Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 3

Results: 27

Zebrafish cul4a, but not cul4b, modulates cardiac and forelimb development by upregulating tbx5a expression.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 853, doi. 10.1093/hmg/ddu503

By:

Xiaohan Zhao;
Baichun Jiang;
Huili Hu;
Fei Mao;
Jun Mi;
Zhaohui Li;
Qiji Liu;
Changshun Shao;
Yaoqin Gong

Publication type:

Article

Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 740, doi. 10.1093/hmg/ddu492

By:

Yoshihiro Kino;
Chika Washizu;
Masaru Kurosawa;
Yoko Oma;
Nobutaka Hattori;
Shoichi Ishiura;
Nobuyuki Nukina

Publication type:

Article

LncRNA-HOST2 regulates cell biological behaviors in epithelial ovarian cancer through a mechanism involving microRNA let-7b.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 841, doi. 10.1093/hmg/ddu502

By:

Yuan Gao;
Hao Meng;
Shupeng Liu;
Jingjing Hu;
Yemin Zhang;
Tingting Jiao;
Yujie Liu;
Jun Ou;
Dan Wang;
Lin Yao;
Shanrong Liu;
Ning Hui

Publication type:

Article

Attenuation of Wnt/β-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 802, doi. 10.1093/hmg/ddu498

By:

Stubenvoll, Alexander;
Rice, Megan;
Wietelmann, Astrid;
Wheeler, Matthew;
Braun, Thomas

Publication type:

Article

Genome-wideassociation study in Chineseidentifies novel loci for blood pressure and hypertension.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 865, doi. 10.1093/hmg/ddu478

By:

Xiangfeng Lu;
Laiyuan Wang;
Xu Lin;
Jianfeng Huang;
Charles Gu, C.;
Meian He;
Hongbing Shen;
Jiang He;
Jingwen Zhu;
Huaixing Li;
James E. Hixson;
Tangchun Wu;
Juncheng Dai;
Ling Lu;
Chong Shen;
Shufeng Chen;
Lin He;
Zengnan Mo;
Yongchen Hao;
Xingbo Mo

Publication type:

Article

Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 670, doi. 10.1093/hmg/ddu487

By:

Ku, Cristy A.;
Chiodo, Vince A.;
Boye, Sanford L.;
Hayes, Abigail;
Goldberg, Andrew F.X.;
Hauswirth, William W.;
Ramamurthy, Visvanathan

Publication type:

Article

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca<sup>2+</sup> channels.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 637, doi. 10.1093/hmg/ddu477

By:

Yukari Endo;
Satoru Noguchi;
Yuji Hara;
Hayashi, Yukiko K.;
Kazushi Motomura;
Satoko Miyatake;
Nobuyuki Murakami;
Satsuki Tanaka;
Sumimasa Yamashita;
Rika Kizu;
Masahiro Bamba;
Yu-ichi Goto;
Naomichi Matsumoto;
Ikuya Nonaka;
Ichizo Nishino

Publication type:

Article

Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 698, doi. 10.1093/hmg/ddu489

By:

Aoto, Kazushi;
Trainor, Paul A.

Publication type:

Article

New susceptibility variants to narcolepsy identified in HLA class II region.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 891, doi. 10.1093/hmg/ddu480

By:

Taku Miyagawa;
Hiromi Toyoda;
Akane Hirataka;
Takashi Kanbayashi;
Aya Imanishi;
Yohei Sagawa;
Nozomu Kotorii;
Tatayu Kotorii;
Yuji Hashizume;
Kimihiro Ogi;
Hiroshi Hiejima;
Yuichi Kamei;
Akiko Hida;
Masayuki Miyamoto;
Makoto Imai;
Yota Fujimura;
Yoshiyuki Tamura;
Azusa Ikegami;
Yamato Wada;
Shunpei Moriya

Publication type:

Article

Activation of AMP-activated protein kinase α1 mediates mislocalization of TDP-43 in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 787, doi. 10.1093/hmg/ddu497

By:

Yu-Ju Liu;
Tz-Chuen Ju;
Hui-Mei Chen;
Yu-Sung Jang;
Li-Ming Lee;
Hsing-Lin Lai;
Hua-Chia Tai;
Jim-Min Fang;
Yun-Lian Lin;
Pang-Hsien Tu;
Yijuang Chern

Publication type:

Article

Cytoplasmic sequestration of FUS/TLS associated with ALS alters histone marks through loss of nuclear protein arginine methyltransferase 1.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 773, doi. 10.1093/hmg/ddu494

By:

Tibshirani, Michael;
Tradewell, Miranda L.;
Mattina, Katie R.;
Minotti, Sandra;
Yang, Wencheng;
Zhou, Hongru;
Strong, Michael J.;
Hayward, Lawrence J.;
Durham, Heather D.

