Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 13

Results: 16

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 13, p. 2407, doi. 10.1093/hmg/ddy208
Publication type:: Article

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2276, doi. 10.1093/hmg/ddy133

By:

Tajan, Mylène;
Pernin-Grandjean, Julie;
Beton, Nicolas;
Gennero, Isabelle;
Capilla, Florence;
Neel, Benjamin G.;
Toshiyuki Araki;
Valet, Philippe;
Tauber, Maithé;
Salles, Jean-Pierre;
Yart, Armelle;
Edouard, Thomas

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 13, p. 2405, doi. 10.1093/hmg/ddy138
Publication type:: Article

Identification of novel circulatory microRNA signatures linked to patients with ischemic stroke.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2318, doi. 10.1093/hmg/ddy136

By:

Vijayan, Murali;
Kumar, Subodh;
Xiangling Yin;
Zafer, Dila;
Chanana, Vishal;
Cengiz, Pelin;
Reddy, P. Hemachandra

Publication type:

Article

SUMOylation of XRCC1 activated by poly (ADP-ribosyl)ation regulates DNA repair.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2306, doi. 10.1093/hmg/ddy135

By:

Ling-Yueh Hu;
Che-Chang Chang;
Yen-Sung Huang;
Wen-Cheng Chou;
Ying-Mei Lin;
Chun-Chen Ho;
Wei-Ting Chen;
Hsiu-Ming Shih;
Chia-Ni Hsiung;
Pei-Ei Wu;
Chen-Yang Shen

Publication type:

Article

Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2290, doi. 10.1093/hmg/ddy134

By:

Choi, Jason C.;
Wei Wu;
Phillips, Elizabeth;
Plevin, Robin;
Fusako Sera;
Homma, Shunichi;
Worman, Howard J.

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 13, p. 2406, doi. 10.1093/hmg/ddy196
Publication type:: Article

A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2383, doi. 10.1093/hmg/ddy132

By:

Jurynec, Michael J.;
Sawitzke, Allen D.;
Beals, Timothy C.;
Redd, Michael J.;
Stevens, Jeff;
Otterud, Brith;
Leppert, Mark F.;
Grunwald, David Jonah

Publication type:

Article

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2392, doi. 10.1093/hmg/ddy140

By:

Patel, Zubin H.;
Xiaoming Lu;
Miller, Daniel;
Forney, Carmy R.;
Lee, Joshua;
Lynch, Arthur;
Schroeder, Connor;
Parks, Lois;
Magnusen, Albert F.;
Xiaoting Chen;
Pujato, Mario;
Maddox, Avery;
Zoller, Erin E.;
Namjou, Bahram;
Brunner, Hermine I.;
Henrickson, Michael;
Huggins, Jennifer L.;
Williams, Adrienne H.;
Ziegler, Julie T.;
Comeau, Mary E.

Publication type:

Article

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2262, doi. 10.1093/hmg/ddy131

By:

Bellesso, Stefania;
Salvalaio, Marika;
Lualdi, Susanna;
Tognon, Elisa;
Costa, Roberto;
Braghetta, Paola;
Giraudo, Chiara;
Stramare, Roberto;
Rigon, Laura;
Filocamo, Mirella;
Tomanin, Rosella;
Moro, Enrico

Publication type:

Article

Inositol trisphosphate receptor-mediated Ca<sup>2+</sup> signalling stimulates mitochondrial function and gene expression in core myopathy patients.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2367, doi. 10.1093/hmg/ddy149

By:

Suman, Matteo;
Sharpe, Jenny A.;
Bentham, Robert B.;
Kotiadis, Vassilios N.;
Menegollo, Michela;
Pignataro, Viviana;
Molgó, Jordi;
Muntoni, Francesco;
Duchen, Michael R.;
Pegoraro, Elena;
Szabadkai, Gyorgy

Publication type:

Article

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2357, doi. 10.1093/hmg/ddy144

By:

Qian Yu;
Bingying Lin;
Shangqian Xie;
Song Gao;
Wei Li;
Yizhi Liu;
Hongwei Wang;
Danping Huang;
Zhi Xie

Publication type:

Article

The c-Abl inhibitor, Radotinib HCl, is neuroprotective in a preclinical Parkinson's disease mouse model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2344, doi. 10.1093/hmg/ddy143

By:

Saebom Lee;
Sangjune Kim;
Yong Joo Park;
Seung Pil Yun;
Seung-Hwan Kwon;
Donghoon Kim;
Dong Yeon Kim;
Jae Soo Shin;
Dae Jin Cho;
Gong Yeal Lee;
Hyun Soo Ju;
Hyo Jung Yun;
Jae Hong Park;
Wonjoong Richard Kim;
Eun Ah Jung;
Seulki Lee;
Han Seok Ko

Publication type:

Article

Identification of distinct conformations associated with monomers and fibril assemblies of mutant huntingtin.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2330, doi. 10.1093/hmg/ddy141

By:

Ko, Jan;
Isas, J. Mario;
Sabbaugh, Adam;
Jung Hyun Yoo;
Pandey, Nitin K.;
Chongtham, Anjalika;
Ladinsky, Mark;
Wei-Li Wu;
Rohweder, Heike;
Weiss, Andreas;
Macdonald, Douglas;
Munoz-Sanjuan, Ignacio;
Langen, Ralf;
Patterson, Paul H.;
Khoshnan, Ali

Publication type:

Article

Differential effects of 14-3-3 dimers on Tau phosphorylation, stability and toxicity in vivo.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2244, doi. 10.1093/hmg/ddy129

By:

Papanikolopoulou, Katerina;
Grammenoudi, Sofia;
Samiotaki, Martina;
Skoulakis, Efthimios M. C.

Publication type:

Article

Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 13, p. 2225, doi. 10.1093/hmg/ddy128

By:

Choi, Elliot H.;
Suh, Susie;
Sander, Christopher L.;
Hernandez, Christian J. Ortiz;
Bulman, Elizabeth R.;
Khadka, Nimesh;
Zhiqian Dong;
Wuxian Shi;
Palczewski, Krzysztof;
Kiser, Philip D.

Publication type:

Article