Haploinsufficiency of the human homeobox gene ALX4 causes skull
ossification defectspp17 - 18 Lampros A. Mavrogiannis, Ileana Antonopoulou, Alica Baxová, Stepán Kutílek, Chong A. Kim, Sofia M. Sugayama, Alberto Salamanca, Steven A. Wall, Gillian M. Morriss-Kay
& Andrew O.M. Wilkie doi:10.1038/83703 Abstract|Full text|PDF
(250K)
|Supplementary Information
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome
is the human equivalent of mouse scurfypp18 - 20 Robert S. Wildin, Fred Ramsdell, Jane Peake, Francesca Faravelli, Jean-Laurent Casanova, Neil Buist, Ephrat Levy-Lahad, Massimo Mazzella, Olivier Goulet, Lucia Perroni, Franca Dagna Bricarelli, Geoffrey Byrne, Mark McEuen, Sean Proll, Mark Appleby
& Mary E. Brunkow doi:10.1038/83707 Abstract|Full text|PDF
(146K)
|Supplementary Information
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3pp20 - 21 Craig L. Bennett, Jacinda Christie, Fred Ramsdell, Mary E. Brunkow, Polly J. Ferguson, Luke Whitesell, Thaddeus E. Kelly, Frank T. Saulsbury, Phillip F. Chance
& Hans D. Ochs doi:10.1038/83713 Abstract|Full text|PDF
(44K)
Dominant effector genetics in mammalian cellspp23 - 29 Xiang Xu, Cindy Leo, Yngju Jang, Eva Chan, David Padilla, Betty C.B. Huang, Tong Lin, Tarikere Gururaja, Yasumichi Hitoshi, James B. Lorens, David C. Anderson, Branimir Sikic, Ying Luo, Donald G. Payan
& Garry P. Nolan doi:10.1038/83717 Abstract|Full text|PDF
(1,196K)
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Loss of genomic methylation causes p53-dependent apoptosis and epigenetic
deregulationpp31 - 39 Laurie Jackson-Grusby, Caroline Beard, Richard Possemato, Matthew Tudor, Douglas Fambrough, Györgyi Csankovszki, Jessica Dausman, Peggy Lee, Christopher Wilson, Eric Lander
& Rudolf Jaenisch doi:10.1038/83730 Abstract|Full text|PDF
(792K)
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A biochemical function for attractin in agouti-induced pigmentation and
obesitypp40 - 47 Lin He, Teresa M. Gunn, Donna M. Bouley, Xin-Yun Lu, Stanley J. Watson, Stuart F. Schlossman, Jonathan S. Duke-Cohan
& Gregory S. Barsh doi:10.1038/83741 Abstract|Full text|PDF
(438K)
|Supplementary Information
Transcriptional regulation and function during the human cell cyclepp48 - 54 Raymond J. Cho, Mingxia Huang, Michael J. Campbell, Helin Dong, Lars Steinmetz, Lisa Sapinoso, Garret Hampton, Stephen J. Elledge, Ronald W. Davis
& David J. Lockhart doi:10.1038/83751 Abstract|Full text|PDF
(332K)
A mechanism for exon skipping caused by nonsense or missense mutations
in BRCA1 and other genespp55 - 58 Hong-Xiang Liu, Luca Cartegni, Michael Q. Zhang
& Adrian R. Krainer doi:10.1038/83762 Abstract|Full text|PDF
(85K)
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Insertion of -satellite repeats identifies a transmembrane protease
causing both congenital and childhood onset autosomal recessive deafnesspp59 - 63 Hamish S. Scott, Jun Kudoh, Marie Wattenhofer, Kazunori Shibuya, Asher Berry, Roman Chrast, Michel Guipponi, Jun Wang, Kazuhiko Kawasaki, Shuichi Asakawa, Shinsei Minoshima, Farah Younus, S. Qasim Mehdi, Uppala Radhakrishna, Marie-Pierre Papasavvas, Corinne Gehrig, Colette Rossier, Michael Korostishevsky, Andreas Gal, Nobuyoshi Shimizu, Batsheva Bonne-Tamir
& Stylianos E. Antonarakis doi:10.1038/83768 Abstract|Full text|PDF
(425K)
|Supplementary Information
The function of a stem-loop in telomerase RNA is linked to the DNA repair
protein Kupp64 - 67 Suzanne E. Peterson, Anne E. Stellwagen, Scott J. Diede, Miriam S. Singer, Zara W. Haimberger, Catherine O. Johnson, Monika Tzoneva
& Daniel E. Gottschling doi:10.1038/83778 Abstract|Full text|PDF
(573K)
Disruption of a new forkhead/winged-helix protein, scurfin, results in
