A common nonsense mutation results in -actinin-3 deficiency in the general populationpp353 - 354 Kathryn N. North, Nan Yang, Duangrurdee Wattanasirichaigoon, Michelle Mills, Simon Easteal
& Alan H. Beggs doi:10.1038/7675 Full text|PDF
(480K)
A mutation in NRL is associated with autosomal dominant retinitis pigmentosapp355 - 356 David A.R. Bessant, Annette M. Payne, Kenneth P. Mitton, Qing-Liang Wang, Prabodha K. Swain, Catherine Plant, Alan C. Bird, Donald J. Zack, Anand Swaroop
& Shomi S. Bhattacharya doi:10.1038/7678 Full text|PDF
(137K)
Counting the repetitive kringle-IV repeats in the gene encoding human
apolipoprotein(a) by fibre-FISHpp357 - 358 Martin Erdel, Michael Hubalek, Arno Lingenhel, Kurt Kofler, Hans-C Duba
& Gerd Utermann doi:10.1038/7681 Full text|PDF
(141K)
Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in micepp359 - 360 Carrolee Barlow, Michael A. Eckhaus, Alejandro A. Schäffer
& Anthony Wynshaw-Boris doi:10.1038/7684 Full text|PDF
(79K)
Loss of information due to ambiguous haplotyping of SNPspp360 - 361 Susan E. Hodge, Michael Boehnke
& M. Anne Spence doi:10.1038/7687 Full text|PDF
(69K)
Genetic determinism and the overprotection of human subjectsp362 Allen J. Wilcox, Jack A. Taylor, Richard R. Sharp
& Stephanie J. London doi:10.1038/7692 Full text|PDF
(34K)
A mutation in OTOF, encoding otoferlin, a FER-1-like protein,
causes DFNB9, a nonsyndromic form of deafnesspp363 - 369 Shin'ichiro Yasunaga, M'hamed Grati, Martine Cohen-Salmon, Aziz El-Amraoui, Mirna Mustapha, Nabiha Salem, Elie El-Zir, Jacques Loiselet
& Christine Petit doi:10.1038/7693 Abstract|Full text|PDF
(261K)
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A human IFNGR1 small deletion hotspot associated with dominant
susceptibility to mycobacterial infectionpp370 - 378 Emmanuelle Jouanguy, Salma Lamhamedi-Cherradi, David Lammas, Susan E. Dorman, Marie-Claude Fondanèche, Stéphanie Dupuis, Rainer Döffinger, Frédéric Altare, John Girdlestone, Jean-François Emile, Henri Ducoulombier, David Edgar, Jane Clarke, Vivi-Anne Oxelius, Melchiorre Brai, Vas Novelli, Klaus Heyne, Alain Fischer, Steven M Holland, Dinakantha S Kumararatne, Robert D. Schreiber
& Jean-Laurent Casanova doi:10.1038/7701 Abstract|Full text|PDF
(326K)
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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)pp379 - 384 Michael D. Koob, Melinda L. Moseley, Lawrence J. Schut, Kellie A. Benzow, Thomas D. Bird, John W. Day
& Laura P.W. Ranum doi:10.1038/7710 Abstract|Full text|PDF
(148K)
Comparative genomes of Chlamydia pneumoniae and C. trachomatis
pp385 - 389 Sue Kalman, Wayne Mitchell, Rekha Marathe, Claudia Lammel, Jun Fan, Richard W Hyman, Lynn Olinger, Jane Grimwood, Ronald W Davis
& Richard Stephens doi:10.1038/7716 Abstract|Full text|PDF
(241K)
|Supplementary Information
Independent regulation of the two Pax5 alleles during B-cell development
pp390 - 395 Stephen L Nutt, Susanne Vambrie, Peter Steinlein, Zbynek Kozmik, Antonius Rolink, Andreas Weith
& Meinrad Busslinger doi:10.1038/7720 Abstract|Full text|PDF
(283K)
Transferrin receptor is necessary for development of erythrocytes and
the nervous systempp396 - 399 Joanne E. Levy, Ou Jin, Yuko Fujiwara, Frank Kuo
& Nancy Andrews doi:10.1038/7727 Abstract|Full text|PDF
(315K)
Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice
pp405 - 409 Bo Chang, Richard S Smith, Norman L Hawes, Michael G Anderson, Adriana Zabaleta, Olga Savinova, Thomas H Roderick, John R. Heckenlively, Muriel T Davisson
& Simon W M John doi:10.1038/7741 Abstract|Full text|PDF
(615K)
A common human skin tumour is caused by activating mutations in -catenin
pp410 - 413 Edward Chan, Uri Gat, Jennifer M McNiff
& Elaine Fuchs doi:10.1038/7747 Abstract|Full text|PDF
(362K)
The complete family of genes encoding G proteins of Caenorhabditis
eleganspp414 - 419 Gert Jansen, Karen L Thijssen, Pia Werner, Marieke van derHorst, Esther Hazendonk
& Ronald H Plasterk doi:10.1038/7753 Abstract|Full text|PDF
(253K)
A novel endothelial-derived lipase that modulates HDL metabolismpp424 - 428 Michael Jaye, Kevin J. Lynch, John Krawiec, Dawn Marchadier, Cyrille Maugeais, Kim Doan, Victoria South, Dilip Amin, Mark Perrone
& Daniel J. Rader doi:10.1038/7766 Abstract|Full text|PDF
(258K)
Retroposition of autosomal mRNA yielded testis-specific gene family on
human Y chromosomepp429 - 433 Bruce T Lahn
& David C Page doi:10.1038/7771 Abstract|Full text|PDF
(363K)
The gene encoding proline dehydrogenase modulates sensorimotor gating
in micepp434 - 439 Joseph Gogos, Miklos Santha, Zoltan Takacs, Kevin D Beck, Victoria Luine, Louis R Lucas, J. Victor Nadler
& Maria Karayiorgou doi:10.1038/7777 Abstract|Full text|PDF
(629K)
The Pendred syndrome gene encodes a chloride-iodide transport protein
pp440 - 443 Daryl A. Scott, Rong Wang, Trisha M Kreman, Val C. Sheffield
& Lawrence P Karniski doi:10.1038/7783 Abstract|Full text|PDF
(64K)
Embryonic retinoic acid synthesis is essential for early mouse post-implantation
developmentpp444 - 448 Karen Niederreither, Vemparala Subbarayan, Pascal Dollé
& Pierre Chambon doi:10.1038/7788 Abstract|Full text|PDF
(469K)
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-actinin-3 deficiency in the general population
-catenin
