Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 9

Results: 24

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1741, doi. 10.1093/hmg/ddq050

By:

Custer, Sara K.;
Neumann, Manuela;
Lu, Hongbo;
Wright, Alexander C.;
Taylor, J. Paul

Publication type:

Article

Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1846, doi. 10.1093/hmg/ddq056

By:

Sun, Qi;
Cornelis, Marilyn C.;
Kraft, Peter;
Qi, Lu;
van Dam, Rob M.;
Girman, Cynthia J.;
Laurie, Cathy C.;
Mirel, Daniel B.;
Gong, Huizi;
Sheu, Chau-Chyun;
Christiani, David C.;
Hunter, David J.;
Mantzoros, Christos S.;
Hu, Frank B.

Publication type:

Article

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1726, doi. 10.1093/hmg/ddq049

By:

Müller, Juliane S.;
Jepson, Catherine D.;
Laval, Steven H.;
Bushby, Kate;
Straub, Volker;
Lochmüller, Hanns

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq117
Publication type:: Article

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1840, doi. 10.1093/hmg/ddq044

By:

Crowther-Swanepoel, Dalemari;
Broderick, Peter;
Ma, Yussanne;
Robertson, Lindsay;
Pittman, Alan M.;
Price, Amy;
Twiss, Philip;
Vijayakrishnan, Jayaram;
Qureshi, Mobshra;
Dyer, Martin J. S.;
Matutes, Estella;
Dearden, Claire;
Catovsky, Daniel;
Houlston, Richard S.

Publication type:

Article

Increased EFG- and PDGFα-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1678, doi. 10.1093/hmg/ddq045

By:

Miraoui, Hichem;
Ringe, Jochen;
Häupl, Thomas;
Marie, Pierre J.

Publication type:

Article

AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1791, doi. 10.1093/hmg/ddq060

By:

Bassett, Erin A.;
Williams, Trevor;
Zacharias, Amanda L.;
Gage, Philip J.;
Fuhrmann, Sabine;
West-Mays, Judith A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq121
Publication type:: Article

Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1651, doi. 10.1093/hmg/ddq042

By:

Royer-Pokora, Brigitte;
Busch, Maike;
Beier, Manfred;
Duhme, Constanze;
de Torres, Carmen;
Mora, Jaume;
Brandt, Artur;
Royer, Hans-Dieter

Publication type:

Article

Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1712, doi. 10.1093/hmg/ddq048

By:

Goodier, John L.;
Mandal, Prabhat K.;
Zhang, Lili;
Kazazian, Haig H.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq119
Publication type:: Article

CalDAG-GEFI down-regulation in the striatum as a neuroprotective change in Huntington's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1756, doi. 10.1093/hmg/ddq055

By:

Crittenden, Jill R.;
Dunn, Denise E.;
Merali, Farhan I.;
Woodman, Ben;
Yim, Michael;
Borkowska, Anna E.;
Frosch, Matthew P.;
Bates, Gillian P.;
Housman, David E.;
Lo, Donald C.;
Graybiel, Ann M.

Publication type:

Article

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1816, doi. 10.1093/hmg/ddq040

By:

Behar, Doron M.;
Rosset, Saharon;
Tzur, Shay;
Selig, Sara;
Yudkovsky, Guennady;
Bercovici, Sivan;
Kopp, Jeffrey B.;
Winkler, Cheryl A.;
Nelson, George W.;
Wasser, Walter G.;
Skorecki, Karl

Publication type:

Article

ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1690, doi. 10.1093/hmg/ddq046

By:

Despras, Emmanuelle;
Daboussi, Fayza;
Hyrien, Olivier;
Marheineke, Kathrin;
Kannouche, Patricia L.

Publication type:

Article

Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1856, doi. 10.1093/hmg/ddq057

By:

Qi, Lu;
Cornelis, Marilyn C.;
Kraft, Peter;
Jensen, Majken;
van Dam, Rob M.;
Sun, Qi;
Girman, Cynthia J.;
Laurie, Cathy C.;
Mirel, Daniel B.;
Hunter, David J.;
Rimm, Eric;
Hu, Frank B.

