A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genomepp339 - 340 Ilan R. Kirsch, Eric D. Green, Raluca Yonescu, Robert Strausberg, Nigel Carter, David Bentley, Margaret A. Leversha, Ian Dunham, Valerie V. Braden, Eva Hilgenfeld, Greg Schuler, Alex E. Lash, Grace L. Shen, Maria Martelli, W. Michael Kuehl, Richard D. Klausner
& Thomas Ried doi:10.1038/74149 Full text|PDF
(408K)
|Supplementary Information
ISIS, the intron information system, reveals the high frequency of alternative splicing in the human genomepp340 - 341 Larry Croft, Soeren Schandorff, Francis Clark, Kevin Burrage, Peter Arctander
& John S. Mattick doi:10.1038/74153 Full text|PDF
(170K)
MSX1 mutation is associated with orofacial clefting and tooth
agenesis in humanspp342 - 343 Marie-José H. van den Boogaard, Marinus Dorland, Frits A. Beemer
& Hans Kristian Ploos van Amstel doi:10.1038/74155 Abstract|Full text|PDF
(231K)
See also:News and Views by Ferguson
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2pp343 - 345 Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler, Stéphanie Baulac, Gilles Huberfeld, Isabelle An-Gourfinkel, Alexis Brice, Eric LeGuern, Bruno Moulard, Denys Chaigne, Catherine Buresi
& Alain Malafosse doi:10.1038/74159 Abstract|Full text|PDF
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NPHS2, encoding the glomerular protein podocin, is mutated in
autosomal recessive steroid-resistant nephrotic syndromepp349 - 354 Nicolas Boute, Olivier Gribouval, Séverine Roselli, France Benessy, Hyunjoo Lee, Arno Fuchshuber, Karin Dahan, Marie-Claire Gubler, Patrick Niaudet
& Corinne Antignac doi:10.1038/74166 Abstract|Full text|PDF
(568K)
|Supplementary Information See also:News and Views by Somlo & Mundel
Robustness against mutations in genetic networks of yeastpp355 - 361 Andreas Wagner doi:10.1038/74174 Abstract|Full text|PDF
(345K)
Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylationpp368 - 371 Richard J. Gibbons, Tarra L. McDowell, Sundhya Raman, Delia M. O'Rourke, David Garrick, Helena Ayyub
& Douglas R. Higgs doi:10.1038/74191 Abstract|Full text|PDF
(361K)
In vivo modulation of Hmgic reduces obesitypp377 - 380 Ashim Anand
& Kiran Chada doi:10.1038/74207 Abstract|Full text|PDF
(1,000K)
Large-scale discovery and genotyping of single-nucleotide polymorphisms
in the mousepp381 - 386 Kerstin Lindblad-Toh, Ellen Winchester, Mark J. Daly, David G. Wang, Joel N. Hirschhorn, Jean-Philippe Laviolette, Kristin Ardlie, David E. Reich, Elizabeth Robinson, Pamela Sklar, Nila Shah, Daryl Thomas, Jian-Bing Fan, Thomas Gingeras, Janet Warrington, Nila Patil, Thomas J. Hudson
& Eric S. Lander doi:10.1038/74215 Abstract|Full text|PDF
(511K)
Functional haploinsufficiency of the human homeobox gene MSX2
causes defects in skull ossificationpp387 - 390 Andrew O.M. Wilkie, Zequn Tang, Navaratnam Elanko, Sinead Walsh, Stephen R.F. Twigg, Jane A. Hurst, Steven A. Wall, Krystyna H. Chrzanowska
& Robert E. Maxson Jr doi:10.1038/74224 Abstract|Full text|PDF
(666K)
See also:News and Views by Ferguson
Msx2 deficiency in mice causes pleiotropic defects in bone growth
