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

Results: 19

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
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
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
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
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
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