Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 5

Results: 12

Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 483, doi. 10.1093/hmg/ddl481

By:

Chiang, Ming-Chang;
Chen, Hui-Mei;
Lee, Yi-Hsin;
Chang, Hao-Hung;
Wu, Yi-Chih;
Soong, Bing-Wen;
Chen, Chiung-Mei;
Wu, Yih-Ru;
Liu, Chin-San;
Niu, Dau-Ming;
Wu, Jer-Yuarn;
Chen, Yuan-Tsong;
Chern, Yijuang

Publication type:

Article

Stat5 constitutive activation rescues defects in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 499, doi. 10.1093/hmg/ddl482

By:

Ting, Chen-Hung;
Lin, Chiao-Wei;
Wen, Shin-Lan;
Hsieh-Li, Hsiu-Mei;
Li, Hung

Publication type:

Article

A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 573, doi. 10.1093/hmg/ddm017

By:

Bogdanova, Nadia;
Horst, Jürgen;
Chlystun, Marcin;
Croucher, Peter J.P.;
Nebel, Almut;
Bohring, Axel;
Todorova, Albena;
Schreiber, Stefan;
Gerke, Volker;
Krawczak, Michael;
Markoff, Arseni

Publication type:

Article

Reduced perlecan in mice results in chondrodysplasia resembling Schwartz–Jampel syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 515, doi. 10.1093/hmg/ddl484

By:

Rodgers, Kathryn D.;
Sasaki, Takako;
Aszodi, Attila;
Jacenko, Olena

Publication type:

Article

Extreme context specificity in differential allelic expression.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 537, doi. 10.1093/hmg/ddl488

By:

Wilkins, James M.;
Southam, Lorraine;
Price, Andrew J.;
Mustafa, Zehra;
Carr, Andrew;
Loughlin, John

Publication type:

Article

Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 555, doi. 10.1093/hmg/ddm011

By:

Blard, Olivier;
Feuillette, Sébastien;
Bou, Jacqueline;
Chaumette, Boris;
Frébourg, Thierry;
Campion, Dominique;
Lecourtois, Magalie

Publication type:

Article

Loss of functional ELOVL4 depletes very long-chain fatty acids (≥C28) and the unique ω-O-acylceramides in skin leading to neonatal death.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 471, doi. 10.1093/hmg/ddl480

By:

Vasireddy, Vidyullatha;
Uchida, Yoshikazu;
Salem, Norman;
Kim, Soo Yeon;
Mandal, Md Nawajesh Ali;
Reddy, Geereddy Bhanuprakash;
Bodepudi, Ravi;
Alderson, Nathan L.;
Brown, Johnie C.;
Hama, Hiroko;
Dlugosz, Andrzej;
Elias, Peter M.;
Holleran, Walter M.;
Ayyagari, Radha

Publication type:

Article

Heritable rather than age-related environmental and stochastic factors dominate variation in DNA methylation of the human IGF2/H19 locus.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 547, doi. 10.1093/hmg/ddm010

By:

Heijmans, Bastiaan T.;
Kremer, Dennis;
Tobi, Elmar W.;
Boomsma, Dorret I.;
Slagboom, P. Eline

Publication type:

Article

Human SULT1A1 gene: copy number differences and functional implications.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 463, doi. 10.1093/hmg/ddl468

By:

Hebbring, Scott J.;
Adjei, Araba A.;
Baer, Janel L.;
Jenkins, Gregory D.;
Zhang, Jianping;
Cunningham, Julie M.;
Schaid, Daniel J.;
Weinshilboum, Richard M.;
Thibodeau, Stephen N.

Publication type:

Article

Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 529, doi. 10.1093/hmg/ddl485

By:

Massey-Harroche, Dominique;
Delgrossi, Marie-Hélène;
Lane-Guermonprez, Lydie;
Arsanto, Jean-Pierre;
Borg, Jean-Paul;
Billaud, Marc;
Le Bivic, André

Publication type:

Article

Characterization of a recurrent 15q24 microdeletion syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016

By:

Sharp, Andrew J.;
Selzer, Rebecca R.;
Veltman, Joris A.;
Gimelli, Stefania;
Gimelli, Giorgio;
Striano, Pasquale;
Coppola, Antonietta;
Regan, Regina;
Price, Sue M.;
Knoers, Nine V.;
Eis, Peggy S.;
Brunner, Han G.;
Hennekam, Raoul C.;
Knight, Samantha J.L.;
de Vries, Bert B.A.;
Zuffardi, Orsetta;
Eichler, Evan E.

Publication type:

Article

Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 453, doi. 10.1093/hmg/ddl462

By:

Hennah, William;
Tomppo, Liisa;
Hiekkalinna, Tero;
Palo, Outi M.;
Kilpinen, Helena;
Ekelund, Jesper;
Tuulio-Henriksson, Annamari;
Silander, Kaisa;
Partonen, Timo;
Paunio, Tiina;
Terwilliger, Joseph D.;
Lönnqvist, Jouko;
Peltonen, Leena

Publication type:

Article