Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 14

Results: 19

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3096, doi. 10.1093/hmg/ddw150

By:

Freudenberg-Hua, Yun;
Wentian Li;
Abhyankar, Avinash;
Vacic, Vladimir;
Cortes, Vanessa;
Ben-Avraham, Danny;
Koppel, Jeremy;
Greenwald, Blaine;
Germer, Soren;
Darnell, Robert B.;
Barzilai, Nir;
Freudenberg, Jan;
Atzmon, Gil;
Davies, Peter

Publication type:

Article

BIN1 regulates BACE1 intracellular trafficking and amyloid-β production.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2948, doi. 10.1093/hmg/ddw146

By:

Toji Miyagawa;
Ihori Ebinuma;
Yuichi Morohashi;
Yukiko Hori;
Mee Young Chang;
Haruhiko Hattori;
Tomoaki Maehara;
Satoshi Yokoshima;
Tohru Fukuyama;
Shoji Tsuji;
Takeshi Iwatsubo;
Prendergast, George C.;
Taisuke Tomita

Publication type:

Article

Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2997, doi. 10.1093/hmg/ddw153

By:

Biosse Duplan, Martin;
Komla-Ebri, Davide;
Heuzé, Yann;
Estibals, Valentin;
Gaudas, Emilie;
Kaci, Nabil;
Benoist-Lasselin, Catherine;
Zerah, Michel;
Kramer, Ina;
Kneissel, Michaela;
Grauss Porta, Diana;
Di Rocco, Federico;
Legeai-Mallet, Laurence

Publication type:

Article

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2985, doi. 10.1093/hmg/ddw149

By:

Giunta, Michele;
Edvardson, Shimon;
Yaobo Xu;
Schuelke, Markus;
Gomez-Duran, Aurora;
Boczonadi, Veronika;
Elpeleg, Orly;
Müller, Juliane S.;
Horvath, Rita

Publication type:

Article

Systems-level analysis of human aging genes shed new light on mechanisms of aging.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2934, doi. 10.1093/hmg/ddw145

By:

Quanwei Zhang;
Nogales-Cadenas, Ruben;
Jhih-Rong Lin;
Wen Zhang;
Ying Cai;
Jan Vijg;
Zhengdong D. Zhang

Publication type:

Article

N-acetylcysteine modulates glutamatergic dysfunction and depressive behavior in Huntington's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2923, doi. 10.1093/hmg/ddw144

By:

Wright, Dean J.;
Gray, Laura J.;
Finkelstein, David I.;
Crouch, Peter J.;
Pow, David;
Pang, Terence Y.;
Shanshan Li;
Smith, Zoe M.;
Francis, Paul S.;
Renoir, Thibault;
Hannan, Anthony J.

Publication type:

Article

AAV-mediated gene therapy in Dystrophin-Dp71 deficient mouse leads to blood-retinal barrier restoration and oedema reabsorption.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3070, doi. 10.1093/hmg/ddw159

By:

Vacca, Ophélie;
Charles-Messance, Hugo;
El Mathari, Brahim;
Sene, Abdoulaye;
Barbe, Peggy;
Fouquet, Stéphane;
Aragon, Jorge;
Darche, Marie;
Giocanti-Aurégan, Audrey;
Paques, Michel;
Sahel, José-Alain;
Tadayoni, Ramin;
Montañez, Cecilia;
Dalkara, Deniz;
Rendon, Alvaro

Publication type:

Article

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3042, doi. 10.1093/hmg/ddw157

By:

Palmer, Elizabeth E.;
Jarrett, Kelsey E.;
Sachdev, Rani K.;
Al Zahrani, Fatema;
Hashem, Mais Omar;
Ibrahim, Niema;
Sampaio, Hugo;
Kandula, Tejaswi;
Macintosh, Rebecca;
Gupta, Rajat;
Conlon, Donna M.;
Billheimer, Jeffrey T.;
Rader, Daniel J.;
Kouichi Funato;
Walkey, Christopher J.;
Chang Seok Lee;
Loo, Christine;
Brammah, Susan;
Elakis, George;
Ying Zhu

Publication type:

Article

A familial ATP13A2 mutation enhances alpha-synuclein aggregation and promotes cell death.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2959, doi. 10.1093/hmg/ddw147

By:

Lopes da Fonseca, Tomas;
Pinho, Raquel;
Outeiro, Tiago F.

