Works matching IS 0964-6906 AND VI 26 AND IP 7 AND DT 2017

Results: 15

AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1353, doi. 10.1093/hmg/ddx056

By:

Verhelle, Adriaan;
Nair, Nisha;
Everaert, Inge;
Van Overbeke, Wouter;
Supply, Lynn;
Zwaenepoel, Olivier;
Peleman, Cindy;
Van Dorpe, Jo;
Lahoutte, Tony;
Devoogdt, Nick;
Derave, Wim;
Chuah, Marinee K.;
Driessche, Thierry Vanden;
Gettemans, Jan

Publication type:

Article

Fragile X related protein 1 (FXR1P) regulates proliferation of adult neural stem cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1340, doi. 10.1093/hmg/ddx034

By:

Patzlaff, Natalie E.;
Nemec, Kelsey M.;
Malone, Sydney G.;
Yue Li;
Xinyu Zhao

Publication type:

Article

Mitochondrial complex II regulates a distinct oxygen sensing mechanism in monocytes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1328, doi. 10.1093/hmg/ddx041

By:

Sharma, Shraddha;
Jianming Wang;
Gomez, Eduardo Cortes;
Taggart, Robert T.;
Baysal, Bora E.

Publication type:

Article

Sex specific activation of the ERα axis of the mitochondrial UPR (UPR<sup>mt</sup>) in the G93A-SOD1 mouse model of familial ALS.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1318, doi. 10.1093/hmg/ddx049

By:

Riar, Amanjot K.;
Burstein, Suzanne R.;
Palomo, Gloria M.;
Arreguin, Andrea;
Manfredi, Giovanni;
Germain, Doris

Publication type:

Article

GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1391, doi. 10.1093/hmg/ddx036

By:

Jones, Amy V.;
Tilley, Mera;
Gutteridge, Alex;
Hyde, Craig;
Nagle, Michael;
Ziemek, Daniel;
Gorman, Donal;
Fauman, Eric B.;
Xing Chen;
Miller, Melissa R.;
Chao Tian;
Youna Hu;
Hinds, David A.;
Cox, Peter;
Scollen, Serena

Publication type:

Article

Gclc deficiency in mouse CNS causes mitochondrial damage and neurodegeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1376, doi. 10.1093/hmg/ddx040

By:

Weiyi Feng;
Rosca, Mariana;
Yuxuan Fan;
Yufen Hu;
Pingfu Feng;
Hyoung-Gon Lee;
Monnier, Vincent M.;
Xingjun Fan

Publication type:

Article

Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1365, doi. 10.1093/hmg/ddx037

By:

Wanfeng Yu;
Ying Ni;
Saji, Motoyasu;
Ringel, Matthew D.;
Jaini, Ritika;
Charis Eng

Publication type:

Article

Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1305, doi. 10.1093/hmg/ddx046

By:

Moruno-Manchon, Jose F.;
Uzor, Ndidi-Ese;
Blasco-Conesa, Maria P.;
Mannuru, Sishira;
Putluri, Nagireddy;
Furr-Stimming, Erin E.;
Tsvetkov, Andrey S.

Publication type:

Article

Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1294, doi. 10.1093/hmg/ddx047

By:

Jianjun Hu;
Jie Lu;
Goyal, Akshay;
Wong, Timothy;
Lian, Gewei;
Jingping Zhang;
Hecht, Jonathan L.;
Yuanyi Feng;
Sheen, Volney L.

Publication type:

Article

A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1280, doi. 10.1093/hmg/ddx029

By:

Lingyun Tang;
Xiaolin Wu;
Hongxin Zhang;
Shunyuan Lu;
Min Wu;
Chunling Shen;
Xuejiao Chen;
Yicheng Wang;
Weigang Wang;
Yan Shen;
Mingmin Gu;
Xiaoyi Ding;
Xiaolong Jin;
Jian Fei;
Zhugang Wang

Publication type:

Article

LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1247, doi. 10.1093/hmg/ddx030

By:

Marcogliese, Paul C.;
Abuaish, Sameera;
Kabbach, Ghassan;
Abdel-Messih, Elizabeth;
Seang, Sarah;
Gang Li;
Slack, Ruth S.;
Haque, M. Emdadul;
Venderova, Katerina;
Park, David S.

Publication type:

Article

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1268, doi. 10.1093/hmg/ddx031

By:

Hiroshi Kurosaka;
Qi Wang;
Sandell, Lisa;
Takashi Yamashiro;
Trainor, Paul A.

Publication type:

Article

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1258, doi. 10.1093/hmg/ddx033

By:

Shin, Aram;
Baehyun Shin;
Jun Wan Shin;
Kyung-Hee Kim;
Atwal, Ranjit S.;
Hope, Jennifer M.;
Gillis, Tammy;
Leszyk, John D.;
Shaffer, Scott A.;
Lee, Ramee;
Seung Kwak;
MacDonald, Marcy E.;
Gusella, James F.;
Ihn Sik Seong;
Jong-Min Lee

Publication type:

Article

Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1230, doi. 10.1093/hmg/ddx028

By:

O'Callaghan, Jeffrey;
Crosbie, Darragh. E.;
Cassidy, Paul. S.;
Sherwood, Joseph M.;
Flügel-Koch, Cassandra;
Lütjen-Drecoll, Elke;
Humphries, Marian M.;
Reina-Torres, Ester;
Wallace, Deborah;
Kiang, Anna-Sophia;
Campbell, Matthew;
Stamer, W. Daniel;
Overby, Darryl R.;
O'Brien, Colm;
Tam, Lawrence C. S.;
Humphries, Peter

Publication type:

Article

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 7, p. 1219, doi. 10.1093/hmg/ddx014

By:

Belling, Kirstine;
Russo, Francesco;
Jensen, Anders B.;
Dalgaard, Marlene D.;
Westergaard, David;
Meyts, Ewa Rajpert-De;
Skakkebæk, Niels E.;
Juul, Anders;
Brunak, Søren

Publication type:

Article