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 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
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
Subscription Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt636
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
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
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
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
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
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
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
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
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
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
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
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
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
Cover Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt633
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
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
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
Contents Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 1, p. NP, doi. 10.1093/hmg/ddt635
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