Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 14

Results: 12

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways†.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1682, doi. 10.1093/hmg/ddm116

By:

Nishimura, Yuhei;
Martin, Christa L.;
Vazquez-Lopez, Araceli;
Spence, Sarah J.;
Alvarez-Retuerto, Ana Isabel;
Sigman, Marian;
Steindler, Corinna;
Pellegrini, Sandra;
Schanen, N. Carolyn;
Warren, Stephen T.;
Geschwind, Daniel H.

Publication type:

Article

Meta-analysis of association between the ASPN D-repeat and osteoarthritis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1676, doi. 10.1093/hmg/ddm115

By:

Nakamura, Takahiro;
Shi, Dongquan;
Tzetis, Maria;
Rodriguez-Lopez, Julio;
Miyamoto, Yoshinari;
Tsezou, Aspasia;
Gonzalez, Antonio;
Jiang, Qing;
Kamatani, Naoyuki;
Loughlin, John;
Ikegawa, Shiro

Publication type:

Article

A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1765, doi. 10.1093/hmg/ddm124

By:

Zhu, Haiyan;
Tucker, H. Michael;
Grear, Karrie E.;
Simpson, James F.;
Manning, Alisa K.;
Cupples, L. Adrienne;
Estus, Steven

Publication type:

Article

Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1728, doi. 10.1093/hmg/ddm121

By:

Leighton, Matthew P.;
Nundlall, Seema;
Starborg, Tobias;
Meadows, Roger S.;
Suleman, Farhana;
Knowles, Lynette;
Wagener, Raimund;
Thornton, David J.;
Kadler, Karl E.;
Boot-Handford, Raymond P.;
Briggs, Michael D.

Publication type:

Article

The tumor suppressor merlin interacts with microtubules and modulates Schwann cell microtubule cytoskeleton.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1742, doi. 10.1093/hmg/ddm122

By:

Muranen, Taru;
Grönholm, Mikaela;
Lampin, Aurelie;
Lallemand, Dominique;
Zhao, Fang;
Giovannini, Marco;
Carpén, Olli

Publication type:

Article

Impairments in impulse control in mice transgenic for the human FTDP-17 tauV337M mutation are exacerbated by age.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1708, doi. 10.1093/hmg/ddm119

By:

Lambourne, Sarah L.;
Humby, Trevor;
Isles, Anthony R.;
Emson, Piers C.;
Spillantini, Maria G.;
Wilkinson, Lawrence S.

Publication type:

Article

Missense mutations associated with Diamond–Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1720, doi. 10.1093/hmg/ddm120

By:

Angelini, Mara;
Cannata, Stefano;
Mercaldo, Valentina;
Gibello, Luisa;
Santoro, Claudio;
Dianzani, Irma;
Loreni, Fabrizio

Publication type:

Article

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1699, doi. 10.1093/hmg/ddm118

By:

Comitato, Antonella;
Spampanato, Carmine;
Chakarova, Christina;
Sanges, Daniela;
Bhattacharya, Shomi S.;
Marigo, Valeria

Publication type:

Article

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1773, doi. 10.1093/hmg/ddm125

By:

Hilton, Emma N.;
Manson, Forbes D.C.;
Urquhart, Jill E.;
Johnston, Jennifer J.;
Slavotinek, Anne M.;
Hedera, Peter;
Stattin, Eva-Lena;
Nordgren, Ann;
Biesecker, Leslie G.;
Black, Graeme C.M.

Publication type:

Article

Filamin B mutations cause chondrocyte defects in skeletal development.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1661, doi. 10.1093/hmg/ddm114

By:

Lu, Jie;
Lian, Gewei;
Lenkinski, Robert;
De Grand, Alec;
Vaid, R. Roy;
Bryce, Thomas;
Stasenko, Marina;
Boskey, Adele;
Walsh, Christopher;
Sheen, Volney

Publication type:

Article

An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1752, doi. 10.1093/hmg/ddm123

By:

Wen, Gen;
Wessel, Jennifer;
Zhou, Weidong;
Ehret, Georg B.;
Rao, Fangwen;
Stridsberg, Mats;
Mahata, Sushil K.;
Gent, Peter M.;
Das, Madhusudan;
Cooper, Richard S.;
Chakravarti, Aravinda;
Zhou, Huilin;
Schork, Nicholas J.;
O'Connor, Daniel T.;
Hamilton, Bruce A.

Publication type:

Article

Identification of a novel role of ZIC3 in regulating cardiac development.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1649, doi. 10.1093/hmg/ddm106

By:

Zhu, Lirong;
Harutyunyan, Karine G.;
Peng, Jian Lan;
Wang, Jun;
Schwartz, Robert J.;
Belmont, John W.

Publication type:

Article