Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 5

Results: 26

Presenilin influences glycogen synthase kinase-3 β (GSK-3β) for kinesin-1 and dynein function during axonal transport.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1121, doi. 10.1093/hmg/ddt505

By:

Dolma, Kunsang;
Iacobucci, Gary J.;
Hong Zheng, Kan;
Shandilya, Jayasha;
Toska, Eneda;
White, Joseph A.;
Spina, Elizabeth;
Gunawardena, Shermali

Publication type:

Article

Arap3 is dysregulated in a mouse model of hypotrichosis–lymphedema–telangiectasia and regulates lymphatic vascular development.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1286, doi. 10.1093/hmg/ddt518

By:

Kartopawiro, Joëlle;
Bower, Neil I.;
Karnezis, Tara;
Kazenwadel, Jan;
Betterman, Kelly L.;
Lesieur, Emmanuelle;
Koltowska, Katarzyna;
Astin, Jonathan;
Crosier, Philip;
Vermeren, Sonja;
Achen, Marc G.;
Stacker, Steven A.;
Smith, Kelly A.;
Harvey, Natasha L.;
François, Mathias;
Hogan, Benjamin M.

Publication type:

Article

Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1134, doi. 10.1093/hmg/ddt508

By:

Lyon, Robert C.;
Mezzano, Valeria;
Wright, Adam T.;
Pfeiffer, Emily;
Chuang, Joyce;
Banares, Katherine;
Castaneda, Allan;
Ouyang, Kunfu;
Cui, Li;
Contu, Riccardo;
Gu, Yusu;
Evans, Sylvia M.;
Omens, Jeffrey H.;
Peterson, Kirk L.;
McCulloch, Andrew D.;
Sheikh, Farah

Publication type:

Article

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1311, doi. 10.1093/hmg/ddt521

By:

Nouws, Jessica;
te Brinke, Heleen;
Nijtmans, Leo G.;
Houten, Sander M.

Publication type:

Article

Overexpression of metallothionein-I, a copper-regulating protein, attenuates intracellular copper dyshomeostasis and extends lifespan in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase-1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1271, doi. 10.1093/hmg/ddt517

By:

Tokuda, Eiichi;
Okawa, Eriko;
Watanabe, Shunsuke;
Ono, Shin-ichi

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 5, p. NP, doi. 10.1093/hmg/ddu061
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 5, p. NP, doi. 10.1093/hmg/ddu062
Publication type:: Article

Restoration of muscle strength in dystrophic muscle by angiotensin-1-7 through inhibition of TGF-β signalling.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1237

By:

Acuña, María José;
Pessina, Patrizia;
Olguin, Hugo;
Cabrera, Daniel;
Vio, Carlos P.;
Bader, Michael;
Muñoz-Canoves, Pura;
Santos, Robson A.;
Cabello-Verrugio, Claudio;
Brandan, Enrique

Publication type:

Article

Statin-induced changes in gene expression in EBV-transformed and native B-cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1202, doi. 10.1093/hmg/ddt512

By:

Bolotin, Eugene;
Armendariz, Angela;
Kim, Kyungpil;
Heo, Seok-Jin;
Boffelli, Dario;
Tantisira, Kelan;
Rotter, Jerome I.;
Krauss, Ronald M.;
Medina, Marisa W.

Publication type:

Article

NF1 is a critical regulator of muscle development and metabolism.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1250, doi. 10.1093/hmg/ddt515

By:

Sullivan, Kate;
El-Hoss, Jad;
Quinlan, Kate G.R.;
Deo, Nikita;
Garton, Fleur;
Seto, Jane T.C.;
Gdalevitch, Marie;
Turner, Nigel;
Cooney, Gregory J.;
Kolanczyk, Mateusz;
North, Kathryn N.;
Little, David G.;
Schindeler, Aaron

Publication type:

Article

Coregulation and modulation of NFκB-related genes in celiac disease: uncovered aspects of gut mucosal inflammation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1298, doi. 10.1093/hmg/ddt520

By:

Fernandez-Jimenez, Nora;
Castellanos-Rubio, Ainara;
Plaza-Izurieta, Leticia;
Irastorza, Iñaki;
Elcoroaristizabal, Xabier;
Jauregi-Miguel, Amaia;
Lopez-Euba, Tamara;
Tutau, Carlos;
de Pancorbo, Marian M.;
Vitoria, Juan Carlos;
Bilbao, Jose Ramon

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 5, p. NP, doi. 10.1093/hmg/ddu060
Publication type:: Article

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1211, doi. 10.1093/hmg/ddt513

By:

Cotton, Allison M.;
Chen, Chih-Yu;
Lam, Lucia L.;
Wasserman, Wyeth W.;
Kobor, Michael S.;
Brown, Carolyn J.

