Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 18

Results: 20

GATA3 controls the specification of prosensory domain and neuronal survival in the mouse cochlea.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3609, doi. 10.1093/hmg/ddt212

By:

Luo, Xiong-jian;
Deng, Min;
Xie, Xiaoling;
Huang, Liang;
Wang, Hui;
Jiang, Lichun;
Liang, Guoqing;
Hu, Fang;
Tieu, Roger;
Chen, Rui;
Gan, Lin

Publication type:

Article

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3690, doi. 10.1093/hmg/ddt222

By:

Groen, Ewout J.N.;
Fumoto, Katsumi;
Blokhuis, Anna M.;
Engelen-Lee, JooYeon;
Zhou, Yeping;
van den Heuvel, Dianne M.A.;
Koppers, Max;
van Diggelen, Femke;
van Heest, Jessica;
Demmers, Jeroen A.A.;
Kirby, Janine;
Shaw, Pamela J.;
Aronica, Eleonora;
Spliet, Wim G.M.;
Veldink, Jan H.;
van den Berg, Leonard H.;
Pasterkamp, R. Jeroen

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 18, p. NP, doi. 10.1093/hmg/ddt416
Publication type:: Article

A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3705, doi. 10.1093/hmg/ddt223

By:

Christensen, K.E.;
Deng, L.;
Leung, K.Y.;
Arning, E.;
Bottiglieri, T.;
Malysheva, O.V.;
Caudill, M.A.;
Krupenko, N.I.;
Greene, N.D.;
Jerome-Majewska, L.;
MacKenzie, R.E.;
Rozen, R.

Publication type:

Article

Genome-wide loss of 5-hmC is a novel epigenetic feature of Huntington's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3641, doi. 10.1093/hmg/ddt214

By:

Wang, Fengli;
Yang, Yeran;
Lin, Xiwen;
Wang, Jiu-Qiang;
Wu, Yong-Sheng;
Xie, Wenjuan;
Wang, Dandan;
Zhu, Shu;
Liao, You-Qi;
Sun, Qinmiao;
Yang, Yun-Gui;
Luo, Huai-Rong;
Guo, Caixia;
Han, Chunsheng;
Tang, Tie-Shan

Publication type:

Article

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3807, doi. 10.1093/hmg/ddt231

By:

Fatemifar, Ghazaleh;
Hoggart, Clive J.;
Paternoster, Lavinia;
Kemp, John P.;
Prokopenko, Inga;
Horikoshi, Momoko;
Wright, Victoria J.;
Tobias, Jon H.;
Richmond, Stephen;
Zhurov, Alexei I.;
Toma, Arshed M.;
Pouta, Anneli;
Taanila, Anja;
Sipila, Kirsi;
Lähdesmäki, Raija;
Pillas, Demetris;
Geller, Frank;
Feenstra, Bjarke;
Melbye, Mads;
Nohr, Ellen A.

Publication type:

Article

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3761, doi. 10.1093/hmg/ddt227

By:

Müller, Thomas;
Mizumoto, Shuji;
Suresh, Indrajit;
Komatsu, Yoshie;
Vodopiutz, Julia;
Dundar, Munis;
Straub, Volker;
Lingenhel, Arno;
Melmer, Andreas;
Lechner, Silvia;
Zschocke, Johannes;
Sugahara, Kazuyuki;
Janecke, Andreas R.

Publication type:

Article

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3680, doi. 10.1093/hmg/ddt217

By:

Jorge-Finnigan, Ana;
Brasil, Sandra;
Underhaug, Jarl;
Ruíz-Sala, Pedro;
Merinero, Begoña;
Banerjee, Ruma;
Desviat, Lourdes R.;
Ugarte, Magdalena;
Martinez, Aurora;
Pérez, Belén

Publication type:

Article

Silencing of the Drosophila ortholog of SOX5 in heart leads to cardiac dysfunction as detected by optical coherence tomography.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3798

By:

Li, Airong;
Ahsen, Osman O.;
Liu, Jonathan J.;
Du, Chuang;
McKee, Mary L.;
Yang, Yan;
Wasco, Wilma;
Newton-Cheh, Christopher H.;
O'Donnell, Christopher J.;
Fujimoto, James G.;
Zhou, Chao;
Tanzi, Rudolph E.

