An almost-intact human endogenous retrovirus K on human chromosome 7
pp257 - 258 Jens Mayer, Marlies Sauter, Alexander Rácz, Daniela Scherer, Nikolaus Mueller-Lantzsch
& Eckart Meese doi:10.1038/6766 Full text|PDF
(204K)
300 million years of conserved synteny between chicken Z and human chromosome 9pp258 - 259 Indrajit Nanda, Zhihong Shan, Manfred Schartl, Dave W. Burt, Michael Koehler, Hans-Gerd Nothwang, Frank Grützner, Ian R. Paton, Dawn Windsor, Ian Dunn, Wolfgang Engel, Peter Staeheli, Shigeki Mizuno, Thomas Haaf
& Michael Schmid doi:10.1038/6769 Full text|PDF
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Mutant NDUFV1 subunit of mitochondrial complex I causes
leukodystrophy and myoclonic epilepsypp260 - 261 Markus Schuelke, Jan Smeitink, Edwin Mariman, Jan Loeffen, Barbara Plecko, Frans Trijbels, Sylvia Stöckler-Ipsiroglu
& Lambert van den Heuvel doi:10.1038/6772 Full text|PDF
(224K)
The insulin gene VNTR, type 2 diabetes and birth weightpp262 - 263 Ken K.L. Ong, David I. Phillips, Caroline Fall, Jo Poulton, Simon T. Bennett, Jean Golding, John A. Todd
& David B. Dunger doi:10.1038/6775 Full text|PDF
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Deafness linked to DFNA2: one locus but how many genes?p263 Peter Van Hauwe, Paul J. Coucke, Frank Declau, Henricus Kunst, Robbert J. Ensink, Henri A. Marres, Cor W.R.J. Cremers, Bulantrisna Djelantik, Shelley D. Smith, Phil Kelley, Paul H. Van de Heyning
& Guy Van Camp doi:10.1038/6778 Full text|PDF
(89K)
Mutations in ATP2A2, encoding a Ca2+ pump, cause
Darier diseasepp271 - 277 Anavaj Sakuntabhai, Victor Ruiz-Perez, Simon Carter, Nick Jacobsen, Susan Burge, Sarah Monk, Melanie Smith, Colin S. Munro, Michael O'Donovan, Nick Craddock, Raju Kucherlapati, Jonathan L. Rees, Mike Owen, G. Mark Lathrop, Anthony P. Monaco, Tom Strachan
& Alain Hovnanian doi:10.1038/6784 Abstract|Full text|PDF
(337K)
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Genomic profiling of drug sensitivities via induced haploinsufficiency
pp278 - 283 Guri Giaever, Daniel D. Shoemaker, Ted W. Jones, Hong Liang, Elizabeth A. Winzeler, Anna Astromoff
& Ronald W. Davis doi:10.1038/6791 Abstract|Full text|PDF
(236K)
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss
muscular dystrophypp285 - 288 Gisèle Bonne, Marina Raffaele Di Barletta, Shaida Varnous, Henri-Marc Bécane, El-Hadi Hammouda, Luciano Merlini, Francesco Muntoni, Cheryl R. Greenberg, Françoise Gary, Jon-Andoni Urtizberea, Denis Duboc, Michel Fardeau, Daniela Toniolo
& Ketty Schwartz doi:10.1038/6799 Abstract|Full text|PDF
(425K)
Notch signalling pathway mediates hair cell development in mammalian
cochleapp289 - 292 Pamela J. Lanford, Yu Lan, Rulang Jiang, Claire Lindsell, Gerry Weinmaster, Thomas Gridley
& Matthew W. Kelley doi:10.1038/6804 Abstract|Full text|PDF
(327K)
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Identification of SLC7A7, encoding y+LAT-1, as
the lysinuric protein intolerance genepp293 - 296 David Torrents, Juha Mykkänen, Marta Pineda, Lidia Feliubadaló, Raúl Estévez, Rafael de Cid, Pablo Sanjurjo, Antonio Zorzano, Virginia Nunes, Kirsi Huoponen, Arja Reinikainen, Olli Simell, Marja-Liisa Savontaus, Pertti Aula
