Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 12

Results: 19

Biological effects of CCS in the absence of SOD1 enzyme activation: implications for disease in a mouse model for ALS.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1728, doi. 10.1093/hmg/ddn063
By:
- Proescher, Jody B.;
- Son, Marjatta;
- Elliott, Jeffrey L.;
- Culotta, Valeria C.
Publication type:
Article
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1762, doi. 10.1093/hmg/ddn085
By:
- Fourcade, Stéphane;
- López-Erauskin, Jone;
- Galino, Jorge;
- Duval, Carine;
- Naudi, Alba;
- Jove, Mariona;
- Kemp, Stephan;
- Villarroya, Francesc;
- Ferrer, Isidre;
- Pamplona, Reinald;
- Portero-Otin, Manuel;
- Pujol, Aurora
Publication type:
Article
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1845, doi. 10.1093/hmg/ddn080
By:
- Bartoccioni, Paola;
- Rius, Mònica;
- Zorzano, Antonio;
- Palacín, Manuel;
- Chillarón, Josep
Publication type:
Article
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1803, doi. 10.1093/hmg/ddn072
By:
- Liu, Yong-Jun;
- Liu, Xiao-Gang;
- Wang, Liang;
- Dina, Christian;
- Yan, Han;
- Liu, Jian-Feng;
- Levy, Shawn;
- Papasian, Christopher J.;
- Drees, Betty M.;
- Hamilton, James J.;
- Meyre, David;
- Delplanque, Jerome;
- Pei, Yu-Fang;
- Zhang, Lei;
- Recker, Robert R.;
- Froguel, Philippe;
- Deng, Hong-Wen
Publication type:
Article
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1718, doi. 10.1093/hmg/ddn062
By:
- Samaco, Rodney C.;
- Fryer, John D.;
- Ren, Jun;
- Fyffe, Sharyl;
- Chao, Hsiao-Tuan;
- Sun, Yaling;
- Greer, John J.;
- Zoghbi, Huda Y.;
- Neul, Jeffrey L.
Publication type:
Article
Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1738, doi. 10.1093/hmg/ddn064
By:
- Beyer, Barbara;
- Deleuze, Charlotte;
- Letts, Verity A.;
- Mahaffey, Connie L.;
- Boumil, Rebecca M.;
- Lew, Timothy A.;
- Huguenard, John R.;
- Frankel, Wayne N.
Publication type:
Article
C3 R102G polymorphism increases risk of age-related macular degeneration.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1821, doi. 10.1093/hmg/ddn075
By:
- Spencer, Kylee L.;
- Olson, Lana M.;
- Anderson, Brent M.;
- Schnetz-Boutaud, Nathalie;
- Scott, William K.;
- Gallins, Paul;
- Agarwal, Anita;
- Postel, Eric A.;
- Pericak-Vance, Margaret A.;
- Haines, Jonathan L.
Publication type:
Article
New approach reveals CD28 and IFNG gene interaction in the susceptibility to cervical cancer.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1838, doi. 10.1093/hmg/ddn077
By:
- Guzman, Valeska B.;
- Yambartsev, Anatoly;
- Goncalves-Primo, Amador;
- Silva, Ismael D.C.G.;
- Carvalho, Carmen R.N.;
- Ribalta, Julisa C.L.;
- Goulart, Luiz Ricardo;
- Shulzhenko, Natalia;
- Gerbase-DeLima, Maria;
- Morgun, Andrey
Publication type:
Article
A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in Japanese.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1790, doi. 10.1093/hmg/ddn069
By:
- Mototani, Hideyuki;
- Iida, Aritoshi;
- Nakajima, Masahiro;
- Furuichi, Tatsuya;
- Miyamoto, Yoshinari;
- Tsunoda, Tatsuhiko;
- Sudo, Akihiro;
- Kotani, Akihiro;
- Uchida, Atsumasa;
- Ozaki, Kouichi;
- Tanaka, Yoshiya;
- Nakamura, Yusuke;
- Tanaka, Toshihiro;
- Notoya, Kohei;
- Ikegawa, Shiro
Publication type:
Article