Publication type:

Article

RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2893, doi. 10.1093/hmg/ddw142

By:

Miller, James R. C.;
Lo, Kitty K.;
Andre, Ralph;
Hensman Moss, Davina J.;
Träger, Ulrike;
Stone, Timothy C.;
Jones, Lesley;
Holmans, Peter;
Plagnol, Vincent;
Tabrizi, Sarah J.

Publication type:

Article

Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3055, doi. 10.1093/hmg/ddw158

By:

Lopez-Anido, Camila;
Poitelon, Yannick;
Gopinath, Chetna;
Moran, John J.;
Ki Hwan Ma;
Law, William D.;
Antonellis, Anthony;
Feltri, M. Laura;
Svaren, John

Publication type:

Article

Genome-wide interrogation reveals hundreds of long intergenic noncoding RNAs that associate with cardiometabolic traits.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3125, doi. 10.1093/hmg/ddw154

By:

Ballantyne, Rachel L.;
Xuan Zhang;
Nuñez, Sara;
Xue, Chenyi;
Wei Zhao;
Reed, Eric;
Salaheen, Danish;
Foulkes, Andrea S.;
Mingyao Li;
Reilly, Muredach P.

Publication type:

Article

MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3029, doi. 10.1093/hmg/ddw156

By:

Kyle, Stephanie M.;
Saha, Pradip K.;
Brown, Hannah M.;
Chan, Lawrence C.;
Justice, Monica J.

Publication type:

Article

SUGP1 is a novel regulator of cholesterol metabolism.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3106, doi. 10.1093/hmg/ddw151

By:

Kim, Mee J.;
Chi-Yi Yu;
Theusch, Elizabeth;
Naidoo, Devesh;
Stevens, Kristen;
Yu-Lin Kuang;
Schuetz, Erin;
Chaudhry, Amarjit S.;
Medina, Marisa W.

Publication type:

Article

Disruption of the astrocytic TNFR1-GDNF axis accelerates motor neuron degeneration and disease progression in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3080, doi. 10.1093/hmg/ddw161

By:

Brambilla, Liliana;
Guidotti, Giulia;
Martorana, Francesca;
Iyer, Anand M.;
Aronica, Eleonora;
Valori, Chiara F.;
Rossi, Daniela

Publication type:

Article

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2972, doi. 10.1093/hmg/ddw148

By:

Gautier, Clément A.;
Erpapazoglou, Zoi;
Mouton-Liger, François;
Muriel, Marie Paule;
Cormier, Florence;
Bigou, Stéphanie;
Duffaure, Sophie;
Girard, Mathilde;
Foret, Benjamin;
Iannielli, Angelo;
Broccoli, Vania;
Dalle, Carine;
Bohl, Delphine;
Michel, Patrick P.;
Corvol, Jean-Christophe;
Brice, Alexis;
Corti, Olga

Publication type:

Article

Genetic risk variants for autoimmune diseases that influence gene expression in thymus.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3117, doi. 10.1093/hmg/ddw152

By:

Gabrielsen, Ingvild S. M.;
Svanstrøm Amundsen, Silja;
Helgeland, Hanna;
Tennebø Flåm, Siri;
Hatinoor, Nimo;
Holm, Kristian;
Viken, Marte K.;
Lie, Benedicte A.

Publication type:

Article

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 3011, doi. 10.1093/hmg/ddw155

By:

Burnicka-Turek, Ozanna;
Steimle, Jeffrey D.;
Wenhui Huang;
Felker, Lindsay;
Kamp, Anna;
Junghun Kweon;
Peterson, Michael;
Reeves, Roger H.;
Maslen, Cheryl L.;
Gruber, Peter J.;
Xinan H. Yang;
Shendure, Jay;
Moskowitz, Ivan P.

Publication type:

Article

Targeted inactivation of murine Ddx3x: essential roles of Ddx3x in placentation and embryogenesis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 14, p. 2902, doi. 10.1093/hmg/ddw143

By:

Chia-Yu Chen;
Chieh-Hsiang Chan;
Chun-Ming Chen;
Yin-Shuan Tsai;
Tsung-Yuan Tsai;
Yan-Hwa Wu Lee;
Li-Ru You

Publication type:

Article