Of giant axons and curly hairpp254 - 255 Vincent Timmerman, Peter De Jonghe
& Christine Van Broeckhoven doi:10.1038/81521 Abstract|Full text|PDF
(291K)
Viva la revolution! A report from the FANTOM Meetingpp255 - 256 John Quackenbush doi:10.1038/81525 Full text|PDF
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Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase -subunitpp265 - 266 Iwan C. Meij, Jan B. Koenderink, Hans van Bokhoven, Karin F.H. Assink, Wouter Tiel Groenestege, Jan Joep H.H.M. de Pont, René J.M. Bindels, Leo A.H. Monnens, Lambert P.W.J. van den Heuvel
& Nine V.A.M. Knoers doi:10.1038/81543 Abstract|Full text|PDF
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Mater, a maternal effect gene required for early embryonic development in micepp267 - 268 Zhi-Bin Tong, Lyn Gold, Karl E. Pfeifer, Heidi Dorward, Eric Lee, Carolyn A. Bondy, Jurrien Dean
& Lawrence M. Nelson doi:10.1038/81547 Abstract|Full text|PDF
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Mutations in SDHC cause autosomal dominant paraganglioma, type 3pp268 - 270 Stephan Niemann
& Ulrich Müller doi:10.1038/81551 Abstract|Full text|PDF
(1,229K)
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosapp270 - 271 Andreas Gal, Yun Li, Debra A. Thompson, Jessica Weir, Ulrike Orth, Samuel G. Jacobson, Eckart Apfelstedt-Sylla
& Douglas Vollrath doi:10.1038/81555 Abstract|Full text|PDF
(460K)
Normal telomere lengths found in cloned cattlepp272 - 273 X. Cindy Tian, Jie Xu
& Xiangzhong Yang doi:10.1038/81559 Abstract|Full text|PDF
(218K)
Mutations in the gene encoding the latency-associated peptide of TGF-1 cause Camurati-Engelmann diseasepp273 - 275 Katrien Janssens, Ruth Gershoni-Baruch, Nuria Guañabens, Nicola Migone, Stuart Ralston, Maryse Bonduelle, Willy Lissens, Lionel Van Maldergem, Filip Vanhoenacker, Leon Verbruggen
& Wim Van Hul doi:10.1038/81563 Abstract|Full text|PDF
(293K)
The nicotinic receptor 2 subunit is mutant in nocturnal frontal
lobe epilepsypp275 - 276 Maurizio De Fusco, Andrea Becchetti, Andrea Patrignani, Grazia Annesi, Antonio Gambardella, Aldo Quattrone, Andrea Ballabio, Enzo Wanke
& Giorgio Casari doi:10.1038/81566 Abstract|Full text|PDF
(155K)
|Supplementary Information
Analysis of yeast protein kinases using protein chipspp283 - 289 Heng Zhu, James F. Klemic, Swan Chang, Paul Bertone, Antonio Casamayor, Kathryn G. Klemic, David Smith, Mark Gerstein, Mark A. Reed
& Michael Snyder doi:10.1038/81576 Abstract|Full text|PDF
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|Supplementary Information
Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19ARF) and is amplified in a subset of human breast cancerspp291 - 299 Jacqueline J.L. Jacobs, Petra Keblusek, Els Robanus-Maandag, Petra Kristel, Merel Lingbeek, Petra M. Nederlof, Tibor van Welsem, Marc J. van de Vijver, Eugene Y. Koh, George Q. Daley
& Maarten van Lohuizen doi:10.1038/81583 Abstract|Full text|PDF
(661K)
Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in micepp300 - 306 Ioannis Dragatsis, Michael S. Levine
& Scott Zeitlin doi:10.1038/81593 Abstract|Full text|PDF
(1,298K)
Sublimiting concentration of TFIIH transcription/DNA repair factor causes
TTD-A trichothiodystrophy disorderpp307 - 313 Wim Vermeulen, Etienne Bergmann, Jérôme Auriol, Suzanne Rademakers, Philippe Frit, Esther Appeldoorn, Jan H.J. Hoeijmakers
& Jean-Marc Egly doi:10.1038/81603 Abstract|Full text|PDF
(3,285K)
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Mining the human genome using microarrays of open reading framespp315 - 318 Sharron G. Penn, David R. Rank, David K. Hanzel
& David L. Barker doi:10.1038/81613 Abstract|Full text|PDF
(349K)
|Supplementary Information
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnesspp319 - 323 N.Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum, Rebecca L. Sparkes, Ben Koop, David G. Birch, Arthur A.B. Bergen, Clemens F.M. Prinsen, Robert C. Polomeno, Andreas Gal, Arlene V. Drack, Maria A. Musarella, Samuel G. Jacobson, Rockefeller S.L. Young
& Richard G. Weleber doi:10.1038/81619 Abstract|Full text|PDF
(2,654K)
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat proteinpp324 - 327 Carsten M. Pusch, Christina Zeitz, Oliver Brandau, Katrin Pesch, Helene Achatz, Silke Feil, Curt Scharfe, Johannes Maurer, Felix K. Jacobi, Alfred Pinckers, Sten Andreasson, Alison Hardcastle, Bernd Wissinger, Wolfgang Berger
& Alfons Meindl doi:10.1038/81627 Abstract|Full text|PDF
(504K)
Arteriovenous malformations in mice lacking activin receptor-like kinase-1pp328 - 331 Lisa D. Urness, Lise K. Sorensen
& Dean Y. Li doi:10.1038/81634 Abstract|Full text|PDF
