OMIM passes the 1,000-disease-gene markp11 Stylianos E. Antonarakis
& Victor A. McKusick doi:10.1038/75497 Full text|PDF
(112K)
Allegro, a new computer program for multipoint linkage analysispp12 - 13 Daniel F. Gudbjartsson, Kristjan Jonasson, Michael L. Frigge
& Augustine Kong doi:10.1038/75514 Full text|PDF
(129K)
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22pp14 - 15 Clara Camaschella, Antonella Roetto, Angelita Calì, Marco De Gobbi, Giovanni Garozzo, Massimo Carella, Nunzia Majorano, Angela Totaro
& Paolo Gasparini doi:10.1038/75534 Abstract|Full text|PDF
(561K)
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12qpp15 - 17 Vanita Berry, Peter Francis, Shalesh Kaushal, Anthony Moore
& Shomi Bhattacharya doi:10.1038/75538 Abstract|Full text|PDF
(598K)
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2pp17 - 19 Alessandra Bolino, Maria Muglia, Francesca Luisa Conforti, Eric LeGuern, Mustafa A.M. Salih, Domna-Maria Georgiou, Kyproula Christodoulou, Irena Hausmanowa-Petrusewicz, Paola Mandich, Angelo Schenone, Antonio Gambardella, Franco Bono, Aldo Quattrone, Marcella Devoto
& Anthony P. Monaco doi:10.1038/75542 Abstract|Full text|PDF
(224K)
|Supplementary Information
The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1pp19 - 21 Robert Lyle, Daisuke Watanabe, Daniëlle te Vruchte, Walter Lerchner, Oskar W. Smrzka, Anton Wutz, Jeoffrey Schageman, Lisa Hahner, Christopher Davies
& Denise P. Barlow doi:10.1038/75546 Abstract|Full text|PDF
(348K)
Gene Ontology: tool for the unification of biologypp25 - 29 Michael Ashburner, Catherine A. Ball, Judith A. Blake, David Botstein, Heather Butler, J. Michael Cherry, Allan P. Davis, Kara Dolinski, Selina S. Dwight, Janan T. Eppig, Midori A. Harris, David P. Hill, Laurie Issel-Tarver, Andrew Kasarskis, Suzanna Lewis, John C. Matese, Joel E. Richardson, Martin Ringwald, Gerald M. Rubin
& Gavin Sherlock doi:10.1038/75556 Abstract|Full text|PDF
(1,196K)
Shotgun sample sequence comparisons between mouse and human genomespp31 - 33 John B. Bouck, Michael L. Metzker
& Richard A. Gibbs doi:10.1038/75563 Abstract|Full text|PDF
(215K)
Somatic integration and long-term transgene expression in normal and
haemophilic mice using a DNA transposon systempp35 - 41 Stephen R. Yant, Leonard Meuse, Winnie Chiu, Zoltan Ivics, Zsuzsanna Izsvak
& Mark A. Kay doi:10.1038/75568 Abstract|Full text|PDF
(669K)
Mutations in TFAP2B cause Char syndrome, a familial form of patent
ductus arteriosuspp42 - 46 Masahiko Satoda, Feng Zhao, George A. Diaz, John Burn, Judith Goodship, H. Rosemarie Davidson, Mary Ella M. Pierpont
& Bruce D. Gelb doi:10.1038/75578 Abstract|Full text|PDF
(412K)
A common polymorphism acts as an intragenic modifier of mutant p53 behaviour
pp47 - 54 Maria Carmen Marin, Christine A. Jost, Louise A. Brooks, Meredith S. Irwin, Jenny O'Nions, John A. Tidy, Nick James, Jane M. McGregor, Catherine A. Harwood, Isik G. Yulug, Karen H. Vousden, Martin J. Allday, Barry Gusterson, Shuntaro Ikawa, Philip W. Hinds, Tim Crook
& William G. Kaelin Jr doi:10.1038/75586 Abstract|Full text|PDF
(737K)
Combined activation of Ras and Akt in neural progenitors induces glioblastoma
formation in micepp55 - 57 Eric C. Holland, Joseph Celestino, Chengkai Dai, Laura Schaefer, Raymond E. Sawaya
& Gregory N. Fuller doi:10.1038/75596 Abstract|Full text|PDF
(246K)
Large-scale identification of secreted and membrane-associated gene products using DNA microarrayspp58 - 62 Maximilian Diehn, Michael B. Eisen, David Botstein
& Patrick O. Brown doi:10.1038/75603 Abstract|Full text|PDF
(871K)
Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degenerationpp63 - 66 Christian Grimm, Andreas Wenzel, Farhad Hafezi, Shirley Yu, T. Michael Redmond
& Charlotte E. Remé doi:10.1038/75614 Abstract|Full text|PDF
(331K)
Rom-1 is required for rod photoreceptor viability and the regulation
