Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 10

Results: 14

Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1363, doi. 10.1093/hmg/ddn024

By:

Dimaras, Helen;
Khetan, Vikas;
Halliday, William;
Orlic, Marija;
Prigoda, Nadia L.;
Piovesan, Beata;
Marrano, Paula;
Corson, Timothy W.;
Eagle, Ralph C.;
Squire, Jeremy A.;
Gallie, Brenda L.

Publication type:

Article

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5′ UTR of GDF5 with osteoarthritis susceptibility.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1497, doi. 10.1093/hmg/ddn038

By:

Chapman, Kay;
Takahashi, Atsushi;
Meulenbelt, Ingrid;
Watson, Chris;
Rodriguez-Lopez, Julio;
Egli, Rainer;
Tsezou, Aspasia;
Malizos, Konstantinos N.;
Kloppenburg, Margreet;
Shi, Dongquan;
Southam, Lorraine;
van der Breggen, Ruud;
Donn, Rachelle;
Qin, Jianghui;
Doherty, Michael;
Slagboom, P. Eline;
Wallis, Gillian;
Kamatani, Naoyuki;
Jiang, Qing;
Gonzalez, Antonio

Publication type:

Article

Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1446, doi. 10.1093/hmg/ddn033

By:

Benchoua, Alexandra;
Trioulier, Yaël;
Diguet, Elsa;
Malgorn, Carole;
Gaillard, Marie-Claude;
Dufour, Noelle;
Elalouf, Jean-Marc;
Krajewski, Stan;
Hantraye, Philippe;
Déglon, Nicole;
Brouillet, Emmanuel

Publication type:

Article

Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1457, doi. 10.1093/hmg/ddn034

By:

Palles, Claire;
Johnson, Nichola;
Coupland, Ben;
Taylor, Claire;
Carvajal, Jaime;
Holly, Jeff;
Fentiman, Ian S.;
dos Santos Silva, Isabel;
Ashworth, Alan;
Peto, Julian;
Fletcher, Olivia

Publication type:

Article

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1436, doi. 10.1093/hmg/ddn032

By:

Hewett, Jeffrey W.;
Nery, Flávia C.;
Niland, Brian;
Ge, Pei;
Tan, Pamela;
Hadwiger, Philipp;
Tannous, Bakhos A.;
Sah, Dinah W.Y.;
Breakefield, Xandra O.

Publication type:

Article

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1406, doi. 10.1093/hmg/ddn028

By:

Lyly, Annina;
Marjavaara, Sanna K.;
Kyttälä, Aija;
Uusi-Rauva, Kristiina;
Luiro, Kaisu;
Kopra, Outi;
Martinez, Laurent O.;
Tanhuanpää, Kimmo;
Kalkkinen, Nisse;
Suomalainen, Anu;
Jauhiainen, Matti;
Jalanko, Anu

Publication type:

Article

Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1418, doi. 10.1093/hmg/ddn030

By:

Dufour, Eric;
Terzioglu, Mügen;
Sterky, Fredrik Hansson;
Sörensen, Lene;
Galter, Dagmar;
Olson, Lars;
Wilbertz, Johannes;
Larsson, Nils-Göran

Publication type:

Article

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1349, doi. 10.1093/hmg/ddn023

By:

Chen-Plotkin, Alice S.;
Geser, Felix;
Plotkin, Joshua B.;
Clark, Chris M.;
Kwong, Linda K.;
Yuan, Wuxing;
Grossman, Murray;
Van Deerlin, Vivianna M.;
Trojanowski, John Q.;
Lee, Virginia M.-Y.

Publication type:

Article

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1397, doi. 10.1093/hmg/ddn027

By:

Reamon-Buettner, Stella Marie;
Ciribilli, Yari;
Inga, Alberto;
Borlak, Juergen

Publication type:

Article

Aberrant molecular properties shared by familial Parkinson’s disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1482, doi. 10.1093/hmg/ddn037

By:

Kabuta, Tomohiro;
Setsuie, Rieko;
Mitsui, Takeshi;
Kinugawa, Aiko;
Sakurai, Mikako;
Aoki, Shunsuke;
Uchida, Kenko;
Wada, Keiji

Publication type:

Article

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1465, doi. 10.1093/hmg/ddn035

By:

Lastres-Becker, Isabel;
Brodesser, Susanne;
Lütjohann, Dieter;
Azizov, Mekhman;
Buchmann, Jana;
Hintermann, Edith;
Sandhoff, Konrad;
Schürmann, Annette;
Nowock, Joachim;
Auburger, Georg

Publication type:

Article

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1427, doi. 10.1093/hmg/ddn031

By:

Cerrato, Flavia;
Sparago, Angela;
Verde, Gaetano;
De Crescenzo, Agostina;
Citro, Valentina;
Cubellis, Maria Vittoria;
Rinaldi, Maria Michela;
Boccuto, Luigi;
Neri, Giovanni;
Magnani, Cinzia;
D'Angelo, Paolo;
Collini, Paola;
Perotti, Daniela;
Sebastio, Gianfranco;
Maher, Eamonn R.;
Riccio, Andrea

Publication type:

Article

Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1373, doi. 10.1093/hmg/ddn025

By:

Witan, Heidrun;
Kern, Andreas;
Koziollek-Drechsler, Ingrid;
Wade, Rebecca;
Behl, Christian;
Clement, Albrecht M.

Publication type:

Article

Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 10, p. 1386, doi. 10.1093/hmg/ddn026

By:

Jugloff, Denis G.M.;
Vandamme, Katrina;
Logan, Richard;
Visanji, Naomi P.;
Brotchie, Jonathan M.;
Eubanks, James H.

Publication type:

Article