(2,376K)
Mutant WD-repeat protein in triple-A syndromepp332 - 335 Anna Tullio-Pelet, Rémi Salomon, Smaïl Hadj-Rabia, Claude Mugnier, Marc-Henri de Laet, Beji Chaouachi, Fawzi Bakiri, Philippe Brottier, Laurence Cattolico, Clothilde Penet, Martine Bégeot, Danielle Naville, Marc Nicolino, Jean-Louis Chaussain, Jean Weissenbach, Arnold Munnich
& Stanislas Lyonnet doi:10.1038/81642 Abstract|Full text|PDF
(314K)
Impaired insulin secretion and -cell loss in tissue-specific knockout mice with mitochondrial diabetespp336 - 340 José P. Silva, Martin Köhler, Caroline Graff, Anders Oldfors, Mark A. Magnuson, Per-Olof Berggren
& Nils-Göran Larsson doi:10.1038/81649 Abstract|Full text|PDF
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The human Rhesus-associated RhAG protein and a kidney homologue promote
ammonium transport in yeastpp341 - 344 Anne-Marie Marini, Giorgio Matassi, Virginie Raynal, Bruno André, Jean-Pierre Cartron
& Baya Chérif-Zahar doi:10.1038/81656 Abstract|Full text|PDF
(229K)
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Autosomal dominant hypophosphataemic rickets is associated with mutations
in FGF23pp345 - 348 Kenneth E. White, Wayne E. Evans, Jeffery L.H. O'Riordan, Marcy C. Speer, Michael J. Econs, Bettina Lorenz-Depiereux, Monika Grabowski, Thomas Meitinger
& Tim M. Strom doi:10.1038/81664 Abstract|Full text|PDF
(303K)
Histone deacetylase interacts directly with DNA topoisomerase IIpp349 - 353 Shih-Chang Tsai, Nikola Valkov, Wen-Ming Yang, Jana Gump, Daniel Sullivan
& Edward Seto doi:10.1038/81671 Abstract|Full text|PDF
(655K)
IgA nephropathy, the most common cause of glomerulonephritis, is linked
to 6q22−23pp354 - 357 Ali G. Gharavi, Yan Yan, Francesco Scolari, F. Paolo Schena, Giovanni M. Frasca, Gian Marco Ghiggeri, Kerry Cooper, Antonio Amoroso, Battista Fabio Viola, Graziana Battini, Gianluca Caridi, Cristina Canova, Anita Farhi, Vairavan Subramanian, Carol Nelson-Williams, Sue Woodford, Bruce A. Julian, Robert J. Wyatt
& Richard P. Lifton doi:10.1038/81677 Abstract|Full text|PDF
(265K)
|Supplementary Information
Y chromosome sequence variation and the history of human populationspp358 - 361 Peter A. Underhill, Peidong Shen, Alice A. Lin, Li Jin, Giuseppe Passarino, Wei H. Yang, Erin Kauffman, Batsheva Bonné-Tamir, Jaume Bertranpetit, Paolo Francalacci, Muntaser Ibrahim, Trefor Jenkins, Judith R. Kidd, S. Qasim Mehdi, Mark T. Seielstad, R. Spencer Wells, Alberto Piazza, Ronald W. Davis, Marcus W. Feldman, L. Luca Cavalli-Sforza
& Peter. J. Oefner doi:10.1038/81685 Abstract|Full text|PDF
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A common variant in BRCA2 is associated with both breast cancer risk and prenatal viabilitypp362 - 364 Catherine S. Healey, Alison M. Dunning, M. Dawn Teare, Diana Chase, Louise Parker, John Burn, Jenny Chang-Claude, Arto Mannermaa, Vesa Kataja, David G. Huntsman, Paul D.P. Pharoah, Robert N. Luben, Douglas F. Easton
& Bruce A.J. Ponder doi:10.1038/81691 Abstract|Full text|PDF
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Loss-of-function mutations in the EGF-CFC gene CFC1 are associated
with human left-right laterality defectspp365 - 369 Richard N. Bamford, Erich Roessler, Rebecca D. Burdine, Umay aplako, June dela Cruz, Miranda Splitt, Jeffrey Towbin, Peter Bowers, Bruno Marino, Alexander F. Schier, Michael M. Shen, Maximilian Muenke
& Brett Casey doi:10.1038/81695 Abstract|Full text|PDF
(1,601K)
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch
repeat family, is mutated in giant axonal neuropathypp370 - 374 Pascale Bomont, Laurent Cavalier, François Blondeau, Christiane Ben Hamida, Samir Belal, Meriem Tazir, Ercan Demir, Haluk Topaloglu, Rudolf Korinthenberg, Beyhan Tüysüz, Pierre Landrieu, Fayçal Hentati
& Michel Koenig doi:10.1038/81701 Abstract|Full text|PDF
(290K)
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Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an
active mispair recognition complexpp375 - 378 Hernan Flores-Rozas, Delbert Clark
& Richard D. Kolodner doi:10.1038/81708 Abstract|Full text|PDF
(812K)
Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85pp379 - 382 David A. Fruman, Franck Mauvais-Jarvis, Daniel A. Pollard, Claudine M. Yballe, Derek Brazil, Roderick T. Bronson, C. Ronald Kahn
& Lewis C. Cantley doi:10.1038/81715 Abstract|Full text|PDF
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-subunit
1 cause Camurati-Engelmann disease
aplako, June dela Cruz, Miranda Splitt, Jeffrey Towbin, Peter Bowers, Bruno Marino, Alexander F. Schier, Michael M. Shen, Maximilian Muenke
& Brett Casey
