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

Results: 27

Phosphorodiamidate morpholino oligomers suppress mutant huntingtin expression and attenuate neurotoxicity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6302, doi. 10.1093/hmg/ddu349

By:

Sun, Xin;
Marque, Leonard O.;
Cordner, Zachary;
Pruitt, Jennifer L.;
Bhat, Manik;
Li, Pan P.;
Kannan, Geetha;
Ladenheim, Ellen E.;
Moran, Timothy H.;
Margolis, Russell L.;
Rudnicki, Dobrila D.

Publication type:

Article

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6395, doi. 10.1093/hmg/ddu335

By:

Strauss, Kevin A.;
Markx, Sander;
Georgi, Benjamin;
Paul, Steven M.;
Jinks, Robert N.;
Hoshi, Toshinori;
McDonald, Ann;
First, Michael B.;
Liu, Wencheng;
Benkert, Abigail R.;
Heaps, Adam D.;
Tian, Yutao;
Chakravarti, Aravinda;
Bucan, Maja;
Puffenberger, Erik G.

Publication type:

Article

Expanding the clinical phenotypes of MT-ATP6 mutations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6191

By:

López-Gallardo, Ester;
Emperador, Sonia;
Solano, Abelardo;
Llobet, Laura;
Martín-Navarro, Antonio;
López-Pérez, Manuel José;
Briones, Paz;
Pineda, Mercedes;
Artuch, Rafael;
Barraquer, Elena;
Jericó, Ivonne;
Ruiz-Pesini, Eduardo;
Montoya, Julio

Publication type:

Article

The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6260, doi. 10.1093/hmg/ddu345

By:

Stuck, Michael W.;
Conley, Shannon M.;
Naash, Muna I.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu569
Publication type:: Article

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6163, doi. 10.1093/hmg/ddu337

By:

Minocherhomji, Sheroy;
Hansen, Claus;
Kim, Hyung-Goo;
Mang, Yuan;
Bak, Mads;
Guldberg, Per;
Papadopoulos, Nickolas;
Eiberg, Hans;
Doh, Gerald Dayebga;
Møllgård, Kjeld;
Hertz, Jens Michael;
Nielsen, Jørgen E.;
Ropers, Hans-Hilger;
Tümer, Zeynep;
Tommerup, Niels;
Kalscheuer, Vera M.;
Silahtaroglu, Asli

Publication type:

Article

Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6275, doi. 10.1093/hmg/ddu347

By:

Iglesias-Platas, Isabel;
Martin-Trujillo, Alex;
Petazzi, Paolo;
Guillaumet-Adkins, Amy;
Esteller, Manel;
Monk, David

Publication type:

Article

Early miR-155 upregulation contributes to neuroinflammation in Alzheimer's disease triple transgenic mouse model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6286, doi. 10.1093/hmg/ddu348

By:

Guedes, Joana R.;
Custódia, Carlos M.;
Silva, Ricardo J.;
de Almeida, Luís P.;
Pedroso de Lima, Maria C.;
Cardoso, Ana L.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu570
Publication type:: Article

Deficiency of Ube3a in Huntington's disease mice brain increases aggregate load and accelerates disease pathology.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6235, doi. 10.1093/hmg/ddu343

By:

Maheshwari, Megha;
Shekhar, Shashi;
Singh, Brijesh Kumar;
Jamal, Imran;
Vatsa, Naman;
Kumar, Vipendra;
Sharma, Ankit;
Jana, Nihar Ranjan

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu567
Publication type:: Article

The catecholamine biosynthetic enzyme dopamine β-hydroxylase (DBH): first genome-wide search positions trait-determining variants acting additively in the proximal promoter.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6375, doi. 10.1093/hmg/ddu332

By:

Mustapic, Maja;
Maihofer, Adam X.;
Mahata, Manjula;
Chen, Yuqing;
Baker, Dewleen G.;
O'Connor, Daniel T.;
Nievergelt, Caroline M.

Publication type:

Article

Loss of MITF expression during human embryonic stem cell differentiation disrupts retinal pigment epithelium development and optic vesicle cell proliferation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6332, doi. 10.1093/hmg/ddu351

By:

Capowski, Elizabeth E.;
Simonett, Joseph M.;
Clark, Eric M.;
Wright, Lynda S.;
Howden, Sara E.;
Wallace, Kyle A.;
Petelinsek, Anna M.;
Pinilla, Isabel;
Phillips, M. Joseph;
Meyer, Jason S.;
Schneider, Bernard L.;
Thomson, James A.;
Gamm, David M.

Publication type:

Article

A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6385, doi. 10.1093/hmg/ddu333

By:

Chu, Minjie;
Ji, Xiaoming;
Chen, Weihong;
Zhang, Ruyang;
Sun, Chongqi;
Wang, Ting;
Luo, Chen;
Gong, Jianhang;
Zhu, Meng;
Fan, Jingjing;
Hou, Zhiguo;
Dai, Juncheng;
Jin, Guangfu;
Wu, Tangchun;
Chen, Feng;
Hu, Zhibin;
Ni, Chunhui;
Shen, Hongbing

Publication type:

Article

Neural deletion of Tgfbr2 impairs angiogenesis through an altered secretome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6177, doi. 10.1093/hmg/ddu338

By:

Hellbach, Nicole;
Weise, Stefan C.;
Vezzali, Riccardo;
Wahane, Shalaka D.;
Heidrich, Stefanie;
Roidl, Deborah;
Pruszak, Jan;
Esser, Jennifer S.;
Vogel, Tanja

Publication type:

Article

Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6246, doi. 10.1093/hmg/ddu344

By:

Ideraabdullah, Folami Y.;
Thorvaldsen, Joanne L.;
Myers, Jennifer A.;
Bartolomei, Marisa S.