the fatal lymphoproliferative disorder of the scurfy mousepp68 - 73 Mary E. Brunkow, Eric W. Jeffery, Kathryn A. Hjerrild, Bryan Paeper, Lisa B. Clark, Sue-Ann Yasayko, J. Erby Wilkinson, David Galas, Steven F. Ziegler
& Fred Ramsdell doi:10.1038/83784 Abstract|Full text|PDF
(117K)
|Supplementary Information
Vitamin A controls epithelial/mesenchymal interactions through Ret expressionpp74 - 78 Ekatherina Batourina, Suzanna Gim, Natalie Bello, Michael Shy, Margaret Clagett-Dame, Shankar Srinivas, Frank Costantini
& Cathy Mendelsohn doi:10.1038/83792 Abstract|Full text|PDF
(514K)
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorptionpp79 - 83 Mi-Hye Lee, Kangmo Lu, Star Hazard, Hongwei Yu, Sergey Shulenin, Hideki Hidaka, Hideto Kojima, Rando Allikmets, Nagahiko Sakuma, Rosemary Pegoraro, Anand K. Srivastava, Gerald Salen, Michael Dean
& Shailendra B. Patel doi:10.1038/83799 Abstract|Full text|PDF
(185K)
Bone morphogenetic protein-3 is a negative regulator of bone densitypp84 - 88 Aaron Daluiski, Thomas Engstrand, Matthew E. Bahamonde, Laura W. Gamer, Eric Agius, Sharon L. Stevenson, Karen Cox, Vicki Rosen
& Karen M. Lyons doi:10.1038/83810 Abstract|Full text|PDF
(596K)
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophypp89 - 93 Kang Zhang, Marina Kniazeva, Min Han, Wen Li, Zhengya Yu, Zhenglin Yang, Yang Li, Michael L. Metzker, Rando Allikmets, Donald J. Zack, Laura E. Kakuk, Pamela S. Lagali, Paul W. Wong, Ian M. MacDonald, Paul A. Sieving, David J. Figueroa, Christopher P. Austin, Robert J. Gould, Radha Ayyagari
& Konstantin Petrukhin doi:10.1038/83817 Abstract|Full text|PDF
(371K)
A thyroid hormone receptor that is required for the development of green
cone photoreceptorspp94 - 98 Lily Ng, James B. Hurley, Blair Dierks, Maya Srinivas, Carmen Saltó, Björn Vennström, Thomas A. Reh
& Douglas Forrest doi:10.1038/83829 Abstract|Full text|PDF
(581K)
|Supplementary Information
The mouse Ames waltzer hearing-loss mutant is caused by mutation of
Pcdh15, a novel protocadherin genepp99 - 102 Kumar N. Alagramam, Crystal L. Murcia, Heajoon Y. Kwon, Karen S. Pawlowski, Charles G. Wright
& Richard P. Woychik doi:10.1038/83837 Abstract|Full text|PDF
(1,095K)
|Supplementary Information
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia
disorganization in waltzer, the mouse model for Usher syndrome type 1Dpp103 - 107 Federica Di Palma, Ralph H. Holme, Elizabeth C. Bryda, Inna A. Belyantseva, Richard Pellegrino, Bechara Kachar, Karen P. Steel
& Konrad Noben-Trauth doi:10.1038/83660 Abstract|Full text|PDF
(783K)
|Supplementary Information
Mutation of CDH23, encoding a new member of the cadherin gene
family, causes Usher syndrome type 1Dpp108 - 112 Hanno Bolz, Benigna von Brederlow, Alfredo Ramírez, Elizabeth C. Bryda, Kerstin Kutsche, Hans Gerd Nothwang, Mathias Seeliger, Maria del C.-Salcedó Cabrera, Manuel Caballeró Vila, Orfilio Pelaez Molina, Andreas Gal
& Christian Kubisch doi:10.1038/83667 Abstract|Full text|PDF
(420K)
|Supplementary Information
SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombinationpp113 - 116 Kyungjae Myung, Abhijit Datta, Clark Chen
& Richard D. Kolodner doi:10.1038/83673 Abstract|Full text|PDF
(58K)
Mutations in GFAP, encoding glial fibrillary acidic protein, are
associated with Alexander diseasepp117 - 120 Michael Brenner, Anne B. Johnson, Odile Boespflug-Tanguy, Diana Rodriguez, James E. Goldman
& Albee Messing doi:10.1038/83679 Abstract|Full text|PDF
(152K)
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Lipodystrophy in the fld mouse results from mutation of a new
gene encoding a nuclear protein, lipinpp121 - 124 Miklós Péterfy, Jack Phan, Ping Xu
& Karen Reue doi:10.1038/83685 Abstract|Full text|PDF
(638K)
|Supplementary Information
3
-satellite repeats identifies a transmembrane protease
causing both congenital and childhood onset autosomal recessive deafness
