Human Molecular Genetics

ARTICLES:

Tomi Pastinen, Markus Perola, Jaakko Ignatius, Chiara Sabatti, Päivi Tainola, Minna Levander, Ann-Christine Syvänen, and Leena Peltonen

Dissecting a population genome for targeted screening of disease mutations
Hum. Mol. Genet. 2001 10: 2961-2972; doi:10.1093/hmg/10.26.2961 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anand K. Srivastava, Meredith C. Durmowicz, Andrew J. Hartung, Joan Hudson, Lizbeth V. Ouzts, David M. Donovan, Chang-Yi Cui, and David Schlessinger

Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice
Hum. Mol. Genet. 2001 10: 2973-2981; doi:10.1093/hmg/10.26.2973 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Sheila C. Barton, Katharine L. Arney, Wei Shi, Alain Niveleau, Reinald Fundele, M. Azim Surani, and Thomas Haaf

Genome-wide methylation patterns in normal and uniparental early mouse embryos
Hum. Mol. Genet. 2001 10: 2983-2987; doi:10.1093/hmg/10.26.2983 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rosanna Weksberg, Joy Nishikawa, Oana Caluseriu, Yan-Ling Fei, Cheryl Shuman, Cuihong Wei, Leslie Steele, Jessie Cameron, Adam Smith, Ingrid Ambus, Madeline Li, Peter N. Ray, Paul Sadowski, and Jeremy Squire

Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
Hum. Mol. Genet. 2001 10: 2989-3000; doi:10.1093/hmg/10.26.2989 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Manel Esteller, Mario F. Fraga, Mingzhou Guo, Jesus Garcia-Foncillas, Ingrid Hedenfalk, Andrew K. Godwin, Joerg Trojan, Catherine Vaurs-Barrière, Yves-Jean Bignon, Susan Ramus, Javier Benitez, Trinidad Caldes, Yoshimitsu Akiyama, Yusuhito Yuasa, Virpi Launonen, Maria Jesus Canal, Roberto Rodriguez, Gabriel Capella, Miguel Angel Peinado, Ake Borg, Lauri A. Aaltonen, Bruce A. Ponder, Stephen B. Baylin, and James G. Herman

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis
Hum. Mol. Genet. 2001 10: 3001-3007; doi:10.1093/hmg/10.26.3001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David H. Gutmann, Yan Li Wu, Nicolé M. Hedrick, Yuan Zhu, Abhijit Guha, and Luis F. Parada

Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes
Hum. Mol. Genet. 2001 10: 3009-3016; doi:10.1093/hmg/10.26.3009 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christian Netzer, Leonie Rieger, Alessandro Brero, Chang-Dong Zhang, Markus Hinzke, Jürgen Kohlhase, and Stefan K. Bohlander

SALL1, the gene mutated in Townes–Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin
Hum. Mol. Genet. 2001 10: 3017-3024; doi:10.1093/hmg/10.26.3017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michaela Jaksch, Claudia Paret, Rolf Stucka, Nina Horn, Josef Müller-Höcker, Rita Horvath, Nadine Trepesch, Gerhard Stecker, Peter Freisinger, Christian Thirion, Juliane Müller, Renate Lunkwitz, Gerhard Rödel, Eric A. Shoubridge, and Hanns Lochmüller

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
Hum. Mol. Genet. 2001 10: 3025-3035; doi:10.1093/hmg/10.26.3025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tiina Paunio, Jesper Ekelund, Teppo Varilo, Alex Parker, Iiris Hovatta, Joni A. Turunen, Kate Rinard, Alessandro Foti, Joseph D. Terwilliger, Hannu Juvonen, Jaana Suvisaari, Ritva Arajärvi, Jaana Suokas, Timo Partonen, Jouko Lönnqvist, Joanne Meyer, and Leena Peltonen

Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q
Hum. Mol. Genet. 2001 10: 3037-3048; doi:10.1093/hmg/10.26.3037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jingtong Gao, Lourdes Estrada, Soochin Cho, Ronald E. Ellis, and Jerome L. Gorski

The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis
Hum. Mol. Genet. 2001 10: 3049-3062; doi:10.1093/hmg/10.26.3049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

William J. Welch and Marc I. Diamond

Glucocorticoid modulation of androgen receptor nuclear aggregation and cellular toxicity is associated with distinct forms of soluble expanded polyglutamine protein
Hum. Mol. Genet. 2001 10: 3063-3074; doi:10.1093/hmg/10.26.3063 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alberto Auricchio, Gary Kobinger, Vibha Anand, Markus Hildinger, Erin O'Connor, Albert M. Maguire, James M. Wilson, and Jean Bennett

Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model
Hum. Mol. Genet. 2001 10: 3075-3081; doi:10.1093/hmg/10.26.3075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ercole Rao, Rüdiger J. Blaschke, Antonio Marchini, Beate Niesler, Michael Burnett, and Gudrun A. Rappold

The Leri–Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator
Hum. Mol. Genet. 2001 10: 3083-3091; doi:10.1093/hmg/10.26.3083 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sarika Srivastava and Carlos T. Moraes

Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease
Hum. Mol. Genet. 2001 10: 3093-3099; doi:10.1093/hmg/10.26.3093 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ornit Chiba-Falek and Robert L. Nussbaum

Effect of allelic variation at the NACP–Rep1 repeat upstream of the -synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system
Hum. Mol. Genet. 2001 10: 3101-3109; doi:10.1093/hmg/10.26.3101 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

Erratum
Hum. Mol. Genet. 2001 10: 3111; doi:10.1093/hmg/10.26.3111 [PDF] [Request Permissions]  

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