Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 16

Results: 23

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4710, doi. 10.1093/hmg/ddv144

By:

Tianhua Niu;
Ning Liu;
Ming Zhao;
Guie Xie;
Lei Zhang;
Jian Li;
Yu-Fang Pei;
Hui Shen;
Xiaoying Fu;
Hao He;
Shan Lu;
Xiang-Ding Chen;
Li-Jun Tan;
Tie-Lin Yang;
Yan Guo;
Leo, Paul J.;
Duncan, Emma L.;
Jie Shen;
Yan-Fang Guo;
Nicholson, Geoffrey C.

Publication type:

Article

Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4686, doi. 10.1093/hmg/ddv200

By:

Wei Zhao;
Baichun Jiang;
Huili Hu;
Shuqian Zhang;
Shuaishuai Lv;
Jupeng Yuan;
Yanyan Qian;
Yongxin Zou;
Xi Li;
Hong Jiang;
Fang Liu;
Changshun Shao;
Yaoqin Gong

Publication type:

Article

Mobilization of epithelial mesenchymal transition genes distinguishes active from inactive lesional tissue in patients with ulcerative colitis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4615, doi. 10.1093/hmg/ddv192

By:

Xinmei Zhao;
Jinshui Fan;
Fachao Zhi;
Aimin Li;
Chen Li;
Berger, Alan E.;
Boorgula, Meher Preethi;
Barkataki, Sangjucta;
Courneya, Jean-Paul;
Yuqing Chen;
Barnes, Kathleen C.;
Cheadle, Chris

Publication type:

Article

Gene x dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4728, doi. 10.1093/hmg/ddv186

By:

Nettleton, Jennifer A.;
Follis, Jack L.;
Ngwa, Julius S.;
Smith, Caren E.;
Ahmad, Shafqat;
Toshiko Tanaka;
Wojczynski, Mary K.;
Voortman, Trudy;
Lemaitre, Rozenn N.;
Kristiansson, Kati;
Nuotio, Marja-Liisa;
Houston, Denise K.;
Perälä, Mia-Maria;
Qibin Qi;
Sonestedt, Emily;
Manichaikul, Ani;
Kanoni, Stavroula;
Ganna, Andrea;
Mikkilä, Vera;
North, Kari E.

Publication type:

Article

Genome-wide association study of toxic metals and trace elements reveals novel associations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4739, doi. 10.1093/hmg/ddv190

By:

Ng, Esther;
Lind, P. Monica;
Lindgren, Cecilia;
Ingelsson, Erik;
Mahajan, Anubha;
Morris, Andrew;
Lind, Lars

Publication type:

Article

Reduced protein turnover mediates functional deficits in transgenic mice expressing the 25 kDa C-terminal fragment of TDP-43.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4625, doi. 10.1093/hmg/ddv193

By:

Caccamo, Antonella;
Shaw, Darren M.;
Guarino, Francesca;
Messina, Angela;
Walker, Aaron W.;
Oddo, Salvatore

Publication type:

Article

Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4698, doi. 10.1093/hmg/ddv201

By:

Mutsumi Yokota;
Hideyuki Hatakeyama;
Saki Okabe;
Yasuha Ono;
Yu-ichi Goto

Publication type:

Article

Critical role of the SPAK protein kinase CCT domain in controlling blood pressure.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4545, doi. 10.1093/hmg/ddv185

By:

Jinwei Zhang;
Siew, Keith;
Macartney, Thomas;
O'Shaughnessy, Kevin M.;
Alessi, Dario R.

Publication type:

Article

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4530, doi. 10.1093/hmg/ddv184

By:

Winter, Lilli;
Kuznetsov, Andrey V.;
Grimm, Michael;
Zeöld, Anikó;
Fischer, Irmgard;
Wiche, Gerhard

Publication type:

Article

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4584, doi. 10.1093/hmg/ddv189

By:

Wert, Katherine J.;
Bassuk, Alexander G.;
Wen-Hsuan Wu;
Gakhar, Lokesh;
Coglan, Diana;
Mahajan, MaryAnn;
Shu Wu;
Jing Yang;
Chyuan-Sheng Lin;
Tsang, Stephen H.;
Mahajan, Vinit B.

Publication type:

Article

X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4599, doi. 10.1093/hmg/ddv191

By:

Didi Wan;
Zi Chao Zhang;
Xiaoyan Zhang;
Qian Li;
Junhai Han

Publication type:

Article

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4636, doi. 10.1093/hmg/ddv195

By:

Rokach, Ori;
Sekulic-Jablanovic, Marijana;
Voermans, Nicol;
Wilmshurst, Jo;
Pillay, Komala;
Heytens, Luc;
Haiyan Zhou;
Muntoni, Francesco;
Gautel, Mathias;
Nevo, Yoram;
Mitrani-Rosenbaum, Stella;
Attali, Ruben;
Finotti, Alessia;
Gambari, Roberto;
Mosca, Barbara;
Jungbluth, Heinz;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4504, doi. 10.1093/hmg/ddv175