Publication type:

Article

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 714, doi. 10.1093/hmg/ddu490

By:

Emmanuele, Valentina;
Kubota, Akatsuki;
Garcia-Diaz, Beatriz;
Garone, Caterina;
Akman, Hasan O.;
Sánchez-Gutiérrez, Daniel;
Escudero, Luis M.;
Kariya, Shingo;
Homma, Shunichi;
Tanji, Kurenai;
Quinzii, Catarina M.;
Hirano, Michio

Publication type:

Article

Opposing roles of p38 andJNKin a Drosophila model of TDP-43 proteinopathy reveal oxidative stress and innate immunity as pathogenic components of neurodegeneration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 757, doi. 10.1093/hmg/ddu493

By:

Zhan, Lihong;
Xie, Qijing;
Tibbetts, Randal S.

Publication type:

Article

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 659, doi. 10.1093/hmg/ddu486

By:

Lemmers, Richard J.L.F.;
Goeman, Jelle J.;
van der Vliet, Patrick J.;
van Nieuwenhuizen, Merlijn P.;
Balog, Judit;
Vos-Versteeg, Marianne;
Camano, Pilar;
Ramos Arroyo, Maria Antonia;
Jerico, Ivonne;
Rogers, Mark T.;
Miller, Daniel G.;
Upadhyaya, Meena;
Verschuuren, Jan J.G.M.;
de Munain Arregui, Adolfo Lopez;
van Engelen, Baziel G.M.;
Padberg, George W.;
Sacconi, Sabrina;
Tawil, Rabi;
Tapscott, Stephen J.;
Bakker, Bert

Publication type:

Article

Peripheral nerve and neuromuscular junction pathology in Pompe disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 625, doi. 10.1093/hmg/ddu476

By:

Falk, Darin J.;
Todd, Adrian Gary;
Lee, Sooyeon;
Soustek, Meghan S.;
ElMallah, Mai K.;
Fuller, David D.;
Notterpek, Lucia;
Byrne, Barry J.

Publication type:

Article

Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 814, doi. 10.1093/hmg/ddu499

By:

Zatyka, Malgorzata;
Da Silva Xavier, Gabriela;
Bellomo, Elisa A.;
Leadbeater, Wendy;
Astuti, Dewi;
Smith, Joel;
Michelangeli, Frank;
Rutter, Guy A.;
Barrett, Timothy G.

Publication type:

Article

SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 685, doi. 10.1093/hmg/ddu488

By:

Li, Yunmin;
Kido, Tatsuo;
Garcia-Barcelo, Maria M.;
Tam, Paul K. H.;
Tabatabai, Z. Laura;
Chris Lau, Yun-Fai

Publication type:

Article

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 727, doi. 10.1093/hmg/ddu491

By:

Larivière, Roxanne;
Gaudet, Rébecca;
Gentil, Benoit J.;
Girard, Martine;
Conte, Talita Cristiane;
Minotti, Sandra;
Leclerc-Desaulniers, Kim;
Gehring, Kalle;
McKinney, R. Anne;
Shoubridge, Eric A.;
McPherson, Peter S.;
Durham, Heather D.;
Brais, Bernard

Publication type:

Article

ILDR1null mice, amodel of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 609, doi. 10.1093/hmg/ddu474

By:

Morozko, Eva L.;
Nishio, Ayako;
Ingham, Neil J.;
Chandra, Rashmi;
Fitzgerald, Tracy;
Martelletti, Elisa;
Borck, Guntram;
Wilson, Elizabeth;
Riordan, Gavin P.;
Wangemann, Philine;
Forge, Andrew;
Steel, Karen P.;
Liddle, Rodger A.;
Friedman, Thomas B.;
Belyantseva, Inna A.

Publication type:

Article

Prioritizing genes for X-linked diseases using population exome data.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 599, doi. 10.1093/hmg/ddu473

By:

Ge, Xiaoyan;
Kwok, Pui-Yan;
Shieh, Joseph T.C.

Publication type:

Article

Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 875, doi. 10.1093/hmg/ddu479

By:

Acevedo, Nathalie;
Reinius, Lovisa E.;
Greco, Dario;
Gref, Anna;
Orsmark-Pietras, Christina;
Persson, Helena;
Pershagen, Göran;
Hedlin, Gunilla;
Melén, Erik;
Scheynius, Annika;
Kere, Juha;
Söderhäll, Cilla

Publication type:

Article

Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 828, doi. 10.1093/hmg/ddu500

By:

Carroll, Jean;
Page, Tristan K.W.;
Shih-Chieh Chiang;
Kalmar, Bernadett;
Bode, David;
Greensmith, Linda;
Mckinnon, Peter J;
Thorpe, Julian R.;
Hafezparast, Majid;
El-Khamisy, Sherif F.

Publication type:

Article

Reduction of hRNase H2 activity in Aicardi– Goutières syndrome cells leads to replication stress and genome instability

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 649, doi. 10.1093/hmg/ddu485

By:

Pizzi, Sara;
Sertic, Sarah;
Orcesi, Simona;
Cereda, Cristina;
Bianchi, Marika;
Jackson, Andrew P.;
Lazzaro, Federico;
Plevani, Paolo;
Muzi-Falconi, Marco

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 3, p. NP, doi. 10.1093/hmg/ddu715
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 3, p. NP, doi. 10.1093/hmg/ddu637
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 3, p. NP, doi. 10.1093/hmg/ddu689
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 3, p. NP, doi. 10.1093/hmg/ddu663
Publication type:: Article