Publication type:

Article

Dual AAV therapy ameliorates exercise-induced muscle injury and functional ischemia in murine models of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3720, doi. 10.1093/hmg/ddt224

By:

Zhang, Yadong;
Yue, Yongping;
Li, Liang;
Hakim, Chady H.;
Zhang, Keqing;
Thomas, Gail D.;
Duan, Dongsheng

Publication type:

Article

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3654, doi. 10.1093/hmg/ddt215

By:

Esposito, Teresa;
Lea, Rod A.;
Maher, Bridget H.;
Moses, Dianne;
Cox, Hannah C.;
Magliocca, Sara;
Angius, Andrea;
Nyholt, Dale R.;
Titus, Thomas;
Kay, Troy;
Gray, Nicholas A.;
Rastaldi, Maria P.;
Parnham, Alan;
Gianfrancesco, Fernando;
Griffiths, Lyn R.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 18, p. NP, doi. 10.1093/hmg/ddt415
Publication type:: Article

Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3730, doi. 10.1093/hmg/ddt225

By:

Mandal, Prabhat K.;
Ewing, Adam D.;
Hancks, Dustin C.;
Kazazian, Haig H.

Publication type:

Article

A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3789, doi. 10.1093/hmg/ddt229

By:

Zhang, Zhe;
Norris, Joy;
Kalscheuer, Vera;
Wood, Tim;
Wang, Lin;
Schwartz, Charles;
Alexov, Emil;
Van Esch, Hilde

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 18, p. NP, doi. 10.1093/hmg/ddt413
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 18, p. NP, doi. 10.1093/hmg/ddt414
Publication type:: Article

MicroRNA-22 and promoter motif polymorphisms at the Chga locus in genetic hypertension: functional and therapeutic implications for gene expression and the pathogenesis of hypertension.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3624, doi. 10.1093/hmg/ddt213

By:

Friese, Ryan S.;
Altshuler, Angelina E.;
Zhang, Kuixing;
Miramontes-Gonzalez, Jose Pablo;
Hightower, C. Makena;
Jirout, Martin L.;
Salem, Rany M.;
Gayen, Jiaur R.;
Mahapatra, Nitish R.;
Biswas, Nilima;
Cale, Mo;
Vaingankar, Sucheta M.;
Kim, Hyung-Suk;
Courel, Maïté;
Taupenot, Laurent;
Ziegler, Michael G.;
Schork, Nicholas J.;
Pravenec, Michal;
Mahata, Sushil K.;
Schmid-Schönbein, Geert W.

Publication type:

Article

The functional genetic link of NLGN4X knockdown and neurodevelopment in neural stem cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3749, doi. 10.1093/hmg/ddt226

By:

Shi, Lingling;
Chang, Xiao;
Zhang, Peilin;
Coba, Marcelo P.;
Lu, Wange;
Wang, Kai

Publication type:

Article

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3773, doi. 10.1093/hmg/ddt228

By:

Papal, Samantha;
Cortese, Matteo;
Legendre, Kirian;
Sorusch, Nasrin;
Dragavon, Joseph;
Sahly, Iman;
Shorte, Spencer;
Wolfrum, Uwe;
Petit, Christine;
El-Amraoui, Aziz

Publication type:

Article

The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 18, p. 3667, doi. 10.1093/hmg/ddt216

By:

Dunmore, Benjamin J.;
Drake, Kylie M.;
Upton, Paul D.;
Toshner, Mark R.;
Aldred, Micheala A.;
Morrell, Nicholas W.

Publication type:

Article