Publication type:

Article

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6345, doi. 10.1093/hmg/ddu352

By:

Wilson, William C.;
Hornig-Do, Hue-Tran;
Bruni, Francesco;
Chang, Jeong Ho;
Jourdain, Alexis A.;
Martinou, Jean-Claude;
Falkenberg, Maria;
Spåhr, Henrik;
Larsson, Nils-Göran;
Lewis, Richard J.;
Hewitt, Lorraine;
Baslé, Arnaud;
Cross, Harold E.;
Tong, Liang;
Lebel, Robert R.;
Crosby, Andrew H.;
Chrzanowska-Lightowlers, Zofia M. A.;
Lightowlers, Robert N.

Publication type:

Article

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6356, doi. 10.1093/hmg/ddu357

By:

Wanschers, Bas F.J.;
Szklarczyk, Radek;
van den Brand, Mariël A.M.;
Jonckheere, An;
Suijskens, Janneke;
Smeets, Roel;
Rodenburg, Richard J.;
Stephan, Katharina;
Helland, Ingrid B.;
Elkamil, Areej;
Rootwelt, Terje;
Ott, Martin;
van den Heuvel, Lambert;
Nijtmans, Leo G.;
Huynen, Martijn A.

Publication type:

Article

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6147, doi. 10.1093/hmg/ddu336

By:

Nicholls, Thomas J.;
Zsurka, Gábor;
Peeva, Viktoriya;
Schöler, Susanne;
Szczesny, Roman J.;
Cysewski, Dominik;
Reyes, Aurelio;
Kornblum, Cornelia;
Sciacco, Monica;
Moggio, Maurizio;
Dziembowski, Andrzej;
Kunz, Wolfram S.;
Minczuk, Michal

Publication type:

Article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6139, doi. 10.1093/hmg/ddu334

By:

Bras, Jose;
Guerreiro, Rita;
Darwent, Lee;
Parkkinen, Laura;
Ansorge, Olaf;
Escott-Price, Valentina;
Hernandez, Dena G.;
Nalls, Michael A.;
Clark, Lorraine N.;
Honig, Lawrence S.;
Marder, Karen;
Van Der Flier, Wiesje M.;
Lemstra, Afina;
Scheltens, Philip;
Rogaeva, Ekaterina;
St George-Hyslop, Peter;
Londos, Elisabet;
Zetterberg, Henrik;
Ortega-Cubero, Sara;
Pastor, Pau

Publication type:

Article

Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6201, doi. 10.1093/hmg/ddu340

By:

Sang, Qing;
Zhang, Junyu;
Feng, Ruizhi;
Wang, Xu;
Li, Qiaoli;
Zhao, Xinzhi;
Xing, Qinghe;
Chen, Weiyu;
Du, Jiulin;
Sun, Shan;
Chai, Renjie;
Liu, Dong;
Jin, Li;
He, Lin;
Li, Huawei;
Wang, Lei

Publication type:

Article

MeCP2 regulates activity-dependent transcriptional responses in olfactory sensory neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6366, doi. 10.1093/hmg/ddu358

By:

Lee, Wooje;
Yun, Jung-Mi;
Woods, Rima;
Dunaway, Keith;
Yasui, Dag H.;
Lasalle, Janine M.;
Gong, Qizhi

Publication type:

Article

Lack of CCM1 induces hypersprouting and impairs response to flow.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6223, doi. 10.1093/hmg/ddu342

By:

Mleynek, Tara M.;
Chan, Aubrey C.;
Redd, Michael;
Gibson, Christopher C.;
Davis, Chadwick T.;
Shi, Dallas S.;
Chen, Tiehua;
Carter, Kandis L.;
Ling, Jing;
Blanco, Raquel;
Gerhardt, Holger;
Whitehead, Kevin;
Li, Dean Y.

Publication type:

Article

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6407, doi. 10.1093/hmg/ddu346

By:

Wolber, Lisa E.;
Girotto, Giorgia;
Buniello, Annalisa;
Vuckovic, Dragana;
Pirastu, Nicola;
Lorente-Cánovas, Beatriz;
Rudan, Igor;
Hayward, Caroline;
Polasek, Ozren;
Ciullo, Marina;
Mangino, Massimo;
Steves, Claire;
Concas, Maria Pina;
Cocca, Massilimiliano;
Spector, Tim D.;
Gasparini, Paolo;
Steel, Karen P.;
Williams, Frances M.K.

Publication type:

Article

Novel LRRK2 GTP-binding inhibitors reduced degeneration in Parkinson's disease cell and mouse models.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6212

By:

Li, Tianxia;
Yang, Dejun;
Zhong, Shijun;
Thomas, Joseph M.;
Xue, Fengtian;
Liu, Jingnan;
Kong, Lingbo;
Voulalas, Pamela;
Hassan, Hazem E.;
Park, Jae-Sung;
MacKerell, Alexander D.;
Smith, Wanli W.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu568
Publication type:: Article

SMN regulates axonal local translation via miR-183/mTOR pathway.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 23, p. 6318, doi. 10.1093/hmg/ddu350

By:

Kye, Min Jeong;
Niederst, Emily D.;
Wertz, Mary H.;
Gonçalves, Inês do Carmo G.;
Akten, Bikem;
Dover, Katarzyna Z.;
Peters, Miriam;
Riessland, Markus;
Neveu, Pierre;
Wirth, Brunhilde;
Kosik, Kenneth S.;
Sardi, S. Pablo;
Monani, Umrao R.;
Passini, Marco A.;
Sahin, Mustafa

Publication type:

Article