Publication type:

Article

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1828, doi. 10.1093/hmg/ddq041

By:

Prescott, Natalie J.;
Dominy, Katherine M.;
Kubo, Michiaki;
Lewis, Cathryn M.;
Fisher, Sheila A.;
Redon, Richard;
Huang, Ni;
Stranger, Barbara E.;
Blaszczyk, Katarzyna;
Hudspith, Barry;
Parkes, Gareth;
Hosono, Naoya;
Yamazaki, Keiko;
Onnie, Clive M.;
Forbes, Alastair;
Dermitzakis, Emmanouil T.;
Nakamura, Yusuke;
Mansfield, John C.;
Sanderson, Jeremy;
Hurles, Matthew E.

Publication type:

Article

Modulation of imprinted gene network in placenta results in normal development of in vitro manipulated mouse embryos.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1779, doi. 10.1093/hmg/ddq059

By:

Fauque, Patricia;
Ripoche, Marie-Anne;
Tost, Jörg;
Journot, Laurent;
Gabory, Anne;
Busato, Florence;
Le Digarcher, Anne;
Mondon, Françoise;
Gut, Ivo;
Jouannet, Pierre;
Vaiman, Daniel;
Dandolo, Luisa;
Jammes, Hélène

Publication type:

Article

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1669, doi. 10.1093/hmg/ddq043

By:

Bartesaghi, Stefano;
Betts-Henderson, Joanne;
Cain, Kelvin;
Dinsdale, David;
Zhou, Xiaoshan;
Karlsson, Anna;
Salomoni, Paolo;
Nicotera, Pierluigi

Publication type:

Article

Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1805, doi. 10.1093/hmg/ddq039

By:

Nelson, George W.;
Freedman, Barry I.;
Bowden, Donald W.;
Langefeld, Carl D.;
An, Ping;
Hicks, Pamela J.;
Bostrom, Meredith A.;
Johnson, Randall C.;
Kopp, Jeffrey B.;
Winkler, Cheryl A.

Publication type:

Article

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1702, doi. 10.1093/hmg/ddq047

By:

Yu, Y. Eugene;
Wen, Lei;
Silva, Jeane;
Li, Zhongyou;
Head, Karen;
Sossey-Alaoui, Khalid;
Pao, Annie;
Mei, Lin;
Cowell, John K.

Publication type:

Article

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated α-synuclein gene mutations precede central nervous system changes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1633, doi. 10.1093/hmg/ddq038

By:

Kuo, Yien-Ming;
Li, Zhishan;
Jiao, Yun;
Gaborit, Nathalie;
Pani, Amar K.;
Orrison, Bonnie M.;
Bruneau, Benoit G.;
Giasson, Benoit I.;
Smeyne, Richard J.;
Gershon, Michael D.;
Nussbaum, Robert L.

Publication type:

Article

Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1863, doi. 10.1093/hmg/ddq061

By:

Barbalic, Maja;
Dupuis, Josée;
Dehghan, Abbas;
Bis, Joshua C.;
Hoogeveen, Ron C.;
Schnabel, Renate B.;
Nambi, Vijay;
Bretler, Monique;
Smith, Nicholas L.;
Peters, Annette;
Lu, Chen;
Tracy, Russell P.;
Aleksic, Nena;
Heeriga, Jan;
Keaney, John F.;
Rice, Kenneth;
Lip, Gregory Y.H.;
Vasan, Ramachandran S.;
Glazer, Nicole L.;
Larson, Martin G.

Publication type:

Article

Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy†.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1766, doi. 10.1093/hmg/ddq058

By:

Wen, Hsin-Lan;
Lin, Yuan-Ta;
Ting, Chen-Hung;
Lin-Chao, Sue;
Li, Hung;
Hsieh-Li, Hsiu Mei

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq115
Publication type:: Article