Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 18

Results: 23

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3491, doi. 10.1093/hmg/ddq265

By:

Zentner, Gabriel E.;
Hurd, Elizabeth A.;
Schnetz, Michael P.;
Handoko, Lusy;
Wang, Chuanping;
Wang, Zhenghe;
Wei, Chialin;
Tesar, Paul J.;
Hatzoglou, Maria;
Martin, Donna M.;
Scacheri, Peter C.

Publication type:

Article

Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3662, doi. 10.1093/hmg/ddq274

By:

Melton, Phillip E.;
Rutherford, Sue;
Voruganti, Venkata Saroja;
Göring, Harald H.H.;
Laston, Sandra;
Haack, Karin;
Comuzzie, Anthony G.;
Dyer, Thomas D.;
Johnson, Matthew P.;
Kent, Jack W.;
Curran, Joanne E.;
Moses, Eric K.;
Blangero, John;
Barac, Ana;
Lee, Elisa T.;
Best, Lyle G.;
Fabsitz, Richard R.;
Devereux, Richard B.;
Okin, Peter M.;
Bella, Jonathan N.

Publication type:

Article

Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3652, doi. 10.1093/hmg/ddq268

By:

Hansen, Helen M.;
Xiao, Yuanyuan;
Rice, Terri;
Bracci, Paige M.;
Wrensch, Margaret R.;
Sison, Jennette D.;
Chang, Jeffery S.;
Smirnov, Ivan V.;
Patoka, Joseph;
Seldin, Michael F.;
Quesenberry, Charles P.;
Kelsey, Karl T.;
Wiencke, John K.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq318
Publication type:: Article

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3623, doi. 10.1093/hmg/ddq278

By:

Lübbehusen, Jürgen;
Thiel, Christian;
Rind, Nina;
Ungar, Daniel;
Prinsen, Berthil H.C.M.T.;
de Koning, Tom J.;
van Hasselt, Peter M.;
Körner, Christian

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq319
Publication type:: Article

Parent-of-origin effects at the major histocompatibility complex in multiple sclerosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3679, doi. 10.1093/hmg/ddq282

By:

Chao, Michael J.;
Herrera, Blanca M.;
Ramagopalan, Sreeram V.;
Deluca, Gabriel;
Handunetthi, Lahiru;
Orton, Sarah M.;
Lincoln, Matthew R.;
Sadovnick, A. Dessa;
Ebers, George C.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq320
Publication type:: Article

Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot–Marie–Tooth 1X.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3530, doi. 10.1093/hmg/ddq269

By:

Groh, Janos;
Heinl, Kristina;
Kohl, Bianca;
Wessig, Carsten;
Greeske, Juliane;
Fischer, Stefan;
Martini, Rudolf

Publication type:

Article

Genome-wide association of serum bilirubin levels in Korean population.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3672, doi. 10.1093/hmg/ddq281

By:

Kang, Tae-Wook;
Kim, Hee-Jin;
Ju, Hyoungseok;
Kim, Jeong-Hwan;
Jeon, Yeo-Jin;
Lee, Han-Chul;
Kim, Ka-Kyung;
Kim, Jong-Won;
Lee, Siwoo;
Kim, Jong Yeol;
Kim, Seon-Young;
Kim, Yong Sung

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq321
Publication type:: Article

KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3642, doi. 10.1093/hmg/ddq280

By:

Alves, Maria M.;
Burzynski, Grzegorz;
Delalande, Jean-Marie;
Osinga, Jan;
van der Goot, Annemieke;
Dolga, Amalia M.;
de Graaff, Esther;
Brooks, Alice S.;
Metzger, Marco;
Eisel, Ulrich L.M.;
Shepherd, Iain;
Eggen, Bart J.L.;
Hofstra, Robert M.W.

Publication type:

Article

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3591, doi. 10.1093/hmg/ddq275

By:

Murga-Zamalloa, Carlos A.;
Atkins, Stephen J.;
Peranen, Johan;
Swaroop, Anand;
Khanna, Hemant

Publication type:

Article

Common body mass index-associated variants confer risk of extreme obesity.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3690

By:

Cotsapas, Chris;
Speliotes, Elizabeth K.;
Hatoum, Ida J.;
Greenawalt, Danielle M.;
Dobrin, Radu;
Lum, Pek Y.;
Suver, Christine;
Chudin, Eugene;
Kemp, Daniel;
Reitman, Marc;
Voight, Benjamin F.;
Neale, Benjamin M.;
Schadt, Eric E.;
Hirschhorn, Joel N.;
Kaplan, Lee M.;
Daly, Mark J.

Publication type:

Article

Biochemical and functional interaction between ZNF224 and ZNF255, two members of the Krüppel-like zinc-finger protein family and WT1 protein isoforms.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3544, doi. 10.1093/hmg/ddq270

By:

Florio, Francesca;
Cesaro, Elena;
Montano, Giorgia;
Izzo, Paola;
Miles, Colin;
Costanzo, Paola

Publication type:

Article

The primate-specific microRNA gene cluster (C19MC) is imprinted in the placenta.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3566, doi. 10.1093/hmg/ddq272

By:

Noguer-Dance, Marie;
Abu-Amero, Sayeda;
Al-Khtib, Mohamed;
Lefèvre, Annick;
Coullin, Philippe;
Moore, Gudrun E.;
Cavaillé, Jérôme

Publication type:

Article

β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3634, doi. 10.1093/hmg/ddq279

By:

Clarkson, Yvonne L.;
Gillespie, Trudi;
Perkins, Emma M.;
Lyndon, Alastair R.;
Jackson, Mandy

Publication type:

Article

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3583, doi. 10.1093/hmg/ddq273

By:

Vitner, Einat B.;
Dekel, Hani;
Zigdon, Hila;
Shachar, Tamar;
Farfel-Becker, Tamar;
Eilam, Raya;
Karlsson, Stefan;
Futerman, Anthony H.

Publication type:

Article

A cluster of pathogenic mutations in the 3′–5′ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3516, doi. 10.1093/hmg/ddq267

By:

Szczepanowska, Karolina;
Foury, Françoise

Publication type:

Article

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3614, doi. 10.1093/hmg/ddq277

By:

Ward, Amanda J.;
Rimer, Mendell;
Killian, James M.;
Dowling, James J.;
Cooper, Thomas A.

Publication type:

Article

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3557, doi. 10.1093/hmg/ddq271

By:

Bahloul, Amel;
Michel, Vincent;
Hardelin, Jean-Pierre;
Nouaille, Sylvie;
Hoos, Sylviane;
Houdusse, Anne;
England, Patrick;
Petit, Christine

Publication type:

Article

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3599, doi. 10.1093/hmg/ddq276

By:

Tian, Guoling;
Jaglin, Xavier H.;
Keays, David A.;
Francis, Fiona;
Chelly, Jamel;
Cowan, Nicholas J.

Publication type:

Article

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3502, doi. 10.1093/hmg/ddq266

By:

Chen, Pan;
Burdette, Alexander J.;
Porter, J. Christopher;
Ricketts, John C.;
Fox, Stacey A.;
Nery, Flavia C.;
Hewett, Jeffrey W.;
Berkowitz, Laura A.;
Breakefield, Xandra O.;
Caldwell, Kim A.;
Caldwell, Guy A.

Publication type:

Article