Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 6

Results: 15

Analysis of experience-regulated transcriptome and imprintome during critical periods of mouse visual system development reveals spatiotemporal dynamics.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1039, doi. 10.1093/hmg/ddy023

By:

Chi-Lin Hsu;
Chih-Hsuan Chou;
Shih-Chuan Huang;
Chia-Yi Lin;
Meng-Ying Lin;
Chun-Che Tung;
Chun-Yen Lin;
Lai, Ivan Pochou;
Yan-Fang Zou;
Youngson, Neil A.;
Shau-Ping Lin;
Chang-Hao Yang;
Shih-Kuo Chen;
Susan Shur-Fen Gau;
Hsien-Sung Huang

Publication type:

Article

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1093, doi. 10.1093/hmg/ddy031

By:

Bosakova, Michaela Kunova;
Varecha, Miroslav;
Hampl, Marek;
Duran, Ivan;
Nita, Alexandru;
Buchtova, Marcela;
Dosedelova, Hana;
Machat, Radek;
Yangli Xie;
Zhenhong Ni;
Martin, Jorge H.;
Lin Chen;
Jansen, Gert;
Krakow, Deborah;
Krejci, Pavel

Publication type:

Article

Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs’ dystrophy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1015, doi. 10.1093/hmg/ddy018

By:

Jiaxin Hu;
Ziye Rong;
Xin Gong;
Zhengyang Zhou;
Sharma, Vivek K.;
Chao Xing;
Watts, Jonathan K.;
Corey, David R.;
Mootha, V. Vinod

Publication type:

Article

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1055, doi. 10.1093/hmg/ddy026

By:

Owings, Katie G.;
Lowry, Joshua B.;
Bi, Yiling;
Might, Matthew;
Chow, Clement Y.

Publication type:

Article

Pathophysiological analyses of leptomeningeal heterotopia using gyrencephalic mammals.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 985, doi. 10.1093/hmg/ddy014

By:

Naoyuki Matsumoto;
Naoki Kobayashi;
Natsu Uda;
Miwako Hirota;
Hiroshi Kawasaki

Publication type:

Article

Functional rescue of misfolding ABCA3 mutations by small molecular correctors.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 943, doi. 10.1093/hmg/ddy011

By:

Kinting, Susanna;
Höppner, Stefanie;
Schindlbeck, Ulrike;
Forstner, Maria E.;
Harfst, Jacqueline;
Wittmann, Thomas;
Griese, Matthias

Publication type:

Article

Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1078, doi. 10.1093/hmg/ddy029

By:

Truch, Kathrin;
Arter, Juliane;
Turnescu, Tanja;
Weider, Matthias;
Hartwig, Anna C.;
Tamm, Ernst R.;
Sock, Elisabeth;
Wegner, Michael

Publication type:

Article

Genome-wide comparison of allele-specific gene expression between African and European populations.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1067, doi. 10.1093/hmg/ddy027

By:

Lei Tian;
Khan, Asifullah;
Zhilin Ning;
Kai Yuan;
Chao Zhang;
Haiyi Lou;
Yuan Yuan;
Yuan Yuan

Publication type:

Article

Effect of diazoxide on Friedreich ataxia models.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 992, doi. 10.1093/hmg/ddy016

By:

Santoro, Antonella;
Virmouni, Sara Anjomani;
Paradies, Eleonora;
Coa, Valentina L. Villalobos;
Al-Mahdawi, Sahar;
Khoo, Mee;
Porcelli, Vito;
Vozza, Angelo;
Perrone, Mara;
Denora, Nunzio;
Taroni, Franco;
Merla, Giuseppe;
Palmieri, Luigi;
Pook, Mark A.;
Marobbio, Carlo M. T.

Publication type:

Article

The female epilepsy protein PCDH19 is a new GABA<sub>A</sub>R-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1027, doi. 10.1093/hmg/ddy019

By:

Bassani, Silvia;
Cwetsch, Andrzej W.;
Gerosa, Laura;
Serratto, Giulia M.;
Folci, Alessandra;
Hall, Ignacio F.;
Mazzanti, Michele;
Cancedda, Laura;
Passafaro, Maria

Publication type:

Article

Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 969, doi. 10.1093/hmg/ddy013

By:

Carotti, Marcello;
Marsolier, Justine;
Soardi, Michela;
Bianchini, Elisa;
Gomiero, Chiara;
Fecchio, Chiara;
Henriques, Sara F.;
Betto, Romeo;
Sacchetto, Roberta;
Richard, Isabelle;
Sandonà, Dorianna

Publication type:

Article

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 954, doi. 10.1093/hmg/ddy012

By:

Niemir, Natalia;
Rouvière, Laura;
Besse, Aurore;
Vanier, Marie T.;
Dmytrus, Jasmin;
Marais, Thibaut;
Astord, Stéphanie;
Puech, Jean-Philippe;
Panasyuk, Ganna;
Cooper, Jonathan D.;
Barkats, Martine;
Caillaud, Catherine

Publication type:

Article

RAGE mediates Aβ accumulation in a mouse model of Alzheimer’s disease via modulation of β- and γ-secretase activity.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1002, doi. 10.1093/hmg/ddy017

By:

Fang Fang;
Qing Yu;
Arancio, Ottavio;
Chen, Doris;
Gore, Smruti S.;
Yan, Shirley ShiDu;
Shi Fang Yan

Publication type:

Article

Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 6, p. 1106, doi. 10.1093/hmg/ddy006

By:

Zaghlool, Shaza B.;
Mook-Kanamori, Dennis O.;
Kader, Sara;
Stephan, Nisha;
Halama, Anna;
Engelke, Rudolf;
Sarwath, Hina;
Al-Dous, Eman K.;
Mohamoud, Yasmin A.;
Roemisch-Margl, Werner;
Adamski, Jerzy;
Kastenmuüller, Gabi;
Friedrich, Nele;
Visconti, Alessia;
Tsai, Pei-Chien;
Spector, Tim;
Bell, Jordana T.;
Falchi, Mario;
Wahl, Annika;
Waldenberger, Melanie

Publication type:

Article

CORRIGENDUM: Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 6, p. 1122, doi. 10.1093/hmg/ddx439
Publication type:: Article