Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletionspp211 - 212 Gert Van Goethem, Bart Dermaut, Ann Löfgren, Jean-Jacques Martin
& Christine Van Broeckhoven doi:10.1038/90034 Abstract|Full text|PDF
(378K)
|Supplementary Information See also:News and Views by Moraes
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosispp213 - 214 Omer T. Njajou, Norbert Vaessen, Marijke Joosse, Bianca Berghuis, Jeroen W.F. van Dongen, Martijn H. Breuning, Pieter J.L.M. Snijders, Wim P.F. Rutten, Lodewijk A. Sandkuijl, Ben A. Oostra, Cornelia M. van Duijn
& Peter Heutink doi:10.1038/90038 Abstract|Full text|PDF
(1,093K)
|Supplementary Information
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humanspp214 - 216 Sanjay M. Sisodiya, Samantha L. Free, Kathleen A. Williamson, Tejal N. Mitchell, Catherine Willis, John M. Stevens, Brian E. Kendall, Simon D. Shorvon, Isabel M. Hanson, Anthony T. Moore
& Veronica van Heyningen doi:10.1038/90042 Abstract|Full text|PDF
(1,690K)
Sox9 induces testis development in XX transgenic micepp216 - 217 Valerie P.I. Vidal, Marie-Christine Chaboissier, Dirk G. de Rooij
& Andreas Schedl doi:10.1038/90046 Abstract|Full text|PDF
(3,837K)
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseasepp218 - 219 Regina C. Betz, Benedikt G. H. Schoser, Dagmar Kasper, Kenneth Ricker, Alfredo Ramírez, Valentin Stein, Torberg Torbergsen, Young-Ae Lee, Markus M. Nöthen, Thomas F. Wienker, Jean-Pierre Malin, Peter Propping, André Reis, Wilhelm Mortier, Thomas J. Jentsch, Matthias Vorgerd
& Christian Kubisch doi:10.1038/90050 Abstract|Full text|PDF
(1,059K)
|Supplementary Information
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemiapp220 - 221 Zhigui Ma, Stephan W. Morris, Virginia Valentine, Martin L, Jo-Anne Herbrick, Xiaoli Cui, Derek Bouman, Yue Li, Perdeep K. Mehta, Dean Nizetic, Yasuhiko Kaneko, Godfrey C.F. Chan, Li C. Chan, Jeremy Squire, Stephen W. Scherer
& Johann K. Hitzler doi:10.1038/90054 Abstract|Full text|PDF
(926K)
|Supplementary Information
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriapp223 - 231 Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti, Kaisu Nikali, Qiu-Ping Yuan, Muhammed Tariq, Sjoerd Wanrooij, Nuria Garrido, Giacomo Comi, Lucia Morandi, Lucio Santoro, Antonio Toscano, Gian-Maria Fabrizi, Hannu Somer, Rebecca Croxen, David Beeson, Joanna Poulton, Anu Suomalainen, Howard T Jacobs, Massimo Zeviani
& Catharina Larsson doi:10.1038/90058 Abstract|Full text|PDF
(5,408K)
|Supplementary Information See also:News and Views by Moraes
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in micepp232 - 240 Jan Bressler, Ting-Fen Tsai, Mei-Yi Wu, Shih-Feng Tsai, Maricela A. Ramirez, Dawna Armstrong
& Arthur L. Beaudet doi:10.1038/90067 Abstract|Full text|PDF
(1,936K)
Functional analysis of secreted and transmembrane proteins critical to mouse developmentpp241 - 249 Kevin J. Mitchell, Kathy I. Pinson, Olivia G. Kelly, Jane Brennan, Joel Zupicich, Paul Scherz, Philip A. Leighton, Lisa V. Goodrich, Xiaowei Lu, Brian J. Avery, Peri Tate, Kariena Dill, Edivinia Pangilinan, Paul Wakenight, Marc Tessier-Lavigne
& William C. Skarnes doi:10.1038/90074 Abstract|Full text|PDF
(2,917K)
|Supplementary Information See also:News and Views by Jackson
Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tailpp251 - 255 Zoha Kibar, Kyle J. Vogan, Normand Groulx, Monica J. Justice, D. Alan Underhill
& Philippe Gros doi:10.1038/90081 Abstract|Full text|PDF
(5,273K)
A photic visual cycle of rhodopsin regeneration is dependent on Rgrpp256 - 260 Pu Chen, Wenshan Hao, Lawrence Rife, Xiao Peng Wang, Daiwei Shen, Jeannie Chen, Thomas Ogden, Gretchen B. Van Boemel, Lanyin Wu, Mao Yang
& Henry K.W. Fong doi:10.1038/90089 Abstract|Full text|PDF
(359K)
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndromepp261 - 265 John A. Martignetti, Aida Al Aqeel, Wafaa Al Sewairi, Christine E. Boumah, Marios Kambouris, S. Al Mayouf, K.V. Sheth, W. Al Eid, Oonagh Dowling, Juliette Harris, Marc J. Glucksman, Sultan Bahabri, Brian F. Meyer
& Robert J. Desnick doi:10.1038/90100 Abstract|Full text|PDF
(1,202K)
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Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesispp266 - 271 Xiaoling Xu, Wenhui Qiao, Steven P. Linke, Liu Cao, Wen-Mei Li, Priscilla A. Furth, Curtis C. Harris
& Chu-Xia Deng doi:10.1038/90108 Abstract|Full text|PDF
(5,938K)
Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondriapp272 - 275 Tomoko Ono, Kotoyo Isobe, Kazuto Nakada
& Jun-Ichi Hayashi doi:10.1038/90116 Abstract|Full text|PDF
(946K)
Universal trees based on large combined protein sequence data setspp281 - 285 James R. Brown, Christophe J. Douady, Michael J. Italia, William E. Marshall
& Michael J. Stanhope doi:10.1038/90129 Abstract|Full text|PDF
(114K)
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Dwarf8 polymorphisms associate with variation in flowering timepp286 - 289 Jeffry M. Thornsberry, Major M. Goodman, John Doebley, Stephen Kresovich, Dahlia Nielsen
& Edward S. Buckler IV doi:10.1038/90135 Abstract|Full text|PDF
(1,029K)
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Regulation of premeiotic S phase and recombination-related double-strand DNA breaks during meiosis in fission yeastpp290 - 293 Hiroshi Murakami
& Paul Nurse doi:10.1038/90142 Abstract|Full text|PDF
(1,031K)
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromaspp294 - 296 Eduard Serra, Thorsten Rosenbaum, Marga Nadal, Ursula Winner, Elisabet Ars, Xavier Estivill
& Conxi Lázaro doi:10.1038/90148 Abstract|Full text|PDF
(5,377K)
