Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 14

Results: 18

Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2803, doi. 10.1093/hmg/ddx177

By:

Julià, Antonio;
Absher, Devin;
López-Lasanta, María;
Palau, Nuria;
Pluma, Andrea;
Jones, Lindsay Waite;
Glossop, John R.;
Farrell, William E.;
Myers, Richard M.;
Marsal, Sara

Publication type:

Article

Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2791, doi. 10.1093/hmg/ddx174

By:

Mullin, Benjamin H.;
Jing Hua Zhao;
Brown, Suzanne J.;
Perry, John R. B.;
Luan, Jian'an;
Hou-Feng Zheng;
Langenberg, Claudia;
Dudbridge, Frank;
Scott, Robert;
Wareham, Nick J.;
Spector, Tim D.;
Richards, J. Brent;
Walsh, John P.;
Wilson, Scott G.

Publication type:

Article

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2781, doi. 10.1093/hmg/ddx173

By:

Petrillo, Sara;
Pelosi, Laura;
Piemonte, Fiorella;
Travaglini, Lorena;
Forcina, Laura;
Catteruccia, Michela;
Petrini, Stefania;
Verardo, Margherita;
D'Amico, Adele;
Musarò, Antonio;
Bertini, Enrico

Publication type:

Article

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 14, p. 2812, doi. 10.1093/hmg/ddx165
Publication type:: Article

Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2603, doi. 10.1093/hmg/ddx120

By:

Soria, Federico N.;
Engeln, Michel;
Martinez-Vicente, Marta;
Glangetas, Christelle;
López-González, María José;
Dovero, Sandra;
Dehay, Benjamin;
Normand, Elisabeth;
Vila, Miquel;
Favereaux, Alexandre;
Georges, François;
Lo Bianco, Christophe;
Bezard, Erwan;
Fernagut, Pierre-Olivier

Publication type:

Article

GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2747, doi. 10.1093/hmg/ddx161

By:

Ramĺrez, Marian Blanca;
Lara Ordóñez, Antonio Jesús;
Fdez, Elena;
Madero-Pérez, Jesús;
Gonnelli, Adriano;
Drouyer, Matthieu;
Chartier-Harlin, Marie-Christine;
Taymans, Jean-Marc;
Bubacco, Luigi;
Greggio, Elisa;
Hilfiker, Sabine

Publication type:

Article

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2591, doi. 10.1093/hmg/ddx106

By:

Zerdoumi, Yasmine;
Lanos, Raphaël;
Raad, Sabine;
Flaman, Jean-Michel;
Bougeard, Gaëlle;
Frebourg, Thierry;
Tournier, Isabelle

Publication type:

Article

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2768, doi. 10.1093/hmg/ddx166

By:

Xingxing Wu;
Shu-Huei Wang;
Junjie Sun;
Krainer, Adrian R.;
Yimin Hua;
Prior, Thomas W.

Publication type:

Article

Hepatic Tm6sf2 overexpression affects cellular ApoB-trafficking, plasma lipid levels, hepatic steatosis and atherosclerosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2719, doi. 10.1093/hmg/ddx159

By:

Ehrhardt, Nicole;
Doche, Michael E.;
Chen, Shuang;
Mao, Hui Z.;
Walsh, Meghan T.;
Bedoya, Candy;
Guindi, Maha;
Weidong Xiong;
Irudayam, Joseph Ignatius;
Iqbal, Jahangir;
Fuchs, Sebastien;
French, Samuel W.;
Hussain, M. Mahmood;
Arditi, Moshe;
Arumugaswami, Vaithilingaraja;
Péterfy, Mikós

Publication type:

Article

Post-transcriptional regulation of FUS and EWS protein expression by miR-141 during neural differentiation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2732, doi. 10.1093/hmg/ddx160

By:

Svetoni, Francesca;
De Paola, Elisa;
La Rosa, Piergiorgio;
Mercatelli, Neri;
Caporossi, Daniela;
Sette, Claudio;
Paronetto, Maria Paola

Publication type:

Article

Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2701, doi. 10.1093/hmg/ddx158

By:

Huiqing Li;
Wuhong Pei;
Vergarajauregui, Sivia;
Zerfas, Patricia M.;
Raben, Nina;
Burgess, Shawn M.;
Puertollano, Rosa

Publication type:

Article

APOE ∊4/∊4 diminishes neurotrophic function of human iPSC-derived astrocytes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2690, doi. 10.1093/hmg/ddx155

By:

Jing Zhao;
Davis, Mary D.;
Martens, Yuka A.;
Mitsuru Shinohara;
Graff-Radford, Neill R.;
Younkin, Steven G.;
Wszolek, Zbigniew K.;
Takahisa Kanekiyo;
Guojun Bu

Publication type:

Article

Quantitative assessment of timing, efficiency, specificity and genetic mosaicism of CRISPR/Cas9-mediated gene editing of hemoglobin beta gene in rhesus monkey embryos.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2678, doi. 10.1093/hmg/ddx154

By:

Midic, Uros;
Pei-Hsuan Hung;
Vincent, Kailey A.;
Goheen, Benjamin;
Schupp, Patrick G.;
Chen, Diane D.;
Bauer, Daniel E.;
VandeVoort, Catherine A.;
Latham, Keith E.

Publication type:

Article

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2667, doi. 10.1093/hmg/ddx149

By:

Agrawal, Smriti A.;
Burgoyne, Thomas;
Eblimit, Aiden;
Bellingham, James;
Parfitt, David A.;
Lane, Amelia;
Nichols, Ralph;
Asomugha, Chinwe;
Hayes, Matthew J.;
Munro, Peter M.;
Mingchu Xu;
Keqing Wang;
Futter, Clare E.;
Yumei Li;
Rui Chen;
Cheetham, Michael E.

Publication type:

Article

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2649, doi. 10.1093/hmg/ddx148

By:

Robin, Gaëlle;
López, José R.;
Espinal, Glenda M.;
Hulsizer, Susan;
Hagerman, Paul J.;
Pessah, Isaac N.

Publication type:

Article

Disrupted-in-Schizophrenia-1 (DISC1) protein disturbs neural function in multiple disease-risk pathways.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2634, doi. 10.1093/hmg/ddx147

By:

Lisha Shao;
Binyan Lu;
Zhexing Wen;
Shaolei Teng;
Lingling Wang;
Yi Zhao;
Liyuan Wang;
Koko Ishizuka;
Xiufeng Xu;
Akira Sawa;
Hongjun Song;
Guoli Ming;
Yi Zhong

Publication type:

Article

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2627, doi. 10.1093/hmg/ddx141

By:

Jasoliya, Mittal J.;
McMackin, Marissa Z.;
Henderson, Chelsea K.;
Perlman, Susan L.;
Cortopassi, Gino A.

Publication type:

Article

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2616, doi. 10.1093/hmg/ddx136

By:

Hogan, Alison L.;
Don, Emily K.;
Rayner, Stephanie L.;
Lee, Albert;
Laird, Angela S.;
Watchon, Maxinne;
Winnick, Claire;
Tarr, Ingrid S.;
Morsch, Marco;
Fifita, Jennifer A.;
Gwee, Serene S. L.;
Formella, Isabel;
Hortle, Elinor;
Yuan, Kristy C.;
Molloy, Mark P.;
Williams, Kelly L.;
Nicholson, Garth A.;
Chung, Roger S.;
Blair, Ian P.;
Cole, Nicholas J.

Publication type:

Article