Absence of genome-wide changes in DNA methylation during development of the zebrafishpp139 - 140 Donald Macleod, Victoria H. Clark
& Adrian Bird doi:10.1038/13767 Full text|PDF
(162K)
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model
for limb girdle muscular dystrophy 2Bpp141 - 142 Reginald E. Bittner, Louise V.B. Anderson, Elke Burkhardt, Rumaisa Bashir, Elizabeth Vafiadaki, Silva Ivanova, Thomas Raffelsberger, Isabel Maerk, Harald Höger, Martin Jung, Mohsen Karbasiyan, Maria Storch, Hans Lassmann, Jennifer A. Moss, Keith Davison, Ruth Harrison, Kate M.D. Bushby
& André Reis doi:10.1038/13770 Full text|PDF
(305K)
Familial endometrial cancer in female carriers of MSH6 germline mutationspp142 - 144 Juul Wijnen, Wiljo de Leeuw, Hans Vasen, Heleen van der Klift, Pål Møller, Astrid Stormorken, Hanne Meijers-Heijboer, Dick Lindhout, Fred Menko, Sandra Vossen, Gabriela Möslein, Carli Tops, Annette Bröcker-Vriends, Ying Wu, Robert Hofstra, Rolf Sijmons, Cees Cornelisse, Hans Morreau
& Riccardo Fodde doi:10.1038/13773 Full text|PDF
(171K)
|Supplementary Information
The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemiapp144 - 146 Lucio H. Castilla, Lisa Garrett, Neeraj Adya, Donald Orlic, Amalia Dutra, Stacie Anderson, Jennie Owens, Michael Eckhaus, David Bodine
& P. Paul Liu doi:10.1038/13776 Full text|PDF
(1,263K)
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNAp147 Richard M. Andrews, Iwona Kubacka, Patrick F. Chinnery, Robert N. Lightowlers, Douglass M. Turnbull
& Neil Howell doi:10.1038/13779 Full text|PDF
(70K)
Structural genomics: beyond the Human Genome Projectpp151 - 157 Stephen K Burley, Steven C Almo, Jeffrey B Bonanno, Malcolm Capel, Mark R Chance, Terry Gaasterland, Dawei Lin, Andrej ali, F. William Studier
& Subramanyam Swaminathan doi:10.1038/13783 Abstract|Full text|PDF
(347K)
Fv2 encodes a truncated form of the Stk receptor tyrosine kinase
pp159 - 165 Derek A. Persons, Robert F. Paulson, Melanie R. Loyd, Mark T. Herley, Sara M. Bodner, Alan Bernstein, Pamela H. Correll
& Paul A. Ney doi:10.1038/13787 Abstract|Full text|PDF
(1,401K)
See also:News and Views by Schwartzberg
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with
propensity to develop acute myelogenous leukaemiapp166 - 175 Woo-Joo Song, Melanie G. Sullivan, Robert D. Legare, Sarah Hutchings, Xiaolian Tan, Dubravka Kufrin, Janina Ratajczak, Isabel C. Resende, Catherine Haworth, Randy Hock, Mignon Loh, Carolyn Felix, Denis-Claude Roy, Lambert Busque, David Kurnit, Cheryl Willman, Alan M. Gewirtz, Nancy A. Speck, John H. Bushweller, Frederick P. Li, Katheleen Gardiner, Mortimer Poncz, John M. Maris
& D. Gary Gilliland doi:10.1038/13793 Abstract|Full text|PDF
(986K)
|Supplementary Information See also:News and Views by Cleary
Genomic instability in Gadd45a-deficient micepp176 - 184 M. Christine Hollander, M. Saeed Sheikh, Dmitry V. Bulavin, Karen Lundgren, Laura Augeri-Henmueller, Ronald Shehee, Thomas A. Molinaro, Kate E. Kim, Eva Tolosa, Jonathan D. Ashwell, Michael P. Rosenberg, Qimin Zhan, Pedro M. Fernández-Salguero, William F. Morgan, Chu-Xia Deng
& Albert J. Fornace Jr doi:10.1038/13802 Abstract|Full text|PDF
(1,305K)
Rett syndrome is caused by mutations in X-linked MECP2, encoding
methyl-CpG-binding protein 2pp185 - 188 Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan, Charles Q. Tran, Uta Francke
& Huda Y. Zoghbi doi:10.1038/13810 Abstract|Full text|PDF
(1,178K)
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Truncating mutations in CCM1, encoding KRIT1, cause hereditary
cavernous angiomaspp189 - 193 Sophie Laberge-le Couteulx, Hans H. Jung, Pierre Labauge, Jean-Pierre Houtteville, Christelle Lescoat, Michaelle Cecillon, Emmanuelle Marechal, Anne Joutel, Jean-François Bach
& Elisabeth Tournier-Lasserve doi:10.1038/13815 Abstract|Full text|PDF
(714K)
Mre11 and Ku70 interact in somatic cells, but are differentially expressed
in early meiosispp194 - 198 Wolfgang Goedecke, Maureen Eijpe, Hildo H. Offenberg, Mirjam van Aalderen
& Christa Heyting doi:10.1038/13821 Abstract|Full text|PDF
