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

Results: 19

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

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

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

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

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