Verification and initial annotation of the NIA mouse 15K cDNA clone setpp17 - 18 George J. Kargul, Dawood B. Dudekula, Yong Qian, Meng K. Lim, Saied A. Jaradat, Tetsuya S. Tanaka, Mark G. Carter
& Minoru S.H. Ko doi:10.1038/ng0501-17 Full text|PDF
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SOCS-1, a negative regulator of the JAK/STAT pathway, is silenced by methylation in human hepatocellular carcinoma and shows growth-suppression activitypp29 - 35 Hirohide Yoshikawa, Kenichi Matsubara, Geng-Sun Qian, Peta Jackson, John D. Groopman, Jasper E. Manning, Curtis C. Harris
& James G. Herman doi:10.1038/ng0501-29 Abstract|Full text|PDF
(554K)
See also:News and Views by Kishimoto & Kikutani
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasiapp37 - 41 Peter Nürnberg, Holger Thiele, David Chandler, Wolfgang Höhne, Michael L. Cunningham, Heide Ritter, Gundula Leschik, Karen Uhlmann, Claudia Mischung, Karen Harrop, Jack Goldblatt, Zvi U. Borochowitz, Dieter Kotzot, Frank Westermann, Stefan Mundlos, Hans-Steffen Braun, Nigel Laing
& Sigrid Tinschert doi:10.1038/ng0501-37 Abstract|Full text|PDF
(758K)
|Supplementary Information
Susceptibility to mouse cytomegalovirus is associated with deletion of an activating natural killer cell receptor of the C-type lectin superfamilypp42 - 45 Seung-Hwan Lee, Sonia Girard, Denis Macina, Maria Busà, Ahmed Zafer, Abdelmajid Belouchi, Philippe Gros
& Silvia M. Vidal doi:10.1038/ng0501-42 Abstract|Full text|PDF
(113K)
|Supplementary Information See also:News and Views by Casanova et al.
First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the 2-subunit genepp46 - 48 Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel-An, Georgia Mitropoulou, Alexandre Beranger, Jean-François Prud'homme, Michel Baulac, Alexis Brice, Roberto Bruzzone
& Eric LeGuern doi:10.1038/ng0501-46 Abstract|Full text|PDF
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Mutant GABAA receptor 2-subunit in childhood absence epilepsy and febrile seizurespp49 - 52 Robyn H. Wallace, Carla Marini, Steven Petrou, Louise A. Harkin, David N. Bowser, Rekha G. Panchal, David A. Williams, Grant R. Sutherland, John C. Mulley, Ingrid E. Scheffer
& Samuel F. Berkovic doi:10.1038/ng0501-49 Abstract|Full text|PDF
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-catenin−sensitive isoforms of lymphoid enhancer factor-1 are selectively expressed in colon cancerpp53 - 57 Karine Hovanes, Tony W.H. Li, Jesus E. Munguia, Trung Truong, Tatjana Milovanovic, J. Lawrence Marsh, Randall F. Holcombe
& Marian L. Waterman doi:10.1038/ng0501-53 Abstract|Full text|PDF
(1,325K)
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Tas1r3, encoding a new candidate taste receptor, is allelic to the sweet responsiveness locus Sacpp58 - 63 Marianna Max, Y. Gopi Shanker, Liquan Huang, Minqing Rong, Zhan Liu, Fabien Campagne, Harel Weinstein, Sami Damak
& Robert F. Margolskee doi:10.1038/ng0501-58 Abstract|Full text|PDF
(1,529K)
|Supplementary Information
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporterpp69 - 72 Kerstin Lühn, Martin K. Wild, Matthias Eckhardt, Rita Gerardy-Schahn
& Dietmar Vestweber doi:10.1038/ng0501-69 Abstract|Full text|PDF
(2,472K)
|Supplementary Information
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiencypp73 - 76 Torben Lübke, Thorsten Marquardt, Amos Etzioni, Enno Hartmann, Kurt von Figura
& Christian Körner doi:10.1038/ng0501-73 Abstract|Full text|PDF
(380K)
|Supplementary Information
Transposable B2 SINE elements can provide mobile RNA polymerase II promoterspp77 - 81 Olivier Ferrigno, Thierry Virolle, Zied Djabari, Jean-Paul Ortonne, Robert J. White
& Daniel Aberdam doi:10.1038/ng0501-77 Abstract|Full text|PDF
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Haploinsufficiency of protamine-1 or -2 causes infertility in micepp82 - 86 Chunghee Cho, William D. Willis, Eugenia H. Goulding, Haesook Jung-Ha, Young-Chul Choi, Norman B. Hecht
& Edward M. Eddy doi:10.1038/ng0501-82 Abstract|Full text|PDF
(156K)
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A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder populationpp87 - 91 Tarja Laitinen, Mark J. Daly, John D. Rioux, Paula Kauppi, Catherine Laprise, Tuula Petäys, Todd Green, Michele Cargill, Tari Haahtela, Eric S. Lander, Lauri A. Laitinen, Thomas J. Hudson
& Juha Kere doi:10.1038/ng0501-87 Abstract|Full text|PDF
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Gene therapy restores vision in a canine model of childhood blindnesspp92 - 95 Gregory M. Acland, Gustavo D. Aguirre, Jharna Ray, Qi Zhang, Tomas S. Aleman, Artur V. Cideciyan, Susan E. Pearce-Kelling, Vibha Anand, Yong Zeng, Albert M. Maguire, Samuel G. Jacobson, William W. Hauswirth
& Jean Bennett doi:10.1038/ng0501-92 Abstract|Full text|PDF
(258K)
|Supplementary Information
Correction: Hot-stop PCR: a simple and general assay for linear quantitation of allele ratiosp97 doi:10.1038/ng0501-97a Full text|PDF
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Correction: The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesityp97 doi:10.1038/ng0501-97b Full text|PDF
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2-subunit gene
-catenin−sensitive isoforms of lymphoid enhancer factor-1 are selectively expressed in colon cancer
