Works in Human Molecular Genetics, 2018, Vol 27, Issue 8

Results: 14

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1434, doi. 10.1093/hmg/ddy054

By:

O'Connor, Emily;
Phan, Vietxuan;
Cordts, Isabell;
Cairns, George;
Hettwer, Stefan;
Cox, Daniel;
Lochmüller1, Hanns;
Roos, Andreas

Publication type:

Article

Predominant patterns of splicing evolution on human, chimpanzee and macaque evolutionary lineages.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1474, doi. 10.1093/hmg/ddy058

By:

Jieyi Xiong;
Xi Jiang;
Angeliki Ditsiou;
Yang Gao;
Jing Sun;
Lowenstein, Elijah D.;
Shuyun Huang;
Philipp Khaitovich

Publication type:

Article

Intrathecal gene therapy in mouse models expressing CMT1X mutations.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1460, doi. 10.1093/hmg/ddy056

By:

Kagiava, A.;
Karaiskos, C.;
Richter, J.;
Tryfonos, C.;
Lapathitis, G.;
Sargiannidou, I.;
Christodoulou, C.;
Kleopa, K. A.

Publication type:

Article

The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1447, doi. 10.1093/hmg/ddy055

By:

Briand, Nolwenn;
Guénantin, Anne-Claire;
Jeziorowska, Dorota;
Shah, Akshay;
Mantecon, Matthieu;
Capel, Emilie;
Garcia, Marie;
Oldenburg, Anja;
Paulsen, Jonas;
Hulot, Jean-Sebastien;
Vigouroux, Corinne;
Collas, Philippe

Publication type:

Article

Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS/FTD models.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1366, doi. 10.1093/hmg/ddy047

By:

Anderson, Eric N.;
Gochenaur, Lauren;
Singh, Aditi;
Grant, Rogan;
Patel, Krishani;
Watkins, Simon;
Wu, Jane Y.;
Pandey, Udai Bhan

Publication type:

Article

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1421, doi. 10.1093/hmg/ddy052

By:

Takeshi Mizuguchi;
Mitsuko Nakashima;
Mitsuhiro Kato;
Nobuhiko Okamoto;
Hirokazu Kurahashi;
Nina Ekhilevitch;
Masaaki Shiina;
Gen Nishimura;
Takashi Shibata;
Muneaki Matsuo;
Tae Ikeda;
Kazuhiro Ogata;
Naomi Tsuchida;
Satomi Mitsuhashi;
Satoko Miyatake;
Atsushi Takata;
Noriko Miyake;
Kenichiro Hata;
Tadashi Kaname;
Yoichi Matsubara

Publication type:

Article

14q32 and let-7 microRNAs regulate transcriptional networks in fetal and adult human erythroblasts.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1411, doi. 10.1093/hmg/ddy051

By:

Lessard, Samuel;
Beaudoin, Mélissa;
Orkin, Stuart H.;
Bauer, Daniel E.;
Lettre, Guillaume

Publication type:

Article

Hippocampal mutant APP and amyloid beta-induced cognitive decline, dendritic spine loss, defective autophagy, mitophagy and mitochondrial abnormalities in a mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1332, doi. 10.1093/hmg/ddy042

By:

Manczak, Maria;
Kandimalla, Ramesh;
Xiangling Yin;
Hemachandra Reddy, P.

Publication type:

Article

The pro-apoptotic JNK scaffold POSH/SH3RF1 mediates CHMP2B<sup>Intron5</sup>-associated toxicity in animal models of frontotemporal dementia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1382, doi. 10.1093/hmg/ddy048

By:

West, Ryan J. H.;
Ugbode, Chris;
Gao, Fen-Biao;
Sweeney, Sean T.

Publication type:

Article

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1486, doi. 10.1093/hmg/ddy053

By:

Yukihiro Shiga;
Masato Akiyama;
Nishiguchi, Koji M.;
Kota Sato;
Nobuhiro Shimozawa;
Atsushi Takahashi;
Yukihide Momozawa;
Makoto Hirata;
Koichi Matsuda;
Taiki Yamaji;
Motoki Iwasaki;
Shoichiro Tsugane;
Isao Oze;
Haruo Mikami;
Mariko Naito;
Kenji Wakai;
Munemitsu Yoshikawa;
Masahiro Miyake;
Kenji Yamashiro;
Kenji Kashiwagi

Publication type:

Article

Self-assembly of FUS through its low-complexity domain contributes to neurodegeneration.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1353, doi. 10.1093/hmg/ddy046

By:

Taisei Matsumoto;
Koji Matsukawa;
Naruaki Watanabe;
Yuya Kishino;
Hayato Kunugi;
Ryoko Ihara;
Tomoko Wakabayashi;
Tadafumi Hashimoto;
Takeshi Iwatsubo

Publication type:

Article

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1343, doi. 10.1093/hmg/ddy045

By:

Ufartes, Roser;
Schwenty-Lara, Janina;
Freese, Luisa;
Neuhofer, Christiane;
Möller, Janika;
Wehner, Peter;
van Ravenswaaij-Arts, Conny M. A.;
Wong, Monica T. Y.;
Schanze, Ina;
Tzschach, Andreas;
Bartsch, Oliver;
Borchers, Annette;
Pauli, Silke

Publication type:

Article

Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1396, doi. 10.1093/hmg/ddy050

By:

Chopra, Ravi;
Wasserman, Aaron H.;
Pulst, Stefan M.;
De Zeeuw, Chris I.;
Shakkottai, Vikram G.

Publication type:

Article

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 8, p. 1311, doi. 10.1093/hmg/ddy041

By:

Parakh, Sonam;
Jagaraj, Cyril J.;
Vidal, Marta;
Ragagnin, Audrey M. G.;
Perri, Emma R.;
Konopka, Anna;
Toth, Reka P.;
Galper, Jasmin;
Blair, Ian P.;
Thomas, Colleen J.;
Walker, Adam K.;
Shu Yang;
Spencer, Damian M.;
Atkin, Julie D.

Publication type:

Article