Human Molecular Genetics

ARTICLES:

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

Frataxin interacts functionally with mitochondrial electron transport chain proteins
Human Molecular Genetics Advance Access published on June 16, 2005
Hum. Mol. Genet. 2005 14: 2091-2098; doi:10.1093/hmg/ddi214 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
Human Molecular Genetics Advance Access published on June 16, 2005
Hum. Mol. Genet. 2005 14: 2099-2111; doi:10.1093/hmg/ddi215 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay–Sachs disease
Human Molecular Genetics Advance Access published on June 16, 2005
Hum. Mol. Genet. 2005 14: 2113-2123; doi:10.1093/hmg/ddi216 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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

Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin–proteasome pathway
Human Molecular Genetics Advance Access published on June 16, 2005
Hum. Mol. Genet. 2005 14: 2125-2134; doi:10.1093/hmg/ddi217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Interindividual variability and parent of origin DNA methylation differences at specific human Alu elements
Human Molecular Genetics Advance Access published on June 22, 2005
Hum. Mol. Genet. 2005 14: 2135-2143; doi:10.1093/hmg/ddi218 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
Human Molecular Genetics Advance Access published on June 22, 2005
Hum. Mol. Genet. 2005 14: 2145-2154; doi:10.1093/hmg/ddi219 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein
Human Molecular Genetics Advance Access published on June 22, 2005
Hum. Mol. Genet. 2005 14: 2155-2165; doi:10.1093/hmg/ddi220 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice
Human Molecular Genetics Advance Access published on June 22, 2005
Hum. Mol. Genet. 2005 14: 2167-2180; doi:10.1093/hmg/ddi221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2
Human Molecular Genetics Advance Access published on June 30, 2005
Hum. Mol. Genet. 2005 14: 2181-2188; doi:10.1093/hmg/ddi222 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca²⁺-ATPase in myotonic dystrophy type 1
Human Molecular Genetics Advance Access published on June 22, 2005
Hum. Mol. Genet. 2005 14: 2189-2200; doi:10.1093/hmg/ddi223 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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

Expression of mutant human cystathionine ß-synthase rescues neonatal lethality but not homocystinuria in a mouse model
Human Molecular Genetics Advance Access published on June 22, 2005
Hum. Mol. Genet. 2005 14: 2201-2208; doi:10.1093/hmg/ddi224 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes
Human Molecular Genetics Advance Access published on June 29, 2005
Hum. Mol. Genet. 2005 14: 2209-2219; doi:10.1093/hmg/ddi225 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gregory V Kryukov, Steffen Schmidt, and Shamil Sunyaev

Small fitness effect of mutations in highly conserved non-coding regions
Human Molecular Genetics Advance Access published on June 30, 2005
Hum. Mol. Genet. 2005 14: 2221-2229; doi:10.1093/hmg/ddi226 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Accumulation of Krebs cycle intermediates and over-expression of HIF1 in tumours which result from germline FH and SDH mutations
Human Molecular Genetics Advance Access published on June 29, 2005
Hum. Mol. Genet. 2005 14: 2231-2239; doi:10.1093/hmg/ddi227 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

The prion gene is associated with human long-term memory
Human Molecular Genetics Advance Access published on June 29, 2005
Hum. Mol. Genet. 2005 14: 2241-2246; doi:10.1093/hmg/ddi228 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
Human Molecular Genetics Advance Access published on July 7, 2005
Hum. Mol. Genet. 2005 14: 2247-2256; doi:10.1093/hmg/ddi229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sheila A. Fisher, Goncalo R. Abecasis, Beverly M. Yashar, Sepideh Zareparsi, Anand Swaroop, Sudha K. Iyengar, Barbara E.K. Klein, Ronald Klein, Kristine E. Lee, Jacek Majewski, Dennis W. Schultz, Michael L. Klein, Johanna M. Seddon, Susan L. Santangelo, Daniel E. Weeks, Yvette P. Conley, Tammy S. Mah, Silke Schmidt, Jonathan L. Haines, Margaret A. Pericak-Vance, Michael B. Gorin, Heidi L. Schulz, Fabio Pardi, Cathryn M. Lewis, and Bernhard H.F. Weber

Meta-analysis of genome scans of age-related macular degeneration
Human Molecular Genetics Advance Access published on June 29, 2005
Hum. Mol. Genet. 2005 14: 2257-2264; doi:10.1093/hmg/ddi230 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Genetic dissection of Pax6 dosage requirements in the developing mouse eye
Human Molecular Genetics Advance Access published on June 29, 2005
Hum. Mol. Genet. 2005 14: 2265-2276; doi:10.1093/hmg/ddi231 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Alec J. Jeffreys and Rita Neumann

Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot
Human Molecular Genetics Advance Access published on June 29, 2005
Hum. Mol. Genet. 2005 14: 2277-2287; doi:10.1093/hmg/ddi232 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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