Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 7

Results: 15

ALOX5 variants associated with susceptibility to human pulmonary tuberculosis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 1052

By:

Herb, Florian;
Thye, Thorsten;
Niemann, Stefan;
Browne, Edmund N.L.;
Chinbuah, Margaret A.;
Gyapong, John;
Osei, Ivy;
Owusu-Dabo, Ellis;
Werz, Oliver;
Rüsch-Gerdes, Sabine;
Horstmann, Rolf D.;
Meyer, Christian G.

Publication type:

Article

SnoRNA U50 is a candidate tumor-suppressor gene at 6q14.3 with a mutation associated with clinically significant prostate cancer.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 1031

By:

Dong, Xue-Yuan;
Rodriguez, Carmen;
Guo, Peng;
Sun, Xiaodong;
Talbot, Jeffrey T.;
Zhou, Wei;
Petros, John;
Li, Qunna;
Vessella, Robert L.;
Kibel, Adam S.;
Stevens, Victoria L.;
Calle, Eugenia E.;
Dong, Jin-Tang

Publication type:

Article

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 949, doi. 10.1093/hmg/ddm367

By:

Murray, Lyndsay M.;
Comley, Laura H.;
Thomson, Derek;
Parkinson, Nick;
Talbot, Kevin;
Gillingwater, Thomas H.

Publication type:

Article

CRISPLD2: a novel NSCLP candidate gene.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 1061

By:

Chiquet, Brett T.;
Lidral, Andrew C.;
Stal, Samuel;
Mulliken, John B.;
Moreno, Lina M.;
Arcos-Burgos, Mauricio;
Valencia-Ramirez, Consuelo;
Blanton, Susan H.;
Hecht, Jacqueline T.

Publication type:

Article

Regulation of the PTEN promoter by statins and SREBP.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 919

By:

Teresi, Rosemary E.;
Planchon, Sarah M.;
Waite, Kristin A.;
Eng, Charis

Publication type:

Article

DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 1020, doi. 10.1093/hmg/ddm374

By:

Keating, Damien J.;
Dubach, Daphne;
Zanin, Mark P.;
Yu, Yong;
Martin, Katherine;
Zhao, Yu-Feng;
Chen, Chen;
Porta, Sílvia;
Arbonés, Maria L.;
Mittaz, Laureane;
Pritchard, Melanie A.

Publication type:

Article

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 971, doi. 10.1093/hmg/ddm369

By:

Spencer, Kylee L.;
Hauser, Michael A.;
Olson, Lana M.;
Schmidt, Silke;
Scott, William K.;
Gallins, Paul;
Agarwal, Anita;
Postel, Eric A.;
Pericak-Vance, Margaret A.;
Haines, Jonathan L.

Publication type:

Article

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 1010

By:

Moumné, Lara;
Dipietromaria, Aurélie;
Batista, Frank;
Kocer, Ayhan;
Fellous, Marc;
Pailhoux, Eric;
Veitia, Reiner A.

Publication type:

Article

Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer’s disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 929

By:

Zou, Fanggeng;
Gopalraj, Rangaraj K.;
Lok, Johann;
Zhu, Haiyan;
Ling, I-Fang;
Simpson, James F.;
Tucker, H. Michael;
Kelly, Jeremiah F.;
Younkin, Samuel G.;
Dickson, Dennis W.;
Petersen, Ronald C.;
Graff-Radford, Neill R.;
Bennett, David A.;
Crook, Julia E.;
Younkin, Steven G.;
Estus, Steven

Publication type:

Article

Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (ß4GalT-7) deficient form of Ehlers–Danlos syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 996, doi. 10.1093/hmg/ddm372

By:

Götte, Martin;
Spillmann, Dorothe;
Yip, George W.;
Versteeg, Elly;
Echtermeyer, Frank G.;
van Kuppevelt, Toin H.;
Kiesel, Ludwig

Publication type:

Article

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 986, doi. 10.1093/hmg/ddm371

By:

Gasparre, Giuseppe;
Hervouet, Eric;
de Laplanche, Elodie;
Demont, Jocelyne;
Pennisi, Lucia Fiammetta;
Colombel, Marc;
Mège-Lechevallier, Florence;
Scoazec, Jean-Yves;
Bonora, Elena;
Smeets, Roel;
Smeitink, Jan;
Lazar, Vladimir;
Lespinasse, James;
Giraud, Sophie;
Godinot, Catherine;
Romeo, Giovanni;
Simonnet, Hélène

Publication type:

Article

Association of NFKB1, which encodes a subunit of the transcription factor NF-κB, with alcohol dependence.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 963

By:

Edenberg, Howard J.;
Xuei, Xiaoling;
Wetherill, Leah Flury;
Bierut, Laura;
Bucholz, Kathleen;
Dick, Danielle M.;
Hesselbrock, Victor;
Kuperman, Sam;
Porjesz, Bernice;
Schuckit, Marc A.;
Tischfield, Jay A.;
Almasy, Laura A.;
Nurnberger, J.I.;
Foroud, Tatiana

Publication type:

Article

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 978, doi. 10.1093/hmg/ddm370

By:

Lettice, Laura A.;
Hill, Alison E.;
Devenney, Paul S.;
Hill, Robert E.

Publication type:

Article

Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 936

By:

Yan, Jincheng;
Chen, Shi;
Zhang, Yingze;
Li, Xiaohong;
Li, Yan;
Wu, Xiaohua;
Yuan, Jin;
Robling, Alexander G.;
Karpur, Reuben;
Chan, Rebecca J.;
Yang, Feng-Chun

Publication type:

Article

The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 1043

By:

Tiala, Inkeri;
Wakkinen, Janica;
Suomela, Sari;
Puolakkainen, Pauli;
Tammi, Raija;
Forsberg, Sofi;
Rollman, Ola;
Kainu, Kati;
Rozell, Björn;
Kere, Juha;
Saarialho-Kere, Ulpu;
Elomaa, Outi

Publication type:

Article