Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 13

Results: 22

Genomic removal of a therapeutic mini-dystrophin gene from adult mice elicits a Duchenne muscular dystrophy-like phenotype.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2633, doi. 10.1093/hmg/ddw123

By:

Wasala, Nalinda B.;
Yi Lai;
Jin-Hong Shin;
Junling Zhao;
Yongping Yue;
Dongsheng Duan

Publication type:

Article

Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2752, doi. 10.1093/hmg/ddw132

By:

Walker, Marquis T.;
Montell, Craig

Publication type:

Article

Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2621, doi. 10.1093/hmg/ddw122

By:

Tang Yi Teo, Roy;
Xin Hong;
Libo Yu-Taeger;
Yihui Huang;
Liang Juin Tan;
Yuanyun Xie;
Xuan Vinh To;
Ling Guo;
Rajendran, Reshmi;
Novati, Arianna;
Calaminus, Carsten;
Riess, Olaf;
Hayden, Michael R.;
Huu P. Nguyen;
Kai-Hsiang Chuang;
Pouladi, Mahmoud A.

Publication type:

Article

CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH).

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2661, doi. 10.1093/hmg/ddw125

By:

Tingting Sui;
Lin Yuan;
Huan Liu;
Mao Chen;
Jichao Deng;
Yong Wang;
Zhanjun Li;
Liangxue Lai

Publication type:

Article

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2728, doi. 10.1093/hmg/ddw130

By:

Smeets, Cleo J. L. M.;
Zmorzyńska, Justyna;
Melo, Manuel N.;
Stargardt, Anita;
Dooley, Colette;
Bakalkin, Georgy;
McLaughlin, Jay;
Sinke, Richard J.;
Marrink, Siewert-Jan;
Reits, Eric;
Verbeek, Dineke S.

Publication type:

Article

Identification of a novel susceptibility locus at 16q23.1 associated with childhood acute lymphoblastic leukemia in Han Chinese.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2873, doi. 10.1093/hmg/ddw112

By:

Yongyong Shi;
Mulong Du;
Yongjun Fang;
Na Tong;
Xiaowen Zhai;
Xiaojing Sheng;
Zhiqiang Li;
Yao Xue;
Jie Li;
Haiyan Chu;
Jianhua Chen;
Zhijian Song;
Jiawei Shen;
Jue Ji;
Xingwang Li;
Zhibin Hu;
Hongbing Shen;
Jianfeng Xu;
Meilin Wang;
Zhengdong Zhang

Publication type:

Article

Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2645, doi. 10.1093/hmg/ddw124

By:

Rockenstein, Edward;
Clarke, Jennifer;
Viel, Catherine;
Panarello, Nicholas;
Treleaven, Christopher M.;
Changyoun Kim;
Spencer, Brian;
Adame, Anthony;
Hyejung Park;
Dodge, James C.;
Seng H. Cheng;
Shihabuddin, Lamya S.;
Masliah, E.;
Sardi, S. Pablo

Publication type:

Article

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2853, doi. 10.1093/hmg/ddw141

By:

Hunter, Gillian;
Powis, Rachael A.;
Jones, Ross A.;
Groen, Ewout J. N.;
Shorrock, Hannah K.;
Lane, Fiona M.;
Yinan Zheng;
Sherman, Diane L.;
Brophy, Peter J.;
Gillingwater, Thomas H.

Publication type:

Article

The contribution of mutant GBA to the development of Parkinson disease in Drosophila.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2712, doi. 10.1093/hmg/ddw129

By:

Maor, Gali;
Cabasso, Or;
Krivoruk, Olga;
Rodriguez, Joe;
Steller, Hermann;
Segal, Daniel;
Horowitz, Mia

Publication type:

Article

Oxygen consumption deficit in Huntington disease mouse brain under metabolic stress.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2813, doi. 10.1093/hmg/ddw138

By:

Song Lou;
Lepak, Victoria C.;
Eberly, Lynn E.;
Roth, Brian;
Weina Cui;
Xiao-Hong Zhu;
Öz, Gülin;
Dubinsky, Janet M.