(880K)
See also:News and Views by Lustig
Disruption of the mouse necdin gene results in early post-natal lethality
pp199 - 202 Matthieu Gérard, Lidia Hernandez, Rachel Wevrick
& Colin L. Stewart doi:10.1038/13828 Abstract|Full text|PDF
(1,137K)
See also:News and Views by Nicholls
Genome-wide mapping with biallelic markers in Arabidopsis thaliana
pp203 - 207 Raymond J. Cho, Michael Mindrinos, Daniel R. Richards, Ronald J. Sapolsky, Mary Anderson, Eliana Drenkard, Julia Dewdney, T. Lynne Reuber, Melanie Stammers, Nancy Federspiel, Athanasios Theologis, Wei-Hsien Yang, Earl Hubbell, Melinda Au, Edward Y. Chung, Deval Lashkari, Bertrand Lemieux, Caroline Dean, Robert J. Lipshutz, Frederick M. Ausubel, Ronald W. Davis
& Peter J. Oefner doi:10.1038/13833 Abstract|Full text|PDF
(161K)
Mutations in the skeletal muscle -actin gene in patients with actin myopathy and nemaline myopathypp208 - 212 Kristen J. Nowak, Duangrurdee Wattanasirichaigoon, Hans H. Goebel, Matthew Wilce, Katarina Pelin, Kati Donner, Rebecca L. Jacob, Christoph Hübner, Konrad Oexle, Janice R. Anderson, Christopher M. Verity, Kathryn N. North, Susan T. Iannaccone, Clemens R. Müller, Peter Nürnberg, Francesco Muntoni, Caroline Sewry, Imelda Hughes, Rebecca Sutphen, Atilano G. Lacson, Kathryn J. Swoboda, Jaqueline Vigneron, Carina Wallgren-Pettersson, Alan H. Beggs
& Nigel G. Laing doi:10.1038/13837 Abstract|Full text|PDF
(538K)
Early specification of limb muscle precursor cells by the homeobox gene
Lbx1hpp213 - 216 Konstanze Schäfer
& Thomas Braun doi:10.1038/13843 Abstract|Full text|PDF
(1,199K)
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)pp217 - 221 Anneke I. den Hollander, Jacoline B. ten Brink, Yvette J.M. de Kok, Simone van Soest, L. Ingeborgh van den Born, Marc A. van Driel, Dorien J.R. van de Pol, Annette M. Payne, Shomi S. Bhattacharya, Ulrich Kellner, Carel B. Hoyng, Andries Westerveld, Han G. Brunner, Elisabeth M. Bleeker-Wagemakers, August F. Deutman, John R. Heckenlively, Frans P.M. Cremers
& Arthur A.B. Bergen doi:10.1038/13848 Abstract|Full text|PDF
(561K)
|Supplementary Information
Repression of the gene encoding the TGF- type II receptor is a major target of the EWS-FLI1 oncoproteinpp222 - 227 Ki-Baik Hahm, Keuna Cho, Cecile Lee, Young-Hyuck Im, Jay Chang, Shin-Geon Choi, Poul H.B. Sorensen, Carol J. Thiele
& Seong-Jin Kim doi:10.1038/13854 Abstract|Full text|PDF
(1,085K)
Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic developmentpp228 - 232 Jorge A. Piedrahita, Betty Oetama, Gregory D. Bennett, Janée van Waes, Barton A. Kamen, James Richardson, Stephen W. Lacey, Richard G.W. Anderson
& Richard H. Finnell doi:10.1038/13861 Abstract|Full text|PDF
(734K)
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8pp233 - 236 Susanna Ranta, Yonghui Zhang, Barbara Ross, Liina Lonka, Elina Takkunen, Anne Messer, Julie Sharp, Ruth Wheeler, Kenro Kusumi, Sara Mole, Wencheng Liu, Marcelo Bento Soares, Maria de Fatima Bonaldo, Aune Hirvasniemi, Albert de la Chapelle, T. Conrad Gilliam
& Anna-Elina Lehesjoki doi:10.1038/13868 Abstract|Full text|PDF
(431K)
Susceptibility to testicular germ-cell tumours in a 129.MOLF-Chr 19 chromosome substitution strainpp237 - 240 Angabin Matin, Gayle B. Collin, Yoshinobu Asada, Don Varnum
& Joseph H. Nadeau doi:10.1038/13874 Abstract|Full text|PDF
(373K)
Functional screening of an asthma QTL in YAC transgenic micepp241 - 244 Derek J. Symula, Kelly A. Frazer, Yukihiko Ueda, Patrice Denefle, Mary E. Stevens, Zhi-En Wang, Richard Locksley
& Edward M. Rubin doi:10.1038/13880 Abstract|Full text|PDF
(134K)
Loss of Cul1 results in early embryonic lethality and dysregulation of cyclin Epp245 - 248 Marian J. Dealy, Khanh V.T. Nguyen, Jessica Lo, Matthias Gstaiger, Wilhelm Krek, David Elson, Jeffrey Arbeit, Edward T. Kipreos
& Randall S. Johnson doi:10.1038/13886 Abstract|Full text|PDF
(2,418K)
ali, F. William Studier
& Subramanyam Swaminathan
-actin gene in patients with actin myopathy and nemaline myopathy
type II receptor is a major target of the EWS-FLI1 oncoprotein
