
Bandulik, Sascha;
Guy, Nicolas;
Bendahhou, Saïd;
Zennaro, Maria-Christina;
Niehrs, Christof;
Mari, Bernard;
Warth, Richard;
Barhanin, Jacques;
Lalli, Enzo

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 22, p. NP, doi. 10.1093/hmg/dds455
Publication type:: Article

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4930, doi. 10.1093/hmg/dds336

By:

Birnbaum, Ramon Y.;
Everman, David B.;
Murphy, Karl K.;
Gurrieri, Fiorella;
Schwartz, Charles E.;
Ahituv, Nadav

Publication type:

Article

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4948, doi. 10.1093/hmg/dds338

By:

Salewsky, Bastian;
Schmiester, Maren;
Schindler, Detlev;
Digweed, Martin;
Demuth, Ilja

Publication type:

Article

Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4817, doi. 10.1093/hmg/dds311

By:

Pham, Anh H.;
Meng, Shuxia;
Chu, Quynh N.;
Chan, David C.

Publication type:

Article

Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4857, doi. 10.1093/hmg/dds322

By:

Maulik, Mahua;
Ghoshal, Bibaswan;
Kim, John;
Wang, Yanlin;
Yang, Jing;
Westaway, David;
Kar, Satyabrata

Publication type:

Article

Pancreatic beta-cell function and type 2 diabetes risk: quantify the causal effect using a Mendelian randomization approach based on meta-analyses.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 5010, doi. 10.1093/hmg/dds339

By:

Song, Yiqing;
Yeung, Edwina;
Liu, Aiyi;
VanderWeele, Tyler J.;
Chen, Liwei;
Lu, Chen;
Liu, Chunling;
Schisterman, Enrique F.;
Ning, Yi;
Zhang, Cuilin

Publication type:

Article

Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4827, doi. 10.1093/hmg/dds352

By:

Lee, Seungmin;
Sterky, Fredrik H.;
Mourier, Arnaud;
Terzioglu, Mügen;
Cullheim, Staffan;
Olson, Lars;
Larsson, Nils-Göran

Publication type:

Article

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 22, p. 4904, doi. 10.1093/hmg/dds326

By:

Campeau, Philippe M.;
Lu, James T.;
Sule, Gautam;
Jiang, Ming-Ming;
Bae, Yangjin;
Madan, Simran;
Högler, Wolfgang;
Shaw, Nicholas J.;
Mumm, Steven;
Gibbs, Richard A.;
Whyte, Michael P.;
Lee, Brendan H.

Publication type:

Article