Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 1

Results: 28

Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron–sulfur cluster depletion in human skeletal muscle.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 24, doi. 10.1093/hmg/ddt393

By:

Crooks, Daniel R.;
Natarajan, Thanemozhi G.;
Jeong, Suh Young;
Chen, Chuming;
Park, Sun Young;
Huang, Hongzhan;
Ghosh, Manik C.;
Tong, Wing-Hang;
Haller, Ronald G.;
Wu, Cathy;
Rouault, Tracey A.

Publication type:

Article

A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 247, doi. 10.1093/hmg/ddt403

By:

Speed, Doug;
Hoggart, Clive;
Petrovski, Slave;
Tachmazidou, Ioanna;
Coffey, Alison;
Jorgensen, Andrea;
Eleftherohorinou, Hariklia;
De Iorio, Maria;
Todaro, Marian;
De, Tisham;
Smith, David;
Smith, Philip E.;
Jackson, Margaret;
Cooper, Paul;
Kellett, Mark;
Howell, Stephen;
Newton, Mark;
Yerra, Raju;
Tan, Meng;
French, Chris

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt634
Publication type:: Article

Promoter histone H3K27 methylation in the control of IGF2 imprinting in human tumor cell lines.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 117, doi. 10.1093/hmg/ddt405

By:

Li, Tao;
Chen, Huiling;
Li, Wei;
Cui, Jiuwei;
Wang, Guanjun;
Hu, Xiang;
Hoffman, Andrew R.;
Hu, Jifan

Publication type:

Article

A model for the molecular underpinnings of tooth defects in Axenfeld–Rieger syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 194, doi. 10.1093/hmg/ddt411

By:

Li, Xiao;
Venugopalan, Shankar R.;
Cao, Huojun;
Pinho, Flavia O.;
Paine, Michael L.;
Snead, Malcolm L.;
Semina, Elena V.;
Amendt, Brad A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt636
Publication type:: Article

Genome-wide association study identifies three novel loci for type 2 diabetes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 239

By:

Hara, Kazuo;
Fujita, Hayato;
Johnson, Todd A.;
Yamauchi, Toshimasa;
Yasuda, Kazuki;
Horikoshi, Momoko;
Peng, Chen;
Hu, Cheng;
Ma, Ronald C. W.;
Imamura, Minako;
Iwata, Minoru;
Tsunoda, Tatsuhiko;
Morizono, Takashi;
Shojima, Nobuhiro;
So, Wing Yee;
Leung, Ting Fan;
Kwan, Patrick;
Zhang, Rong;
Wang, Jie;
Yu, Weihui

Publication type:

Article

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 90, doi. 10.1093/hmg/ddt401

By:

Corradi, Anna;
Fadda, Manuela;
Piton, Amélie;
Patry, Lysanne;
Marte, Antonella;
Rossi, Pia;
Cadieux-Dion, Maxime;
Gauthier, Julie;
Lapointe, Line;
Mottron, Laurent;
Valtorta, Flavia;
Rouleau, Guy A.;
Fassio, Anna;
Benfenati, Fabio;
Cossette, Patrick

Publication type:

Article

Loss of caveolin-1 expression in knock-in mouse model of Huntington's disease suppresses pathophysiology in vivo.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 129, doi. 10.1093/hmg/ddt406

By:

Trushina, Eugenia;
Canaria, Christie A.;
Lee, Do-Yup;
McMurray, Cynthia T.

Publication type:

Article

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 157, doi. 10.1093/hmg/ddt408

By:

Udan-Johns, Maria;
Bengoechea, Rocio;
Bell, Shaughn;
Shao, Jieya;
Diamond, Marc I.;
True, Heather L.;
Weihl, Conrad C.;
Baloh, Robert H.

Publication type:

Article

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 52, doi. 10.1093/hmg/ddt395

By:

Garland, Donita L.;
Fernandez-Godino, Rosario;
Kaur, Inderjeet;
Speicher, Kaye D.;
Harnly, James M.;
Lambris, John D.;
Speicher, David W.;
Pierce, Eric A.

Publication type:

Article

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 281, doi. 10.1093/hmg/ddt507

By:

Tiscornia, Gustavo;
Lorenzo Vivas, Erika;
Matalonga, Leslie;
Berniakovich, Ina;
Barragán Monasterio, Montserrat;
Eguizábal, Cristina;
Gort, Laura;
González, Federico;
Ortiz Mellet, Carmen;
García Fernández, José Manuel;
Ribes, Antonia;
Veiga, Anna;
Izpisua Belmonte, Juan Carlos

Publication type:

Article

Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 182, doi. 10.1093/hmg/ddt410

By:

Iwata, Junichi;
Suzuki, Akiko;
Pelikan, Richard C.;
Ho, Thach-Vu;
Sanchez-Lara, Pedro A.;
Chai, Yang

Publication type:

Article

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 104, doi. 10.1093/hmg/ddt402