of disk morphogenesispp67 - 73 Geoff Clarke, Andrew F.X. Goldberg, Danka Vidgen, Leslie Collins, Lynda Ploder, Lois Schwarz, Laurie L. Molday, Janet Rossant, Ágoston Szél, Robert S. Molday, David G. Birch
& Roderick R. McInnes doi:10.1038/75621 Abstract|Full text|PDF
(900K)
De novo deletions of SNRPN exon 1 in early human and mouse
embryos result in a paternal to maternal imprint switchpp74 - 78 Beata Bielinska, Susan M. Blaydes, Karin Buiting, Tao Yang, Malgorzata Krajewska-Walasek, Bernhard Horsthemke
& Camilynn I. Brannan doi:10.1038/75629 Abstract|Full text|PDF
(622K)
See also:News and Views by Mann & Bartolomei
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndromepp79 - 82 Deborah L. Stone, Anne Slavotinek, Gerard G. Bouffard, Sharmila Banerjee-Basu, Andreas D. Baxevanis, Mason Barr
& Leslie G. Biesecker doi:10.1038/75637 Abstract|Full text|PDF
(297K)
Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud developmentpp83 - 86 Xin Sun, Mark Lewandoski, Erik N. Meyers, Yi-Hsin Liu, Robert E. Maxson Jr
& Gail R. Martin doi:10.1038/75644 Abstract|Full text|PDF
(504K)
Obesity resistance and multiple mechanisms of triglyceride synthesis
in mice lacking Dgatpp87 - 90 Steven J. Smith, Sylvaine Cases, Dalan R. Jensen, Hubert C. Chen, Eric Sande, Bryan Tow, David A. Sanan, Jacob Raber, Robert H. Eckel
& Robert V. Farese Jr doi:10.1038/75651 Abstract|Full text|PDF
(285K)
See also:News and Views by Kahn
Mutations in KERA, encoding keratocan, cause cornea planapp91 - 95 Natalia S. Pellegata, Jose L. Dieguez-Lucena, Tarja Joensuu, Stephanie Lau, Kate T. Montgomery, Ralf Krahe, Tero Kivelä, Raju Kucherlapati, Henrik Forsius
& Albert de la Chapelle doi:10.1038/75664 Abstract|Full text|PDF
(713K)
Transcript imaging of the development of human T helper cells using oligonucleotide arrayspp96 - 101 Lars Rogge, Elisabetta Bianchi, Mauro Biffi, Elisa Bono, Sheng-Yung P. Chang, Heather Alexander, Chris Santini, Giuliana Ferrari, Luigi Sinigaglia, Monika Seiler, Martin Neeb, Jan Mous, Francesco Sinigaglia
& Ulrich Certa doi:10.1038/75671 Abstract|Full text|PDF
(1,411K)
|Supplementary Information
Dopamine is required for hyperphagia in Lepob/ob micepp102 - 104 Mark S. Szczypka, Mark A. Rainey
& Richard D. Palmiter doi:10.1038/75484 Abstract|Full text|PDF
(330K)
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophypp105 - 109 Todd R. Klesert, Diane H. Cho, John I. Clark, James Maylie, John Adelman, Lauren Snider, Eric C. Yuen, Philippe Soriano
& Stephen J. Tapscott doi:10.1038/75490 Abstract|Full text|PDF
(382K)
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataractspp110 - 114 Partha S. Sarkar, Binoy Appukuttan, Jennifer Han, Yoshihiro Ito, Cuiwei Ai, Wenli Tsai, Yang Chai, J. Timothy Stout
& Sita Reddy doi:10.1038/75500 Abstract|Full text|PDF
(527K)
ATM-dependent phosphorylation of nibrin in response to radiation exposurepp115 - 119 Magtouf Gatei, David Young, Karen M. Cerosaletti, Ami Desai-Mehta, Kevin Spring, Sergei Kozlov, Martin F. Lavin, Richard A. Gatti, Patrick Concannon
& KumKum Khanna doi:10.1038/75508 Abstract|Full text|PDF
(603K)
Genetic and epigenetic incompatibilities underlie hybrid dysgenesis in Peromyscuspp120 - 124 Paul B. Vrana, John A. Fossella, Paul Matteson, Tony del Rio, Michael J. O'Neill
& Shirley M. Tilghman doi:10.1038/75518 Abstract|Full text|PDF
(280K)
Erratum to "Analysing complex genetic traits with chromosome substitution
strains"p125 doi:10.1038/75526 Full text|PDF
(75K)
Erratum to "Mutations in a new gene in Ellis-van Creveld syndrome
and Weyers acrodental dysostosis"p125 doi:10.1038/75528 Full text|PDF
(75K)
Erratum to "MSX1 mutation is associated with orofacial clefting
and tooth agenesis in humans"p125 doi:10.1038/75530 Full text|PDF
(75K)
Correction to "NPHS2, encoding the glomerular protein podocin,
is mutated in autosomal recessive steroid-resistant nephrotic syndrome"
p125 doi:10.1038/75532 Full text|PDF
(75K)
