Human Molecular Genetics

ARTICLES:

J. Keith Killian, Catherine M. Nolan, Andrew A. Wylie, Tao Li, Thanh H. Vu, Andrew R. Hoffman, and Randy L. Jirtle

Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary
Hum. Mol. Genet. 2001 10: 1721-1728; doi:10.1093/hmg/10.17.1721 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Janine M. LaSalle, Jared Goldstine, Damina Balmer, and Claudia M. Greco

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
Hum. Mol. Genet. 2001 10: 1729-1740; doi:10.1093/hmg/10.17.1729 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Rossana Jorquera and Robert M. Tanguay

Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability
Hum. Mol. Genet. 2001 10: 1741-1752; doi:10.1093/hmg/10.17.1741 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wen-Hsing Lin, Ken C. Chiu, Hui-Min Chang, Kuan-Chin Lee, Tong-Yuan Tai, and Lee-Ming Chuang

Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes
Hum. Mol. Genet. 2001 10: 1753-1760; doi:10.1093/hmg/10.17.1753 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chie Matsuda, Yukiko K. Hayashi, Megumu Ogawa, Masashi Aoki, Kumiko Murayama, Ichizo Nishino, Ikuya Nonaka, Kiichi Arahata, and Robert H. Brown Jr

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
Hum. Mol. Genet. 2001 10: 1761-1766; doi:10.1093/hmg/10.17.1761 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cristina Sobacchi, Annalisa Frattini, Paul Orchard, Oscar Porras, Ilhan Tezcan, Marino Andolina, Riyana Babul-Hirji, Ivo Baric, Natalie Canham, David Chitayat, Sophie Dupuis-Girod, Ian Ellis, Amos Etzioni, Anders Fasth, Alain Fisher, Bert Gerritsen, Virginia Gulino, Edwin Horwitz, Verena Klamroth, Edoardo Lanino, Massimiliano Mirolo, Antonio Musio, Gert Matthijs, Shigeaki Nonomaya, Luigi D. Notarangelo, Hans D. Ochs, Andrea Superti Furga, Jouni Valiaho, Johan L.K. van Hove, Mauno Vihinen, Dragana Vujic, Paolo Vezzoni, and Anna Villa

The mutational spectrum of human malignant autosomal recessive osteopetrosis
Hum. Mol. Genet. 2001 10: 1767-1773; doi:10.1093/hmg/10.17.1767 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Volney L. Sheen, Peter H. Dixon, Jeremy W. Fox, Susan E. Hong, Lucy Kinton, Sanjay M. Sisodiya, John S. Duncan, Francois Dubeau, Ingrid E. Scheffer, Steven C. Schachter, Andrew Wilner, Ruth Henchy, Peter Crino, Kazuhiro Kamuro, Frances DiMario, Michel Berg, Ruben Kuzniecky, Andrew J. Cole, Edward Bromfield, Michael Biber, Donald Schomer, James Wheless, Kenneth Silver, Ganeshwaran H. Mochida, Samuel F. Berkovic, Fred Andermann, Eva Andermann, William B. Dobyns, Nicholas W. Wood, and Christopher A. Walsh

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
Hum. Mol. Genet. 2001 10: 1775-1783; doi:10.1093/hmg/10.17.1775 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Véronique Albanèse, Nicole Faucon Biguet, Hélène Kiefer, Elisa Bayard, Jacques Mallet, and Rolando Meloni

Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite
Hum. Mol. Genet. 2001 10: 1785-1792; doi:10.1093/hmg/10.17.1785 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anne M. Bowcock, William Shannon, Fenghe Du, Jill Duncan, Kai Cao, Kent Aftergut, Jennifer Catier, Marcelo A. Fernandez-Vina, and Alan Menter

Insights into psoriasis and other inflammatory diseases from large-scale gene expression studies
Hum. Mol. Genet. 2001 10: 1793-1805; doi:10.1093/hmg/10.17.1793 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stephanie Waelter, Eberhard Scherzinger, Renate Hasenbank, Eckhard Nordhoff, Rudi Lurz, Heike Goehler, Christine Gauss, Kirupa Sathasivam, Gillian P. Bates, Hans Lehrach, and Erich E. Wanker

The huntingtin interacting protein HIP1 is a clathrin and -adaptin-binding protein involved in receptor-mediated endocytosis
Hum. Mol. Genet. 2001 10: 1807-1817; doi:10.1093/hmg/10.17.1807 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yves De Repentigny, Patrice D. Côté, Madeline Pool, Gilbert Bernier, Sonia Girard, Silvia M. Vidal, and Rashmi Kothary

Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a
Hum. Mol. Genet. 2001 10: 1819-1827; doi:10.1093/hmg/10.17.1819 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andreas Wyttenbach, Jina Swartz, Hiroko Kita, Thomas Thykjaer, Jenny Carmichael, Jane Bradley, Rosemary Brown, Michelle Maxwell, Anthony Schapira, Torben F. Orntoft, Kikuya Kato, and David C. Rubinsztein

Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington’s disease
Hum. Mol. Genet. 2001 10: 1829-1845; doi:10.1093/hmg/10.17.1829 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matt Farrer, Demetrius M. Maraganore, Paul Lockhart, Andrew Singleton, T.G. Lesnick, Mariza de Andrade, Andrew West, Rohan de Silva, John Hardy, and Dena Hernandez

-synuclein gene haplotypes are associated with Parkinson’s disease
Hum. Mol. Genet. 2001 10: 1847-1851; doi:10.1093/hmg/10.17.1847 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chris P. Ponting

Domain homologues of dopamine ß-hydroxylase and ferric reductase: roles for iron metabolism in neurodegenerative disorders?
Hum. Mol. Genet. 2001 10: 1853-1858; doi:10.1093/hmg/10.17.1853 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Agnès C. Thénié, Isabelle M. Gicquel, Serge Hardy, Hélène Ferran, Patricia Fergelot, Jean-Yves Le Gall, and Jean Mosser

Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene
Hum. Mol. Genet. 2001 10: 1859-1866; doi:10.1093/hmg/10.17.1859 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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