Publication type:

Article

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2862, doi. 10.1093/hmg/ddw104

By:

Leslie, Elizabeth J.;
Carlson, Jenna C.;
Shaffer, John R.;
Feingold, Eleanor;
Wehby, George;
Laurie, Cecelia A.;
Jain, Deepti;
Laurie, Cathy C.;
Doheny, Kimberly F.;
McHenry, Toby;
Resick, Judith;
Sanchez, Carla;
Jacobs, Jennifer;
Emanuele, Beth;
Vieira, Alexandre R.;
Neiswanger, Katherine;
Lidral, Andrew C.;
Valencia-Ramirez, Luz Consuelo;
Lopez-Palacio, Ana Maria;
Valencia, Dora Rivera

Publication type:

Article

Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2776, doi. 10.1093/hmg/ddw135

By:

Leber, Yvonne;
Ruparelia, Avnika A.;
Kirfel, Gregor;
van der Ven, Peter F. M.;
Hoffmann, Bernd;
Merkel, Rudolf;
Bryson-Richardson, Robert J.;
Fürst, Dieter O.

Publication type:

Article

BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2672, doi. 10.1093/hmg/ddw126

By:

Moshfegh, Yasmin;
Velez, Gabriel;
Yao Li;
Bassuk, Alexander G.;
Mahajan, Vinit B.;
Tsang, Stephen H.

Publication type:

Article

Oxidative metabolism and Ca<sup>2+</sup> handling in isolated brain mitochondria and striatal neurons from R6/2 mice, a model of Huntington's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2762, doi. 10.1093/hmg/ddw133

By:

Hamilton, James;
Pellman, Jessica J.;
Brustovetsky, Tatiana;
Harris, Robert A.;
Brustovetsky, Nickolay

Publication type:

Article

ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2827, doi. 10.1093/hmg/ddw139

By:

Fowler, Philippa C.;
O'Sullivan, Niamh C.

Publication type:

Article

Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2698, doi. 10.1093/hmg/ddw128

By:

Fellmeth, Jessica E.;
Ghanaim, Elena M.;
Schindler, Karen

Publication type:

Article

EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progression.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2789, doi. 10.1093/hmg/ddw136

By:

Drelon, Coralie;
Berthon, Annabel;
Mathieu, Mickael;
Ragazzon, Bruno;
Kuick, Rork;
Tabbal, Houda;
Septier, Amandine;
Rodriguez, Stéphanie;
Batisse-Lignier, Marie;
Sahut-Barnola, Isabelle;
Dumontet, Typhanie;
Pointud, Jean-Christophe;
Lefrançois-Martinez, Anne-Marie;
Baron, Silvère;
Giordano, Thomas J.;
Bertherat, Jérôme;
Martinez, Antoine;
Val, Pierre

Publication type:

Article

Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2738, doi. 10.1093/hmg/ddw131

By:

Fengping Dong;
Joanna Jiang;
McSweeney, Colleen;
Donghua Zou;
Long Liu;
Yingwei Mao

Publication type:

Article

Genome-wide association study of serum coenzyme Q<sub>10</sub> levels identifies susceptibility loci linked to neuronal diseases.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2881, doi. 10.1093/hmg/ddw134

By:

Degenhardt, Frauke;
Niklowitz, Petra;
Szymczak, Silke;
Jacobs, Gunnar;
Lieb, Wolfgang;
Menke, Thomas;
Laudes, Matthias;
Esko, Tõnu;
Weidinger, Stephan;
Franke, Andre;
Döring, Frank;
Onur, Simone

Publication type:

Article

Dominant and recessive mutations in rhodopsin activate different cell death pathways.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2801, doi. 10.1093/hmg/ddw137

By:

Comitato, Antonella;
Di Salvo, Maria Teresa;
Turchiano, Giandomenico;
Montanari, Monica;
Sakami, Sanae;
Palczewski, Krzysztof;
Marigo, Valeria

Publication type:

Article

Characterization of SKAP/kinastrin isoforms: the N-terminus defines tissue specificity and Pontin binding.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2838, doi. 10.1093/hmg/ddw140

By:

Cindric Vranesic, Anita;
Reiche, Juliane;
Hoischen, Christian;
Wohlmann, Andreas;
Bratsch, Jens;
Friedrich, Karlheinz;
Günes, Berkay;
Cappallo-Obermann, Heike;
Kirchhoff, Christiane;
Diekmann, Stephan;
Günes, Cagatay;
Huber, Otmar

Publication type:

Article

Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 13, p. 2681, doi. 10.1093/hmg/ddw127

By:

Busch, Johanna I.;
Unger, Travis L.;
Jain, Nimansha;
Skrinak, R. Tyler;
Charan, Rakshita A.;
Chen-Plotkin, Alice S.

Publication type:

Article