Failure of adipocyte differentiation causes type II diabetes mellitus?p13 Elliot Danforth Jr doi:10.1038/79111 Full text|PDF
(68K)
Sampling SNPspp13 - 14 Zhiyong Yang, Gane Ka-Shu Wong, Michael A. Eberle, Miho Kibukawa, Douglas A. Passey, William R. Hughes, Leonid Kruglyak
& Jun Yu doi:10.1038/79113 Full text|PDF
(73K)
Mutations in MKKS cause Bardet-Biedl syndromepp15 - 16 Anne M. Slavotinek, Edwin M. Stone, Kirk Mykytyn, John R. Heckenlively, Jane S. Green, Elise Heon, Maria A. Musarella, Patrick S. Parfrey, Val C. Sheffield
& Leslie G. Biesecker doi:10.1038/79116 Abstract|Full text|PDF
(153K)
Methylation of the CDH1 promoter as the second genetic hit in
hereditary diffuse gastric cancerpp16 - 17 William M. Grady, Joseph Willis, Parry J. Guilford, Anita K. Dunbier, Tumi T. Toro, Henry Lynch, Georgia Wiesner, Kelly Ferguson, Charis Eng, Jae-Gahb Park, Seong-Jin Kim
& Sanford Markowitz doi:10.1038/79120 Abstract|Full text|PDF
(497K)
A putative pheromone receptor gene expressed in human olfactory mucosa
pp18 - 19 Ivan Rodriguez, Charles A. Greer, Mai Y. Mok
& Peter Mombaerts doi:10.1038/79124 Abstract|Full text|PDF
(136K)
Domain-specific mutations in TGFB1 result in Camurati-Engelmann
diseasepp19 - 20 Akira Kinoshita, Takashi Saito, Hiro-aki Tomita, Yoshio Makita, Kunihiro Yoshida, Mohsen Ghadami, Koki Yamada, Shinji Kondo, Shiro Ikegawa, Gen Nishimura, Yoshimitsu Fukushima, Tadashi Nakagomi, Haruki Saito, Takeo Sugimoto, Makoto Kamegaya, Kenji Hisa, Jeffrey C. Murray, Naoyuki Taniguchi, Norio Niikawa
& Koh-ichiro Yoshiura doi:10.1038/79128 Abstract|Full text|PDF
(343K)
A transactivation-deficient mouse model provides insights into Trp53 regulation and functionpp37 - 43 Gretchen S. Jimenez, Monica Nister, Jayne M. Stommel, Michelle Beeche, Erin A. Barcarse, Xiao-Qun Zhang, Stephen O'Gorman
& Geoffrey M. Wahl doi:10.1038/79152 Abstract|Full text|PDF
(750K)
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or humanpp44 - 50 Duong P. Huynh, Karla Figueroa, Nam Hoang
& Stefan-M. Pulst doi:10.1038/79162 Abstract|Full text|PDF
(1,039K)
A defect in harmonin, a PDZ domain-containing protein expressed in the
inner ear sensory hair cells, underlies Usher syndrome type 1Cpp51 - 55 Elisabeth Verpy, Michel Leibovici, Ingrid Zwaenepoel, Xue-Zhong Liu, Andreas Gal, Nabiha Salem, Ahmad Mansour, Stéphane Blanchard, Ichiro Kobayashi, Bronya J.B. Keats, Rima Slim
& Christine Petit doi:10.1038/79171 Abstract|Full text|PDF
(352K)
|Supplementary Information See also:News and Views by Montell
A recessive contiguous gene deletion causing infantile hyperinsulinism,
enteropathy and deafness identifies the Usher type 1C genepp56 - 60 Maria Bitner-Glindzicz, Keith J. Lindley, Paul Rutland, Diana Blaydon, Virpi V. Smith, Peter J. Milla, Khalid Hussain, Judith Furth-Lavi, Karen E. Cosgrove, Ruth M. Shepherd, Philippa D. Barnes, Rachel E. O'Brien, Peter A. Farndon, Jane Sowden, Xue-Zhong Liu, Matthew J. Scanlan, Sue Malcolm, Mark J. Dunne, Albert Aynsley-Green
& Benjamin Glaser doi:10.1038/79178 Abstract|Full text|PDF
(542K)
|Supplementary Information See also:News and Views by Montell
Large-scale human promoter mapping using CpG islandspp61 - 63 Ilya P. Ioshikhes
& Michael Q. Zhang doi:10.1038/79189 Abstract|Full text|PDF
(77K)
In vivo selection using a cell-growth switchpp64 - 66 Liqing Jin, Hui Zeng, Sylvia Chien, Kevin G. Otto, Robert E. Richard, David W. Emery
& C. Anthony Blau doi:10.1038/79194 Abstract|Full text|PDF
(228K)
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromepp67 - 70 Nicholas Katsanis, Philip L. Beales, Michael O. Woods, Richard A. Lewis, Jane S. Green, Patrick S. Parfrey, Stephen J. Ansley, William S. Davidson
& James R. Lupski doi:10.1038/79201 Abstract|Full text|PDF
(114K)
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingpp71 - 75 Annabel N. Smith, Jennifer Skaug, Keith A. Choate, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sally A. Hulton, Sami A. Sanjad, Essam A. Al-Sabban, Richard P. Lifton, Stephen W. Scherer