& Manuel Palacín doi:10.1038/6809 Abstract|Full text|PDF
(602K)
SLC7A7, encoding a putative permease-related protein, is mutated
in patients with lysinuric protein intolerancepp297 - 301 Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo, Alessandro De Grandi, Anna Buoninconti, Mirko Riboni, Marta Manzoni, Barbara Incerti, Antonio Pepe, Generoso Andria, Andrea Ballabio
& Gianfranco Sebastio doi:10.1038/6815 Abstract|Full text|PDF
(623K)
Heterozygous mutations in the gene encoding noggin affect human joint
morphogenesispp302 - 304 Yaoqin Gong, Deborah Krakow, Jose Marcelino, Douglas Wilkin, David Chitayat, Riyana Babul-Hirji, Louanne Hudgins, Cor W. Cremers, Frans P.M. Cremers, Han G. Brunner, Kent Reinker, David L. Rimoin, Daniel H. Cohn, Frances R. Goodman, William Reardon, Michael Patton, Clair A. Francomano
& Matthew L. Warman doi:10.1038/6821 Abstract|Full text|PDF
(160K)
High-resolution mapping of quantitative trait loci in outbred micepp305 - 308 Christopher J. Talbot, Alison Nicod, Stacey S. Cherny, David W. Fulker, Allan C. Collins
& Jonathan Flint doi:10.1038/6825 Abstract|Full text|PDF
(103K)
Mutations in CUBN, encoding the intrinsic factor-vitamin B
12 receptor, cubilin, cause hereditary megaloblastic anaemia 1pp309 - 313 Maria Aminoff, Jo Ellen Carter, Robert B. Chadwick, Cheryl Johnson, Ralph Gräsbeck, Mohamed A. Abdelaal, Harald Broch, Lasse B. Jenner, Pierre J. Verroust, Soeren K. Moestrup, Albert de la Chapelle
& Ralf Krahe doi:10.1038/6831 Abstract|Full text|PDF
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Involvement of nucleotide-excision repair in msh2 pms1-independent
mismatch repairpp314 - 317 Oliver Fleck, Elisabeth Lehmann, Primo Schär
& Jürg Kohli doi:10.1038/6838 Abstract|Full text|PDF
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Prox1 function is crucial for mouse lens-fibre elongationpp318 - 322 Jeffrey T. Wigle, Kamal Chowdhury, Peter Gruss
& Guillermo Oliver doi:10.1038/6844 Abstract|Full text|PDF
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Reliable identification of large numbers of candidate SNPs from public
EST datapp323 - 325 Kenneth H. Buetow, Michael N. Edmonson
& Anna B. Cassidy doi:10.1038/6851 Abstract|Full text|PDF
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Amino-terminal phosphorylation of c-Jun regulates stress-induced apoptosis and cellular proliferationpp326 - 329 Axel Behrens, Maria Sibilia
& Erwin F. Wagner doi:10.1038/6854 Abstract|Full text|PDF
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Neuroendocrine dysplasia in mice lacking protein tyrosine phosphatase pp330 - 333 Mounib Elchebly, John Wagner, Timothy E. Kennedy, Christian Lanctôt, Eva Michaliszyn, Annick Itié, Jacques Drouin
& Michel L. Tremblay doi:10.1038/6859 Abstract|Full text|PDF
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Neuronal defects and posterior pituitary hypoplasia in mice lacking the
receptor tyrosine phosphatase PTPpp334 - 338 M.J. Wallace, J. Batt, C.A. Fladd, J.T. Henderson, W. Skarnes
& D. Rotin doi:10.1038/6866 Abstract|Full text|PDF
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