Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 17

Results: 22

Increased energy metabolism rescues glia-induced pathology in a Drosophila model of Huntington's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3372, doi. 10.1093/hmg/ddq249

By:

Besson, Marie-Thérèse;
Dupont, Pascale;
Fridell, Yih-Woei C.;
Liévens, Jean-Charles

Publication type:

Article

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3489, doi. 10.1093/hmg/ddq256

By:

Simon, Delphine;
Laloo, Benoit;
Barillot, Malika;
Barnetche, Thomas;
Blanchard, Camille;
Rooryck, Caroline;
Marche, Michèle;
Burgelin, Ingrid;
Coupry, Isabelle;
Chassaing, Nicolas;
Gilbert-Dussardier, Brigitte;
Lacombe, Didier;
Grosset, Christophe;
Arveiler, Benoit

Publication type:

Article

Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left–right patterning defects.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3394, doi. 10.1093/hmg/ddq251

By:

Bentham, Jamie;
Michell, Anna C.;
Lockstone, Helen;
Andrew, Daniel;
Schneider, Jürgen E.;
Brown, Nigel A.;
Bhattacharya, Shoumo

Publication type:

Article

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3383, doi. 10.1093/hmg/ddq250

By:

Scott, Stuart A.;
Cohen, Ninette;
Brandt, Tracy;
Warburton, Peter E.;
Edelmann, Lisa

Publication type:

Article

Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3468

By:

McGovern, Dermot P.B.;
Jones, Michelle R.;
Taylor, Kent D.;
Marciante, Kristin;
Yan, Xiaofei;
Dubinsky, Marla;
Ippoliti, Andy;
Vasiliauskas, Eric;
Berel, Dror;
Derkowski, Carrie;
Dutridge, Deb;
Fleshner, Phil;
Shih, David Q.;
Melmed, Gil;
Mengesha, Emebet;
King, Lily;
Pressman, Sheila;
Haritunians, Talin;
Guo, Xiuqing;
Targan, Stephan R.

Publication type:

Article

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3482, doi. 10.1093/hmg/ddq264

By:

Fransen, Karin;
Visschedijk, Marijn C.;
van Sommeren, Suzanne;
Fu, Jinyuan Y.;
Franke, Lude;
Festen, Eleonora A.M.;
Stokkers, Pieter C.F.;
van Bodegraven, Adriaan A.;
Crusius, J. Bart A.;
Hommes, Daniel W.;
Zanen, Pieter;
de Jong, Dirk J.;
Wijmenga, Cisca;
van Diemen, Cleo C.;
Weersma, Rinse K.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 17, p. NP, doi. 10.1093/hmg/ddq296
Publication type:: Article

Mitochondrial calcium uptake capacity as a therapeutic target in the R6/2 mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3354, doi. 10.1093/hmg/ddq247

By:

Perry, Giselle M.;
Tallaksen-Greene, Sara;
Kumar, Ashish;
Heng, Mary Y.;
Kneynsberg, Andrew;
van Groen, Thomas;
Detloff, Peter J.;
Albin, Roger L.;
Lesort, Mathieu

Publication type:

Article

Gli3Xt−J/Xt−J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3457, doi. 10.1093/hmg/ddq258

By:

Rice, David P.C.;
Connor, Elaine C.;
Veltmaat, Jacqueline M.;
Lana-Elola, Eva;
Veistinen, Lotta;
Tanimoto, Yukiho;
Bellusci, Saverio;
Rice, Ritva

Publication type:

Article

Penetrance for copy number variants associated with schizophrenia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3477, doi. 10.1093/hmg/ddq259

By:

Vassos, Evangelos;
Collier, David A.;
Holden, Simon;
Patch, Christine;
Rujescu, Dan;
St Clair, David;
Lewis, Cathryn M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 17, p. NP, doi. 10.1093/hmg/ddq294
Publication type:: Article

Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3306, doi. 10.1093/hmg/ddq233

By:

Zhang, Jingjing;
Wu, Maoqing;
Wang, Shixuan;
Shah, Jagesh V.;
Wilson, Patricia D.;
Zhou, Jing

Publication type:

Article

The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS).

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3440, doi. 10.1093/hmg/ddq257

By:

Crippa, Valeria;
Sau, Daniela;
Rusmini, Paola;
Boncoraglio, Alessandra;
Onesto, Elisa;
Bolzoni, Elena;
Galbiati, Mariarita;
Fontana, Elena;
Marino, Marianna;
Carra, Serena;
Bendotti, Caterina;
De Biasi, Silvia;
Poletti, Angelo

Publication type:

Article

Clorgyline-mediated reversal of neurological deficits in a Complexin 2 knockout mouse.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3402, doi. 10.1093/hmg/ddq252

By:

Glynn, Dervila;
Gibson, Helen E.;
Harte, Michael K.;
Reim, Kerstin;
Jones, Susan;
Reynolds, Gavin P.;
Morton, A. Jennifer

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 17, p. NP, doi. 10.1093/hmg/ddq295
Publication type:: Article

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3343

By:

Gómez-Durán, Aurora;
Pacheu-Grau, David;
López-Gallardo, Ester;
Díez-Sánchez, Carmen;
Montoya, Julio;
López-Pérez, Manuel J.;
Ruiz-Pesini, Eduardo

Publication type:

Article

Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3332, doi. 10.1093/hmg/ddq237

By:

Kroeber, Markus;
Davis, Noa;
Holzmann, Silvia;
Kritzenberger, Michaela;
Shelah-Goraly, Michal;
Ofri, Ron;
Ashery-Padan, Ruth;
Tamm, Ernst R.

Publication type:

Article

Contribution of human amniotic fluid stem cells to renal tissue formation depends on mTOR.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3320, doi. 10.1093/hmg/ddq236

By:

Siegel, Nicol;
Rosner, Margit;
Unbekandt, Mathieu;
Fuchs, Christiane;
Slabina, Nina;
Dolznig, Helmut;
Davies, Jamie A.;
Lubec, Gert;
Hengstschläger, Markus

Publication type:

Article

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 ε subunit.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3430, doi. 10.1093/hmg/ddq254

By:

Mayr, Johannes A.;
Havlíčková, Vendula;
Zimmermann, Franz;
Magler, Iris;
Kaplanová, Vilma;
Ješina, Pavel;
Pecinová, Alena;
Nůsková, Hana;
Koch, Johannes;
Sperl, Wolfgang;
Houštěk, Josef

Publication type:

Article

Antioxidants can inhibit basal autophagy and enhance neurodegeneration in models of polyglutamine disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3413, doi. 10.1093/hmg/ddq253

By:

Underwood, Benjamin R.;
Imarisio, Sara;
Fleming, Angeleen;
Rose, Claudia;
Krishna, Gauri;
Heard, Phoebe;
Quick, Marie;
Korolchuk, Viktor I.;
Renna, Maurizio;
Sarkar, Sovan;
García-Arencibia, Moisés;
O'Kane, Cahir J.;
Murphy, Michael P.;
Rubinsztein, David C.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 17, p. NP, doi. 10.1093/hmg/ddq297
Publication type:: Article

Leena Peltonen-Palotie: the human side of genetics.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 17, p. 3303, doi. 10.1093/hmg/ddq255

By:

Freimer, Nelson;
McCarthy, Mark;
Schork, Nicholas

Publication type:

Article