Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 15

Results: 19

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2247, doi. 10.1093/hmg/ddi229

By:

Nuber, Ulrike A.;
Kriaucionis, Skirmantas;
Roloff, Tim C.;
Guy, Jacky;
Selfridge, Jim;
Steinhoff, Christine;
Schulz, Ralph;
Lipkowitz, Bettina;
Ropers, H. Hilger;
Holmes, Megan C.;
Bird, Adrian

Publication type:

Article

Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2277, doi. 10.1093/hmg/ddi232

By:

Jeffreys, Alec J.;
Neumann, Rita

Publication type:

Article

Genetic dissection of Pax6 dosage requirements in the developing mouse eye.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2265, doi. 10.1093/hmg/ddi231

By:

Davis-Silberman, Noa;
Kalich, Tomer;
Oron-Karni, Varda;
Marquardt, Till;
Kroeber, Markus;
Tamm, Ernst R.;
Ashery-Padan, Ruth

Publication type:

Article

Meta-analysis of genome scans of age-related macular degeneration.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2257, doi. 10.1093/hmg/ddi230

By:

Fisher, Sheila A.;
Abecasis, Goncalo R.;
Yashar, Beverly M.;
Zareparsi, Sepideh;
Swaroop, Anand;
Iyengar, Sudha K.;
Klein, Barbara E.K.;
Klein, Ronald;
Lee, Kristine E.;
Majewski, Jacek;
Schultz, Dennis W.;
Klein, Michael L.;
Seddon, Johanna M.;
Santangelo, Susan L.;
Weeks, Daniel E.;
Conley, Yvette P.;
Mah, Tammy S.;
Schmidt, Silke;
Haines, Jonathan L.;
Pericak-Vance, Margaret A.

Publication type:

Article

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2231, doi. 10.1093/hmg/ddi227

By:

Pollard, P.J.;
Brière, J.J.;
Alam, N.A.;
Barwell, J.;
Barclay, E.;
Wortham, N.C.;
Hunt, T.;
Mitchell, M.;
Olpin, S.;
Moat, S.J.;
Hargreaves, I.P.;
Heales, S.J.;
Chung, Y.L.;
Griffiths, J.R.;
Dalgleish, A.;
McGrath, J.A.;
Gleeson, M.J.;
Hodgson, S.V.;
Poulsom, R.;
Rustin, P.

Publication type:

Article

The prion gene is associated with human long-term memory.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2241, doi. 10.1093/hmg/ddi228

By:

Papassotiropoulos, Andreas;
Wollmer, M. Axel;
Aguzzi, Adriano;
Hock, Christoph;
Nitsch, Roger M.;
de Quervain, Dominique J.-F.

Publication type:

Article

Small fitness effect of mutations in highly conserved non-coding regions.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2221, doi. 10.1093/hmg/ddi226

By:

Kryukov, Gregory V;
Schmidt, Steffen;
Sunyaev, Shamil

Publication type:

Article

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2209, doi. 10.1093/hmg/ddi225

By:

Mehenni, Hamid;
Lin-Marq, Nathalie;
Buchet-Poyau, Karine;
Reymond, Alexandre;
Collart, Martine A.;
Picard, Didier;
Antonarakis, Stylianos E.

Publication type:

Article

Expression of mutant human cystathionine β-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2201, doi. 10.1093/hmg/ddi224

By:

Wang, Liqun;
Chen, Xulin;
Tang, Baiqing;
Hua, Xiang;
Klein-Szanto, Andres;
Kruger, Warren D.

Publication type:

Article

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca<sup>2+</sup>-ATPase in myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2189, doi. 10.1093/hmg/ddi223

By:

Kimura, Takashi;
Nakamori, Masayuki;
Lueck, John D.;
Pouliquin, Pierre;
Aoike, Futoshi;
Fujimura, Harutoshi;
Dirksen, Robert T.;
Takahashi, Masanori P.;
Dulhunty, Angela F.;
Sakoda, Saburo

Publication type:

Article

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2181, doi. 10.1093/hmg/ddi222

By:

Roessler, Erich;
Ermilov, Alexandre N.;
Grange, Dorothy Katherine;
Wang, Aiqin;
Grachtchouk, Marina;
Dlugosz, Andrzej A.;
Muenke, Maximilian

Publication type:

Article

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2167, doi. 10.1093/hmg/ddi221

By:

Mounkes, Leslie C.;
Kozlov, Serguei V.;
Rottman, Jeffrey N.;
Stewart, Colin L.

Publication type:

Article

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2155, doi. 10.1093/hmg/ddi220

By:

Kouprina, Natalay;
Pavlicek, Adam;
Collins, N. Keith;
Nakano, Megumi;
Noskov, Vladimir N.;
Ohzeki, Jun-Ichirou;
Mochida, Ganeshwaran H.;
Risinger, John I.;
Goldsmith, Paul;
Gunsior, Michelle;
Solomon, Greg;
Gersch, William;
Kim, Jung-Hyun;
Barrett, J. Carl;
Walsh, Christopher A.;
Jurka, Jerzy;
Masumoto, Hiroshi;
Larionov, Vladimir

Publication type:

Article

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2145, doi. 10.1093/hmg/ddi219

By:

Beaumont, Kimberley A.;
Newton, Richard A.;
Smit, Darren J.;
Leonard, J. Helen;
Stow, Jennifer L.;
Sturm, Richard A.

Publication type:

Article

Interindividual variability and parent of origin DNA methylation differences at specific human Alu elements.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2135, doi. 10.1093/hmg/ddi218

By:

Sandovici, Ionel;
Kassovska-Bratinova, Sacha;
Loredo-Osti, J. Concepción;
Leppert, Mark;
Suarez, Alexander;
Stewart, Rae;
Bautista, F. Dale;
Schiraldi, Michael;
Sapienza, Carmen

Publication type:

Article

Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin–proteasome pathway.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2125, doi. 10.1093/hmg/ddi217

By:

Kramerova, Irina;
Kudryashova, Elena;
Venkatraman, Gayathri;
Spencer, Melissa J.

Publication type:

Article

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay–Sachs disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2113, doi. 10.1093/hmg/ddi216

By:

Martino, S.;
Marconi, P.;
Tancini, B.;
Dolcetta, D.;
De Angelis, M.G. Cusella;
Montanucci, P.;
Bregola, G.;
Sandhoff, K.;
Bordignon, C.;
Emiliani, C.;
Manservigi, R.;
Orlacchio, A.

Publication type:

Article

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2099, doi. 10.1093/hmg/ddi215

By:

Strauss, Karsten M.;
Martins, L. Miguel;
Plun-Favreau, Helene;
Marx, Frank P.;
Kautzmann, Sabine;
Berg, Daniela;
Gasser, Thomas;
Wszolek, Zbginiew;
Müller, Thomas;
Bornemann, Antje;
Wolburg, Hartwig;
Downward, Julian;
Riess, Olaf;
Schulz, Jörg B.;
Krüger, Rejko

Publication type:

Article

Frataxin interacts functionally with mitochondrial electron transport chain proteins.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2091, doi. 10.1093/hmg/ddi214

By:

González-Cabo, Pilar;
Vázquez-Manrique, Rafael P.;
García-Gimeno, M. Adelaida;
Sanz, Pascual;
Palau, Francesc

Publication type:

Article