By:

Cook, Casey;
Carlomagno, Yari;
Gendron, Tania F.;
Dunmore, Judy;
Scheffel, Kristyn;
Stetler, Caroline;
Davis, Mary;
Dickson, Dennis;
Jarpe, Matthew;
DeTure, Michael;
Petrucelli, Leonard

Publication type:

Article

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 209, doi. 10.1093/hmg/ddt412

By:

Domenighetti, Andrea A.;
Chu, Pao-Hsien;
Wu, Tongbin;
Sheikh, Farah;
Gokhin, David S.;
Guo, Ling T.;
Cui, Ziyou;
Peter, Angela K.;
Christodoulou, Danos C.;
Parfenov, Michael G.;
Gorham, Joshua M.;
Li, Daniel Y.;
Banerjee, Indroneal;
Lai, Xianyin;
Witzmann, Frank A.;
Seidman, Christine E.;
Seidman, Jonathan G.;
Gomes, Aldrin V.;
Shelton, G. Diane;
Lieber, Richard L.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt633
Publication type:: Article

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 40, doi. 10.1093/hmg/ddt394

By:

Zhang, Yan;
Seo, Seongjin;
Bhattarai, Sajag;
Bugge, Kevin;
Searby, Charles C.;
Zhang, Qihong;
Drack, Arlene V.;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Tbx1 regulates brain vascularization.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 78, doi. 10.1093/hmg/ddt400

By:

Cioffi, Sara;
Martucciello, Stefania;
Fulcoli, Filomena Gabriella;
Bilio, Marchesa;
Ferrentino, Rosa;
Nusco, Edoardo;
Illingworth, Elizabeth

Publication type:

Article

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 171, doi. 10.1093/hmg/ddt409

By:

Ferreboeuf, Maxime;
Mariot, Virginie;
Bessières, Bettina;
Vasiljevic, Alexandre;
Attié-Bitach, Tania;
Collardeau, Sophie;
Morere, Julia;
Roche, Stéphane;
Magdinier, Frédérique;
Robin-Ducellier, Jérôme;
Rameau, Philippe;
Whalen, Sandra;
Desnuelle, Claude;
Sacconi, Sabrina;
Mouly, Vincent;
Butler-Browne, Gillian;
Dumonceaux, Julie

Publication type:

Article

GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 259, doi. 10.1093/hmg/ddt404

By:

Ledda, Mirko;
Kutalik, Zoltán;
Souza Destito, Maria C.;
Souza, Milena M.;
Cirillo, Cintia A.;
Zamboni, Amabilene;
Martin, Nathalie;
Morya, Edgard;
Sameshima, Koichi;
Beckmann, Jacques S.;
le Coutre, Johannes;
Bergmann, Sven;
Genick, Ulrich K.

Publication type:

Article

Epigenome-wide DNA methylation landscape of melanoma progression to brain metastasis reveals aberrations on homeobox D cluster associated with prognosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 226, doi. 10.1093/hmg/ddt420

By:

Marzese, Diego M.;
Scolyer, Richard A.;
Huynh, Jamie L.;
Huang, Sharon K.;
Hirose, Hajime;
Chong, Kelly K.;
Kiyohara, Eiji;
Wang, Jinhua;
Kawas, Neal P.;
Donovan, Nicholas C.;
Hata, Keisuke;
Wilmott, James S.;
Murali, Rajmohan;
Buckland, Michael E.;
Shivalingam, Brindha;
Thompson, John F.;
Morton, Donald L.;
Kelly, Daniel F.;
Hoon, Dave S.B.

Publication type:

Article

Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 12, doi. 10.1093/hmg/ddt392

By:

Richardson, Marcy E.;
Bleiziffer, Andreas;
Tüttelmann, Frank;
Gromoll, Jörg;
Wilkinson, Miles F.

Publication type:

Article

Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 1

By:

Wu, Wei;
Iwata, Shinichi;
Homma, Shunichi;
Worman, Howard J.;
Muchir, Antoine

Publication type:

Article

Hexokinase activity is required for recruitment of parkin to depolarized mitochondria.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 145, doi. 10.1093/hmg/ddt407

By:

McCoy, Melissa K.;
Kaganovich, Alice;
Rudenko, Iakov N.;
Ding, Jinhui;
Cookson, Mark R.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt635
Publication type:: Article

Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 268, doi. 10.1093/hmg/ddt417

By:

Wang, Danxin;
Poi, Ming J.;
Sun, Xiaochun;
Gaedigk, Andrea;
Leeder, J. Steven;
Sadee, Wolfgang

Publication type:

Article

Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 69, doi. 10.1093/hmg/ddt397

By:

Zhu, Haipeng;
Pytel, Peter;
Gomez, Christopher M.

Publication type:

Article

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 279, doi. 10.1093/hmg/ddt506

By:

Brault, Marie Eve;
Lauzon, Catherine;
Autexier, Chantal

Publication type:

Article