By:

Olivera-Bravo, Silvia;
Ribeiro, César A. J.;
Isasi, Eugenia;
Trías, Emiliano;
Leipnitz, Guilhian;
Díaz-Amarilla, Pablo;
Woontner, Michael;
Beck, Cheryl;
Goodman, Stephen I.;
Souza, Diogo;
Wajner, Moacir;
Barbeito, Luis

Publication type:

Article

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4764, doi. 10.1093/hmg/ddv196

By:

Lan Yu;
Sawle, Ashley D.;
Wynn, Julia;
Aspelund, Gudrun;
Stolar, Charles J.;
Arkovitz, Marc S.;
Potoka, Douglas;
Azarow, Kenneth S.;
Mychaliska, George B.;
Yufeng Shen;
Chung, Wendy K.

Publication type:

Article

Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4491, doi. 10.1093/hmg/ddv173

By:

Atilano, Shari R.;
Malik, Deepika;
Chwa, Marilyn;
Cáceres-Del-Carpio, Javier;
Nesburn, Anthony B.;
Boyer, David S.;
Kuppermann, Baruch D.;
Jazwinski, S. Michal;
Miceli, Michael V.;
Wallace, Douglas C.;
Udar, Nitin;
Kenney, M. Cristina

Publication type:

Article

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4516, doi. 10.1093/hmg/ddv183

By:

Garcia-Diaz, Beatriz;
Barca, Emanuele;
Balreira, Andrea;
Lopez, Luis C.;
Tadesse, Saba;
Krishna, Sindhu;
Naini, Ali;
Mariotti, Caterina;
Castellotti, Barbara;
Quinzii, Catarina M.

Publication type:

Article

Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4648, doi. 10.1093/hmg/ddv197

By:

Fei Liu;
Jiaxiang Chen;
Shanshan Yu;
Raghupathy, Rakesh Kotapati;
Xiliang Liu;
Yayun Qin;
Chang Li;
Mi Huang;
Shengjie Liao;
JiuxiangWang;
Jian Zou;
Xinhua Shu;
Zhaohui Tang;
Mugen Liu

Publication type:

Article

Model mice for 15q11-13 duplication syndrome exhibit late-onset obesity and altered lipid metabolism.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4559, doi. 10.1093/hmg/ddv187

By:

Rui Kishimoto;
Kota Tamada;
Xiaoxi Liu;
Hiroko Okubo;
Satoko Ise;
Hisashi Ohta;
Ruf, Sandra;
Jin Nakatani;
Nobuoki Kohno;
Spitz, François;
Toru Takumi

Publication type:

Article

Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4746, doi. 10.1093/hmg/ddv194

By:

Kirsten, Holger;
Al-Hasani, Hoor;
Holdt, Lesca;
Gross, Arnd;
Beutner, Frank;
Krohn, Knut;
Horn, Katrin;
Ahnert, Peter;
Burkhardt, Ralph;
Reiche, Kristin;
Hackermüller, Jörg;
Löffler, Markus;
Teupser, Daniel;
Thiery, Joachim;
Scholz, Markus

Publication type:

Article

CDK5 phosphorylates DRP1 and drives mitochondrial defects in NMDA-induced neuronal death.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4573, doi. 10.1093/hmg/ddv188

By:

Jahani-Asl, Arezu;
En Huang;
Irrcher, Isabella;
Rashidian, Juliet;
Naotada Ishihara;
Lagace, Diane C.;
Slack, Ruth S.;
Park, David S.

Publication type:

Article

Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4674, doi. 10.1093/hmg/ddv199

By:

Duan, Jubao;
Sanders, Alan R.;
Moy, Winton;
Drigalenko, Eugene I.;
Brown, Eric C.;
Freda, Jessica;
Leites, Catherine;
Göring, Harald H. H.;
Gejman, Pablo V.

Publication type:

Article

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171

By:

Damiano, John A.;
Afawi, Zaid;
Bahlo, Melanie;
Mauermann, Monika;
Misk, Adel;
Arsov, Todor;
Oliver, Karen L.;
Dahl, Hans-Henrik M.;
Shearer, A. Eliot;
Smith, Richard J. H.;
Hall, Nathan E.;
Mahmood, Khalid;
Leventer, Richard J.;
Scheffer, Ingrid E.;
Muona, Mikko;
Lehesjoki, Anna-Elina;
Korczyn, Amos D.;
Herrmann, Harald;
Berkovic, Samuel F.;
Hildebrand, Michael S.

Publication type:

Article

Tissue-specific epigenetics in gene neighborhoods: myogenic transcription factor genes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4660, doi. 10.1093/hmg/ddv198

By:

Chandra, Sruti;
Terragni, Jolyon;
Guoqiang Zhang;
Pradhan, Sriharsa;
Haushka, Stephen;
Johnston, Douglas;
Baribault, Carl;
Lacey, Michelle;
Ehrlich, Melanie

Publication type:

Article