& Fiona E. Karet doi:10.1038/79208 Abstract|Full text|PDF
(693K)
The common PPAR Pro12Ala polymorphism is associated with decreased risk of type 2 diabetespp76 - 80 David Altshuler, Joel N. Hirschhorn, Mia Klannemark, Cecilia M. Lindgren, Marie-Claude Vohl, James Nemesh, Charles R. Lane, Stephen F. Schaffner, Stacey Bolk, Carl Brewer, Tiinamaija Tuomi, Daniel Gaudet, Thomas J. Hudson, Mark Daly, Leif Groop
& Eric S. Lander doi:10.1038/79216 Abstract|Full text|PDF
(102K)
Heterozygous germline mutations in BMPR2, encoding a TGF-
receptor, cause familial primary pulmonary hypertensionpp81 - 84 Kirk B. Lane, Rajiv D. Machado, Michael W. Pauciulo, Jennifer R. Thomson, John A. Phillips, James E. Loyd, William C. Nichols
& Richard C. Trembath doi:10.1038/79226 Abstract|Full text|PDF
(504K)
|Supplementary Information See also:News and Views by Scott
Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing
radiationpp85 - 88 Kwok-Kin Wong, Sandy Chang, Sarah R. Weiler, Shridar Ganesan, Jayanta Chaudhuri, Chengming Zhu, Steven E. Artandi, Karl Lenhard Rudolph, Geoffrey J. Gottlieb, Lynda Chin, Frederick W. Alt
& Ronald A. DePinho doi:10.1038/79232 Abstract|Full text|PDF
(722K)
Mutations of the gene encoding the protein kinase A type I- regulatory
subunit in patients with the Carney complexpp89 - 92 Lawrence S. Kirschner, J. Aidan Carney, Svetlana D. Pack, Susan E. Taymans, Christoforos Giatzakis, Yee Sook C, Yoon S. Cho-Chung
& Constantine A. Stratakis doi:10.1038/79238 Abstract|Full text|PDF
(268K)
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated
with human RELN mutationspp93 - 96 Susan E. Hong, Yin Yao Shugart, David T. Huang, Saad Al Shahwan, P. Ellen Grant, Jonathan O'B. Hourihane, Neil D.T. Martin
& Christopher A. Walsh doi:10.1038/79246 Abstract|Full text|PDF
(361K)
Inactivation of the mouse melanocortin-3 receptor results in increased
fat mass and reduced lean body masspp97 - 102 Airu S. Chen, Donald J. Marsh, Myrna E. Trumbauer, Easter G. Frazier, Xiao-Ming Guan, Hong Yu, Charles I. Rosenblum, Aurawan Vongs, Yue Feng, Linhai Cao, Joseph M. Metzger, Alison M. Strack, Ramon E. Camacho, Theodore N. Mellin, Christian N. Nunes, William Min, Jill Fisher, Shobhna Gopal-Truter, D. Euan MacIntyre, Howard Y. Chen
& Lex H.T. Van der Ploeg doi:10.1038/79254 Abstract|Full text|PDF
(341K)
See also:News and Views by Cummings & Schwartz
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner
and Sebastian syndromespp103 - 105
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomalypp106 - 108 Michael J. Kelley, William Jawien, Thomas L. Ortel
& Jeannette F. Korczak doi:10.1038/79069 Abstract|Full text|PDF
(142K)
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effectspp109 - 113 Karlyne M. Reilly, Dagan A. Loisel, Roderick T. Bronson, Margaret E. McLaughlin
& Tyler Jacks doi:10.1038/79075 Abstract|Full text|PDF
(861K)
|Supplementary Information
Telomerase-deficient mice with short telomeres are resistant to skin tumorigenesispp114 - 117 Eva González-Suárez, Enrique Samper, Juana M. Flores
& María A. Blasco doi:10.1038/79089 Abstract|Full text|PDF
(1,432K)
Identification of the gene causing mucolipidosis type IVpp118 - 123 Ruth Bargal, Nili Avidan, Edna Ben-Asher, Zvia Olender, Marcia Zeigler, Ayala Frumkin, Annick Raas-Rothschild, Gustavo Glusman, Doron Lancet
& Gideon Bach doi:10.1038/79095 Abstract|Full text|PDF
(434K)
|Supplementary Information
Pidd, a new death-domain−containing protein, is induced by p53
and promotes apoptosispp122 - 127 Yunping Lin, Weili Ma
& Samuel Benchimol doi:10.1038/79102 Abstract|Full text|PDF
(233K)
Neurofibrillary tangles, amyotrophy and progressive motor disturbance
in mice expressing mutant (P301L) tau proteinp127 doi:10.1038/79109 Full text|PDF
(53K)
Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
receptor, cause familial primary pulmonary hypertension
regulatory
subunit in patients with the Carney complex