A regulatory variation in OPRK1, the gene encoding the κ-opioid receptor, is associated with alcohol dependence.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1783, doi. 10.1093/hmg/ddn068
By:
- Edenberg, Howard J.;
- Wang, Jun;
- Tian, Huijun;
- Pochareddy, Sirisha;
- Xuei, Xiaoling;
- Wetherill, Leah;
- Goate, Alison;
- Hinrichs, Tony;
- Kuperman, Samuel;
- Nurnberger, John I.;
- Schuckit, Marc;
- Tischfield, Jay A.;
- Foroud, Tatiana
Publication type:
Article
Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1750, doi. 10.1093/hmg/ddn066
By:
- Hein, Sabine;
- Schönfeld, Peter;
- Kahlert, Stefan;
- Reiser, Georg
Publication type:
Article
R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1798, doi. 10.1093/hmg/ddn070
By:
- Meyre, David;
- Farge, Morgane;
- Lecoeur, Cécile;
- Proenca, Christine;
- Durand, Emmanuelle;
- Allegaert, Frédéric;
- Tichet, Jean;
- Marre, Michel;
- Balkau, Beverley;
- Weill, Jacques;
- Delplanque, Jérôme;
- Froguel, Philippe
Publication type:
Article
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1825, doi. 10.1093/hmg/ddn076
By:
- Corry, Gareth N.;
- Hendzel, Michael J.;
- Underhill, D. Alan
Publication type:
Article
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1855, doi. 10.1093/hmg/ddn081
By:
- Huang, Yanchao;
- de Morrée, Antoine;
- van Remoortere, Alexandra;
- Bushby, Kate;
- Frants, Rune R.;
- Dunnen, Johan Tden;
- van der Maarel, Silvère M.
Publication type:
Article
Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1867, doi. 10.1093/hmg/ddn082
By:
- Meulenbelt, Ingrid;
- Min, Josine L.;
- Bos, Steffan;
- Riyazi, Naghmeh;
- Houwing-Duistermaat, Jeanine J.;
- van der Wijk, Henk-Jan;
- Kroon, Herman M.;
- Nakajima, Masahiro;
- Ikegawa, Shiro;
- Uitterlinden, André G.;
- van Meurs, Joyce B.J.;
- van der Deure, Wendy M.;
- Visser, Theo J.;
- Seymour, Albert B.;
- Lakenberg, Nico;
- van der Breggen, Ruud;
- Kremer, Dennis;
- van Duijn, Cornelia M.;
- Kloppenburg, Margreet;
- Loughlin, John
Publication type:
Article
Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1707, doi. 10.1093/hmg/ddn061
By:
- Kerr, Bredford;
- Alvarez-Saavedra, Matías;
- Sáez, Mauricio A.;
- Saona, Alexandra;
- Young, Juan I.
Publication type:
Article
Monoallele deletion of CBP leads to pericentromeric heterochromatin condensation through ESET expression and histone H3 (K9) methylation.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1774, doi. 10.1093/hmg/ddn067
By:
- Lee, Junghee;
- Hagerty, Sean;
- Cormier, Kerry A.;
- Kim, Jinho;
- Kung, Andrew L.;
- Ferrante, Robert J.;
- Ryu, Hoon
Publication type:
Article
A functionally dominant mitochondrial DNA mutation.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
By:
- Sacconi, Sabrina;
- Salviati, Leonardo;
- Nishigaki, Yutaka;
- Walker, Winsome F.;
- Hernandez-Rosa, Evelyn;
- Trevisson, Eva;
- Delplace, Severine;
- Desnuelle, Claude;
- Shanske, Sara;
- Hirano, Michio;
- Schon, Eric A.;
- Bonilla, Eduardo;
- De Vivo, Darryl C.;
- DiMauro, Salvatore;
- Davidson, Mercy M.
Publication type:
Article
Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 12, p. 1876, doi. 10.1093/hmg/ddn103
By:
- Yan, Jincheng;
- Chen, Shi;
- Zhang, Yingze;
- Li, Xiaohong;
- Li, Yan;
- Wu, Xiaohua;
- Yuan, Jin;
- Robling, Alexander G.;
- Kapur, Reuben;
- Chan, Rebecca J.;
- Yang, Feng-Chun
Publication type:
Article