and ectodermal organ formationpp391 - 395 Ichiro Satokata, Liang Ma, Hayato Ohshima, Marianna Bei, Ian Woo, Kazumichi Nishizawa, Takeyasu Maeda, Yoshiro Takano, Makoto Uchiyama, Shaun Heaney, Heiko Peters, Zequn Tang, Robert Maxson
& Richard Maas doi:10.1038/74231 Abstract|Full text|PDF
(3,770K)
See also:News and Views by Ferguson
The direction of microsatellite mutations is dependent upon allele length
pp396 - 399 Xin Xu, Mei Peng, Zhian Fang
& Xiping Xu doi:10.1038/74238 Abstract|Full text|PDF
(187K)
Heterogeneous mutation processes in human microsatellite DNA sequencespp400 - 402 Hans Ellegren doi:10.1038/74249 Abstract|Full text|PDF
(151K)
Abnormal adaptations to stress and impaired cardiovascular function in mice lacking corticotropin-releasing hormone receptor-2pp403 - 409 Sarah C. Coste, Robert A. Kesterson, Kurt A. Heldwein, Susan L. Stevens, Amanda D. Heard, Jacob H. Hollis, Susan E. Murray, Jennifer K. Hill, George A. Pantely, Alan R. Hohimer, Daniel C. Hatton, Tamara J. Phillips, Deborah A. Finn, Malcolm J. Low, Marvin B. Rittenberg, Peter Stenzel
& Mary P. Stenzel-Poore doi:10.1038/74255 Abstract|Full text|PDF
(303K)
Mice deficient for corticotropin-releasing hormone receptor-2 display anxiety-like behaviour and are hypersensitive to stresspp410 - 414 Tracy L. Bale, Angelo Contarino, George W. Smith, Raymond Chan, Lisa H. Gold, Paul E. Sawchenko, George F. Koob, Wylie W. Vale
& Kuo-Fen Lee doi:10.1038/74263 Abstract|Full text|PDF
(598K)
Deletion of Crhr2 reveals an anxiolytic role for corticotropin-releasing hormone receptor-2pp415 - 419 Toshimitsu Kishimoto, Jelena Radulovic, Marko Radulovic, Chijen R. Lin, Christina Schrick, Farideh Hooshmand, Ola Hermanson, Michael G. Rosenfeld
& Joachim Spiess doi:10.1038/74271 Abstract|Full text|PDF
(391K)
The SH2 tyrosine phosphatase Shp2 is required for mammalian limb developmentpp420 - 423 Tracy M. Saxton, Brian G. Ciruna, Doug Holmyard, Sarang Kulkarni, Ken Harpal, Janet Rossant
& Tony Pawson doi:10.1038/74279 Abstract|Full text|PDF
(855K)
Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin 81pp424 - 428 Amanda Littlewood Evans
& Ulrich Müller doi:10.1038/74286 Abstract|Full text|PDF
(1,178K)
The homeobox gene mirror links EGF signalling to embryonic dorso-ventral axis formation through Notch activationpp429 - 433 Katherine C. Jordan, Nigel J. Clegg, Jennifer A. Blasi, Alyssa M. Morimoto, Jonaki Sen, David Stein, Helen McNeill, Wu-Min Deng, Michael Tworoger
& Hannele Ruohola-Baker doi:10.1038/74294 Abstract|Full text|PDF
(1,590K)
Mutations in Sox18 underlie cardiovascular and hair follicle defects
in ragged micepp434 - 437 David Pennisi, Jennifer Gardner, Doreen Chambers, Brett Hosking, Josephine Peters, George Muscat, Catherine Abbott
& Peter Koopman doi:10.1038/74301 Abstract|Full text|PDF
(601K)
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosispp438 - 441 Michael P. Bulman, Kenro Kusumi, Timothy M. Frayling, Carole McKeown, Christine Garrett, Eric S. Lander, Robb Krumlauf, Andrew T. Hattersley, Sian Ellard
& Peter D. Turnpenny doi:10.1038/74307 Abstract|Full text|PDF
(882K)
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