A conserved sorting-associated protein is mutant in chorea-acanthocytosispp119 - 120 Luca Rampoldi, Carol Dobson-Stone, Justin P. Rubio, Adrian Danek, Richard M. Chalmers, Nicholas W. Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian M. Fabrizi, Robert Brown, Jeffery Vance, Margaret Pericak-Vance, Gabrielle Rudolf, Sophie Carrè, Elisa Alonso, Michela Manfredi, Andrea H. Németh
& Anthony P. Monaco doi:10.1038/88821 Abstract|Full text|PDF
(199K)
|Supplementary Information
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosispp121 - 122 Shu-ichi Ueno, Yoshiko Maruki, Masayuki Nakamura, Yuko Tomemori, Kazue Kamae, Hirotaka Tanabe, Yoriaki Yamashita, Seiji Matsuda, Sunao Kaneko
& Akira Sano doi:10.1038/88825 Abstract|Full text|PDF
(516K)
|Supplementary Information
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophypp123 - 124 Debra A. Thompson, Yun Li, Christina L. McHenry, Thomas J. Carlson, Xiaoling Ding, Paul A. Sieving, Eckart Apfelstedt-Sylla
& Andreas Gal doi:10.1038/88828 Abstract|Full text|PDF
(883K)
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubismpp125 - 126 Yasuyoshi Ueki, Valdenize Tiziani, Carla Santanna, Naomi Fukai, Chris Maulik, Judah Garfinkle, Chisho Ninomiya, Cassio doAmaral, Hartmut Peters, Mutaz Habal, Laila Rhee-Morris, Jeffrey B. Doss, Sven Kreiborg, Bjorn R. Olsen
& Ernst Reichenberger doi:10.1038/88832 Abstract|Full text|PDF
(1,049K)
Association analysis of NOTCH4 loci in schizophrenia using family and population-based controlspp126 - 128 Pamela Sklar, Sibylle G. Schwab, Nigel M. Williams, Mark Daly, Stephen Schaffner, Wolfgang Maier, Margot Albus, Matyas Trixler, Peter Eichhammer, Bernard Lerer, Joachim Hallmayer, Nadine Norton, Hywel Williams, Stan Zammit, Alastair G. Cardno, Sue Jones, Geraldine McCarthy, Vihra Milanova, George Kirov, Michael C. O'Donovan, Eric S. Lander, Michael J. Owen
& Dieter B. Wildenauer doi:10.1038/88836 Abstract|Full text|PDF
(372K)
Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotlandpp128 - 129 Ralph E. McGinnis, Helen Fox, Phil Yates, Lee-Ann Cameron, Michael R. Barnes, Ian C. Gray, Nigel K. Spurr, Orest Hurko
& David St. Clair doi:10.1038/88839 Abstract|Full text|PDF
(35K)
Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degenerationpp131 - 138 Bert Oosthuyse, Lieve Moons, Erik Storkebaum, Heike Beck, Dieter Nuyens, Koen Brusselmans, Jo Van Dorpe, Peter Hellings, Marchel Gorselink, Stéphane Heymans, Gregor Theilmeier, Mieke Dewerchin, Vincent Laudenbach, Patrick Vermylen, Harold Raat, Till Acker, Vicky Vleminckx, Ludo Van Den Bosch, Neil Cashman, Hajime Fujisawa, Maarten R. Drost, Raf Sciot, Frans Bruyninckx, Daniel J Hicklin, Can Ince, Pierre Gressens, Florea Lupu, Karl H. Plate, Wim Robberecht, Jean-Marc Herbert, Désiré Collen
& Peter Carmeliet doi:10.1038/88842 Abstract|Full text|PDF
(1,774K)
|Supplementary Information See also:News and Views by Skene & Cleveland
High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selectionpp147 - 150 Hilary A. Coller, Konstantin Khrapko, Natalya D. Bodyak, Ekaterina Nekhaeva, Pablo Herrero-Jimenez
& William G. Thilly doi:10.1038/88859 Abstract|Full text|PDF
(911K)
See also:News and Views by Augenlicht & Heerdt
Mutant glycosyltransferase and altered glycosylation of -dystroglycan in the myodystrophy mousepp151 - 154 Prabhjit K. Grewal, Paul J. Holzfeind, Reginald E. Bittner
& Jane E. Hewitt doi:10.1038/88865 Abstract|Full text|PDF
(1,390K)
Telomere dysfunction and evolution of intestinal carcinoma in mice and humanspp155 - 159 Karl Lenhard Rudolph, Melissa Millard, Marcus W. Bosenberg
& Ronald A. DePinho doi:10.1038/88871 Abstract|Full text|PDF
(3,503K)
|Supplementary Information
Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism mappp160 - 164 Stephen R. Wicks, Raymond T. Yeh, Warren R. Gish, Robert H. Waterston
& Ronald H.A. Plasterk doi:10.1038/88878 Abstract|Full text|PDF
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Deregulated expression of c-Myc depletes epidermal stem cellspp165 - 168 Rebekah L. Waikel, Yasuhiro Kawachi, Patricia A. Waikel, Xiao-Jing Wang
& Dennis R. Roop doi:10.1038/88889 Abstract|Full text|PDF
(3,613K)
Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strainspp169 - 172 Changshun Shao, Peter J. Stambrook
& Jay A. Tischfield doi:10.1038/88897 Abstract|Full text|PDF
(56K)
See also:News and Views by Vrieling
Aberrant methylation of donor genome in cloned bovine embryospp173 - 177 Yong-Kook Kang, Deog-Bon Koo, Jung-Sun Park, Young-Hee Choi, An-Sik Chung, Kyung-Kwang Lee
& Yong-Mahn Han doi:10.1038/88903 Abstract|Full text|PDF
(1,963K)
A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humanspp178 - 183 Harald Esterbauer, Clemens Schneitler, Hannes Oberkofler, Christoph Ebenbichler, Bernhard Paulweber, Friedrich Sandhofer, Gunther Ladurner, Emanuel Hell, A. Donny Strosberg, Josef R. Patsch, Franz Krempler
& Wolfgang Patsch doi:10.1038/88911 Abstract|Full text|PDF
(1,131K)
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposispp184 - 187 James R. Howe, Jennifer L. Bair, Mohamed G. Sayed, Mary E. Anderson, Frank A. Mitros, Gloria M. Petersen, Victor E. Velculescu, Giovanni Traverso
& Bert Vogelstein doi:10.1038/88919 Abstract|Full text|PDF
(886K)
See also:News and Views by Eng
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4pp188 - 191 Kirk Mykytyn, Terry Braun, Rivka Carmi, Neena B. Haider, Charles C. Searby, Mythreyi Shastri, Gretel Beck, Alan F. Wright, Alessandro Iannaccone, Khalil Elbedour, Ruth Riise, Alfonso Baldi, Annick Raas-Rothschild, Susan W. Gorman, David M. Duhl, Samuel G. Jacobson, Thomas Casavant, Edwin M. Stone
& Val C. Sheffield doi:10.1038/88925 Abstract|Full text|PDF
(624K)
|Supplementary Information
-dystroglycan in the myodystrophy mouse
