Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 14

Results: 15

ERRATUM.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 14, p. 2586, doi. 10.1093/hmg/ddy205
Publication type:: Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 14, p. 2587, doi. 10.1093/hmg/ddy228
Publication type:: Article

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2563, doi. 10.1093/hmg/ddy165

By:

Yu Zhou;
Shujin Li;
Lulin Huang;
Yeming Yang;
Lin Zhang;
Mu Yang;
Wenjing Liu;
Ramasamy, Kim;
Zhilin Jiang;
Sundaresan, Periasamy;
Xianjun Zhu;
Zhenglin Yang

Publication type:

Article

Glial expression of disease-associated poly-glutamine proteins impairs the blood-brain barrier in Drosophila.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2546, doi. 10.1093/hmg/ddy160

By:

Po-An Yeh;
Ya-Hsin Liu;
Wei-Chen Chu;
Jia-Yu Liu;
Sun, Y. Henry

Publication type:

Article

Pre-clinical symptoms of SBMA may not be androgen-dependent: implications from two SBMA mouse models.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2425, doi. 10.1093/hmg/ddy142

By:

Youfen Xu;
Katherine Halievski;
Masahisa Katsuno;
Hiroaki Adachi;
Sobue, Gen;
Breedlove, S. Marc;
Jordan, Cynthia L.

Publication type:

Article

A mutation-led search for novel functional domains in MeCP2.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2531, doi. 10.1093/hmg/ddy159

By:

Guy, Jacky;
Alexander-Howden, Beatrice;
FitzPatrick, Laura;
DeSousa, Dina;
Koerner, Martha V.;
Selfridge, Jim;
Bird, Adrian

Publication type:

Article

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2517, doi. 10.1093/hmg/ddy156

By:

Denton, Kyle;
Yongchao Mou;
Chong-Chong Xu;
Shah, Dhruvi;
Jaerak Chang;
Blackstone, Craig;
Xue-Jun Li

Publication type:

Article

PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2477, doi. 10.1093/hmg/ddy152

By:

Grande, Valentina;
Ornaghi, Francesca;
Comerio, Liliana;
Restelli, Elena;
Masone, Antonio;
Corbelli, Alessandro;
Tolomeo, Daniele;
Capone, Vanessa;
Axten, Jeffrey M.;
Laping, Nicholas J.;
Fiordaliso, Fabio;
Sallese, Michele;
Chiesa, Roberto

Publication type:

Article

Mutant APP and amyloid beta-induced defective autophagy, mitophagy, mitochondrial structural and functional changes and synaptic damage in hippocampal neurons from Alzheimer's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2502, doi. 10.1093/hmg/ddy154

By:

Reddy, P. Hemachandra;
XiangLing Yin;
Manczak, Maria;
Kumar, Subodh;
Pradeepkiran, Jangampalli Adi;
Vijayan, Murali;
Reddy, Arubala P.

Publication type:

Article

Stimulation of S1PR<sub>5</sub> with A-971432, a selective agonist, preserves blood-brain barrier integrity and exerts therapeutic effect in an animal model of Huntington's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2490, doi. 10.1093/hmg/ddy153

By:

Di Pardo, Alba;
Castaldo, Salvatore;
Amico, Enrico;
Pepe, Giuseppe;
Marracino, Federico;
Capocci, Luca;
Giovannelli, Alfredo;
Madonna, Michele;
van Bergeijk, Jeroen;
Buttari, Fabio;
van der Kam, Elizabeth;
Maglione, Vittorio

Publication type:

Article

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2409, doi. 10.1093/hmg/ddy130

By:

Velasco, Guillaume;
Grillo, Giacomo;
Touleimat, Nizar;
Ferry, Laure;
Ivkovic, Ivana;
Ribierre, Florence;
Deleuze, Jean-François;
Chantalat, Sophie;
Picard, Capucine;
Francastel, Claire

Publication type:

Article

Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2573, doi. 10.1093/hmg/ddy147

By:

McCoy, Rajiv C.;
Newnham, Louise J.;
Ottolini, Christian S.;
Hoffmann, Eva R.;
Chatzimeletiou, Katerina;
Cornejo, Omar E.;
Zhan, Qiansheng;
Zaninovic, Nikica;
Rosenwaks, Zev;
Petrov, Dmitri A.;
Demko, Zachary P.;
Sigurjonsson, Styrmir;
Handyside, Alan H.

Publication type:

Article

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2454, doi. 10.1093/hmg/ddy146

By:

Ning Liu;
Schoch, Kelly;
Xi Luo;
Pena, Loren D. M.;
Bhavana, Venkata Hemanjani;
Kukolich, Mary K.;
Stringer, Sarah;
Powis, Zöe;
Radtke, Kelly;
Mroske, Cameron;
Deak, Kristen L.;
McDonald, Marie T.;
McConkie-Rosell, Allyn;
Markert, M. Louise;
Kranz, Peter G.;
Stong, Nicholas;
Need, Anna C.;
Bick, David;
Amaral, Michelle D.;
Worthey, Elizabeth A.

Publication type:

Article

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2466, doi. 10.1093/hmg/ddy151

By:

Donadon, Irving;
Pinotti, Mirko;
Rajkowska, Katarzyna;
Pianigiani, Giulia;
Barbon, Elena;
Morini, Elisabetta;
Motaln, Helena;
Rogelj, Boris;
Mingozzi, Federico;
Slaugenhaupt, Susan A.;
Pagani, Franco

Publication type:

Article

Protective role of the lipid phosphatase Fig4 in the adult nervous system.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 14, p. 2443, doi. 10.1093/hmg/ddy145

By:

Mironova, Yevgeniya A.;
Jing-Ping Lin;
Kalinski, Ashley L.;
Huffman, Lucas D.;
Lenk, Guy M.;
Havton, Leif A.;
Meisler, Miriam H.;
Giger, Roman J.

Publication type:

Article