Publication type:

Article

Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1163, doi. 10.1093/hmg/ddt510

By:

Cazabat, Laure;
Ragazzon, Bruno;
Varin, Audrey;
Potier-Cartereau, Marie;
Vandier, Christophe;
Vezzosi, Delphine;
Risk-Rabin, Marthe;
Guellich, Aziz;
Schittl, Julia;
Lechêne, Patrick;
Richter, Wito;
Nikolaev, Viacheslav O.;
Zhang, Jin;
Bertherat, Jérôme;
Vandecasteele, Grégoire

Publication type:

Article

Cross-sectional and longitudinal changes in DNA methylation with age: an epigenome-wide analysis revealing over 60 novel age-associated CpG sites.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1186, doi. 10.1093/hmg/ddt531

By:

Florath, Ines;
Butterbach, Katja;
Müller, Heiko;
Bewerunge-Hudler, Melanie;
Brenner, Hermann

Publication type:

Article

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1320, doi. 10.1093/hmg/ddt522

By:

Iglesias, Adriana I.;
Springelkamp, Henriët;
van der Linde, Herma;
Severijnen, Lies-Anne;
Amin, Najaf;
Oostra, Ben;
Kockx, Christel E. M.;
van den Hout, Mirjam C. G. N.;
van IJcken, Wilfred F. J.;
Hofman, Albert;
Uitterlinden, André G.;
Verdijk, Rob M.;
Klaver, Caroline C. W.;
Willemsen, Rob;
van Duijn, Cornelia M.

Publication type:

Article

A methylome-wide study of aging using massively parallel sequencing of the methyl-CpG-enriched genomic fraction from blood in over 700 subjects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1175, doi. 10.1093/hmg/ddt511

By:

McClay, Joseph L.;
Aberg, Karolina A.;
Clark, Shaunna L.;
Nerella, Srilaxmi;
Kumar, Gaurav;
Xie, Lin Y.;
Hudson, Alexandra D.;
Harada, Aki;
Hultman, Christina M.;
Magnusson, Patrik K.E.;
Sullivan, Patrick F.;
Van Den Oord, Edwin J.C.G.

Publication type:

Article

Genome-wide association study identifies multiple loci associated with bladder cancer risk.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1387, doi. 10.1093/hmg/ddt519

By:

Figueroa, Jonine D.;
Ye, Yuanqing;
Siddiq, Afshan;
Garcia-Closas, Montserrat;
Chatterjee, Nilanjan;
Prokunina-Olsson, Ludmila;
Cortessis, Victoria K.;
Kooperberg, Charles;
Cussenot, Olivier;
Benhamou, Simone;
Prescott, Jennifer;
Porru, Stefano;
Dinney, Colin P.;
Malats, Núria;
Baris, Dalsu;
Purdue, Mark;
Jacobs, Eric J.;
Albanes, Demetrius;
Wang, Zhaoming;
Deng, Xiang

Publication type:

Article

Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1333, doi. 10.1093/hmg/ddt523

By:

Llewellyn, Katrina J.;
Nalbandian, Angèle;
Jung, Kwang-Mook;
Nguyen, Christopher;
Avanesian, Agnesa;
Mozaffar, Tahseen;
Piomelli, Daniele;
Kimonis, Virginia E.

Publication type:

Article

Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1151, doi. 10.1093/hmg/ddt509

By:

Oldenburg, Anja R.;
Delbarre, Erwan;
Thiede, Bernd;
Vigouroux, Corinne;
Collas, Philippe

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 5, p. NP, doi. 10.1093/hmg/ddu063
Publication type:: Article

Sex-biased methylome and transcriptome in human prefrontal cortex.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1260, doi. 10.1093/hmg/ddt516

By:

Xu, Hongqin;
Wang, Fan;
Liu, Yawen;
Yu, Yaqin;
Gelernter, Joel;
Zhang, Huiping

Publication type:

Article

Human APOE genotype affects intraneuronal Aβ1–42 accumulation in a lentiviral gene transfer model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1365, doi. 10.1093/hmg/ddt525

By:

Zhao, Wenjuan;
Dumanis, Sonya B.;
Tamboli, Irfan Y.;
Rodriguez, Gustavo A.;
Jo LaDu, Mary;
Moussa, Charbel E.H.;
William Rebeck, G.

Publication type:

Article

Systems biology analysis of Drosophila in vivo screen data elucidates core networks for DNA damage repair in SCA1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1345, doi. 10.1093/hmg/ddt524

By:

Barclay, Sam S.;
Tamura, Takuya;
Ito, Hikaru;
Fujita, Kyota;
Tagawa, Kazuhiko;
Shimamura, Teppei;
Katsuta, Asuka;
Shiwaku, Hiroki;
Sone, Masaki;
Imoto, Seiya;
Miyano, Satoru;
Okazawa, Hitoshi

Publication type:

Article

Transcriptional activation of TFEB/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1376, doi. 10.1093/hmg/ddt527

By:

Chua, Jason P.;
Reddy, Satya L.;
Merry, Diane E.;
Adachi, Hiroaki;
Katsuno, Masahisa;
Sobue, Gen;
Robins, Diane M.;
Lieberman, Andrew P.

Publication type:

Article

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 5, p. 1224, doi. 10.1093/hmg/ddt553

By:

Bala Tannan, Neeta;
Brahmachary, Manisha;
Garg, Paras;
Borel, Christelle;
Alnefaie, Randah;
Watson, Corey T.;
Thomas, N. Simon;
Sharp, Andrew J.

Publication type:

Article