Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 15

Results: 18

Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3192, doi. 10.1093/hmg/ddw168

By:

Warner, Timothy A.;
Wangzhen Shen;
Xuan Huang;
Zhong Liu;
Macdonald, Robert L.;
Jing-Qiong Kang

Publication type:

Article

A transgenic mouse expressing CHMP2B<sup>intron5</sup> mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3341, doi. 10.1093/hmg/ddw182

By:

Vernay, Aurélia;
Therreau, Ludivine;
Blot, Béatrice;
Risson, Valérie;
Dirrig-Grosch, Sylvie;
Waegaert, Robin;
Lequeu, Thiebault;
Sellal, François;
Schaeffer, Laurent;
Sadoul, Rémy;
Loeffler, Jean-Philippe;
René, Frédérique

Publication type:

Article

a.iPSC-derived LewisX+CXCR4+β1-integrin + neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3152, doi. 10.1093/hmg/ddw163

By:

Nizzardo, Monica;
Bucchia, Monica;
Ramirez, Agnese;
Trombetta, Elena;
Bresolin, Nereo;
Comi, Giacomo P.;
Corti, Stefania

Publication type:

Article

MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3303, doi. 10.1093/hmg/ddw179

By:

Patterson, Kelsey C.;
Hawkins, Virginia E.;
Arps, Kara M.;
Mulkey, Daniel K.;
Olsen, Michelle L.

Publication type:

Article

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3284, doi. 10.1093/hmg/ddw178

By:

Veeraragava, Surabi;
Ying-Wooi Wan;
Connolly, Daniel R.;
Hamilton, Shannon M.;
Ward, Christopher S.;
Soriano, Sirena;
Pitcher, Meagan R.;
McGraw, Christopher M.;
Huang, Sharon G.;
Green, Jennie R.;
Yuva, Lisa A.;
Liang, Agnes J.;
Neul, Jeffrey L.;
Yasui, Dag H.;
LaSalle, Janine M.;
Zhandong Liu;
Paylor, Richard;
Samaco, Rodney C.

Publication type:

Article

Sustained AMPK activation improves muscle function in a mitochondrial myopathy mouse model by promoting muscle fiber regeneration.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3178, doi. 10.1093/hmg/ddw167

By:

Peralta, Susana;
Garcia, Sofia;
Han Yang Yin;
Arguello, Tania;
Diaz, Francisca;
Moraes, Carlos T.

Publication type:

Article

Intergenic GWAS SNPs are key components of the spatial and regulatory network for human growth.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3372, doi. 10.1093/hmg/ddw165

By:

Schierding, William;
Antony, Jisha;
Cutfield, Wayne S.;
Horsfield, Julia A.;
O'Sullivan, Justin M.

Publication type:

Article

FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3255, doi. 10.1093/hmg/ddw175

By:

Root, Heather;
Larsen, Andrew;
Komosa, Martin;
Al-Azri, Fakhriya;
Ren Li;
Bazett-Jones, David P.;
Meyn, M. Stephen

Publication type:

Article

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3232, doi. 10.1093/hmg/ddw173

By:

Bradshaw, Teisha Y.;
Romano, Lisa E. L.;
Duncan, Emma J.;
Nethisinghe, Suran;
Abeti, Rosella;
Michael, Gregory J.;
Giunti, Paola;
Vermeer, Sascha;
Chapple, J. Paul

Publication type:

Article

Improved imputation accuracy in Hispanic/Latino populations with larger and more diverse reference panels: applications in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3245, doi. 10.1093/hmg/ddw174

By:

Nelson, Sarah C.;
Stilp, Adrienne M.;
Papanicolaou, George J.;
Taylor, Kent D.;
Rotter, Jerome I.;
Thornton, Timothy A.;
Laurie, Cathy C.

Publication type:

Article

Long-range regulators of the lncRNA HOT AIR enhance its prognostic potential in breast cancer.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3269, doi. 10.1093/hmg/ddw177

By:

Milevskiy, Michael J. G.;
Al-Ejeh, Fares;
Saunus, Jodi M.;
Northwood, Korinne S.;
Bailey, Peter J.;
Betts, Joshua A.;
Reed, Amy E. McCart;
Nephew, Kenneth P.;
Stone, Andrew;
Gee, Julia M. W.;
Dowhan, Dennis H.;
Dray, Eloise;
Shewan, Annette M.;
French, Juliet D.;
Edwards, Stacey L.;
Clark, Susan J.;
Lakhani, Sunil R.;
Brown, Melissa A.

Publication type:

Article

Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3208, doi. 10.1093/hmg/ddw169

By:

Maillard, Julien;
Soyoung Park;
Croizier, Sophie;
Vanacker, Charlotte;
Cook, Joshua H.;
Prevot, Vincent;
Tauber, Maithe;
Bouret, Sebastien G.

Publication type:

Article

A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3164, doi. 10.1093/hmg/ddw166

By:

Krench, Megan;
Cho, Richard W.;
Littleton, J. Troy

Publication type:

Article

The unconventional secretion of ARMS2.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3143, doi. 10.1093/hmg/ddw162

By:

Kortvely, Elod;
Hauck, Stefanie M.;
Behler, Jennifer;
Ho, Nurulain;
Ueffing, Marius

Publication type:

Article

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3393, doi. 10.1093/hmg/ddw181

By:

Liping Hou;
Bergen, Sarah E.;
Akula, Nirmala;
Jie Song;
Hultman, Christina M.;
Landén, Mikael;
Adli, Mazda;
Alda, Martin;
Ardau, Raffaella;
Arias, Bárbara;
Aubry, Jean-Michel;
Backlund, Lena;
Badner, Judith A.;
Barrett, Thomas B.;
Bauer, Michael;
Baune, Bernhard T.;
Bellivier, Frank;
Benabarre, Antonio;
Bengesser, Susanne;
Berrettini, Wade H.

Publication type:

Article

Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3361, doi. 10.1093/hmg/ddw164

By:

Mi-Ryung Han;
Jirong Long;
Ji-Yeob Choi;
Siew-Kee Low;
Sun-Seog Kweon;
Ying Zheng;
Qiuyin Cai;
Jiajun Shi;
Xingyi Guo;
Keitaro Matsuo;
Motoki Iwasaki;
Chen-Yang Shen;
Mi Kyung Kim;
Wanqing Wen;
Bingshan Li;
Atsushi Takahashi;
Min-Ho Shin;
Yong-Bing Xiang;
Hidemi Ito;
Yoshio Kasuga

Publication type:

Article

Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3321, doi. 10.1093/hmg/ddw180

By:

Shinji Hadano;
Shun Mitsui;
Lei Pan;
Asako Otomo;
Mizuki Kubo;
Kai Sato;
Suzuka Ono;
Wakana Onodera;
Koichiro Abe;
Xue Ping Chen;
Masato Koike;
Yasuo Uchiyama;
Masashi Aoki;
Eiji Warabi;
Masayuki Yamamoto;
Tetsuro Ishii;
Toru Yanagawa;
Hui-Fang Shang;
Fumihito Yoshii

Publication type:

Article

Cyclooxygenase-2 deficiency impairs muscle-derived stem cell-mediated bone regeneration via cellular autonomous and non-autonomous mechanisms.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 15, p. 3216, doi. 10.1093/hmg/ddw172

By:

Xueqin Gao;
Arvydas Usas;
Aiping Lu;
Kozemchak, Adam;
YingTang;
Minakshi Poddar;
Xuying Sun;
Cummins, James H.;
Huard, Johnny

Publication type:

Article