The extent of genetic variation in the CCR5 genepp221 - 222 M. Ali Ansari-Lari, Xiao-Mei Liu, Michael L. Metzker, Andrew R. Rut
& Richard A. Gibbs doi:10.1038/ng0797-221 References|PDF
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Reversal of a mitochondrial DNA defect in human skeletal musclepp222 - 224 Kim M. Clark, Laurence A. Bindoff, Robert N. Lightowlers, Richard M. Andrews, Philip G. Griffiths, Margaret A. Johnson, Elizabeth J. Brierley
& Douglass M. Turnbull doi:10.1038/ng0797-222 References|PDF
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Deletion of the promoter region in the Atp7a gene of the mottled dappled mousepp224 - 225 Barbara Levinson, Seymour Packman
& Jane Gitschier doi:10.1038/ng0797-224 References|PDF
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A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocatorpp226 - 234 Brett H. Graham, Katrina G. Waymire, Barbara Cottrell, Ian A. Trounce, Grant R. MacGregor
& Douglas C. Wallace doi:10.1038/ng0797-226 Abstract + references|PDF
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Mutations in the human Jagged1 gene are responsible for Alagille syndromepp235 - 242 Takaya Oda, Abdel G. Elkahloun, Brian L. Pike, Kazuki Okajima, Ian D. Krantz, Anna Genin, David A. Piccoli, Paul S. Meltzer, Nancy B. Spinner, Francis S. Collins
& Settara C. Chandrasekharappa doi:10.1038/ng0797-235 Abstract + references|PDF
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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1pp243 - 251 Linheng Li, Ian D. Krantz, Yu Deng, Anna Genin, Amy B. Banta, Colin C. Collins, Ming Qi, Barbara J. Trask, Wen Lin Kuo, Joanne Cochran, Teresa Costa, Mary Ella M. Pierpont, Elizabeth B. Rand, David A. Piccoli, Leroy Hood
& Nancy B. Spinner doi:10.1038/ng0797-243 Abstract + references|PDF
(1,281K)
Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21pp252 - 255 Mats Nilsson, Katerina Krejci, Jørn Koch, Marek Kwiatkowski, Peter Gustavsson
& Ulf Landegren doi:10.1038/ng0797-252 Abstract + references|PDF
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A component of the transcriptional represser MeCP1 shares a motif with DNA methyltransferase and HRX proteinspp256 - 259 Sally H. Cross, Richard R. Meehan, Xinsheng Nan
& Adrian Bird doi:10.1038/ng0797-256 Abstract + references|PDF
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Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3pp260 - 264 Marta Chesi, Elena Nardini, Leslie A. Brents, Evelin Schröck, Thomas Ried, W. Michael Kuehl
& P. Leif Bergsagel doi:10.1038/ng0797-260 Abstract + references|PDF
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Correlation between severity and SMN protein level in spinal muscular atrophypp265 - 269 Suzie Lefebvre, Philippe Burlet, Qing Liu, Solange Bertrandy, Olivier Clermont, Arnold Munnich, Gideon Dreyfuss
& Judith Melki doi:10.1038/ng0797-265 Abstract + references|PDF
(636K)
Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectorspp270 - 276 Richard O. Snyder, Carol H. Miao, Gijsbert A. Patijn, S. Kaye Spratt, Olivier Danos, Dea Nagy, Allen M. Gown, Brian Winther, Leonard Meuse, Lawrence K. Cohen, Arthur R Thompson
& Mark A. Kay doi:10.1038/ng0797-270 Abstract + references|PDF
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Toward a functional analysis of the yeast genome through exhaustive two-hybrid screenspp277 - 282 Micheline Fromont-Racine, Jean-Christophe Rain
& Pierre Legrain doi:10.1038/ng0797-277 Abstract + references|PDF
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Fringe boundaries coincide with Notch-dependent patterning centres in mammals and alter Notch-dependent development in Drosophilapp283 - 288 Brenda Cohen, Arash Bashirullah, Lina Dagnino, Christine Campbell, William W. Fisher, Ching Ching Leow, Elisabeth Whiting, David Ryan, Dawn Zinyk, Gabrielle Boulianne, Chi-chung Hui, Brenda Gallic, Robert A. Phillips, Howard D. Lipshitz
& Sean E. Egan doi:10.1038/ng0797-283 Abstract + references|PDF
(1,043K)
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va genepp289 - 292 Elodie Pastural, Franck J. Barrat, Rémi Dufourcq-Lagelouse, Stéphanie Certain, Ozden Sanal, Nada Jabado, Reinhard Seger, Claude Griscelli, Alain Fischer
& Geneviève de Saint Basile doi:10.1038/ng0797-289 Abstract + references|PDF
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Endothelial apoptosis in Braf-deficient micepp293 - 297 Leszek Wojnowski, Anne M. Zimmer, Thomas W. Beck, Heidi Hahn, Ricardo Bernal, Ulf R. Rapp
& Andreas Zimmer doi:10.1038/ng0797-293 Abstract + references|PDF
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Partial rescue of Brca15−6 early embryonic lethality by p53 or p21 null mutationpp298 - 302 Razqallah Hakem, José Luis de la Pompa, Andrew Elia, Julia Potter
& Tak W. Mak doi:10.1038/ng0797-298 Abstract + references|PDF
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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 genepp303 - 306 Robert S. Jackson, John W.M. Creemers, Shinya Ohagi, Marie-Laure Raffin-Sanson, Louise Sanders, Carl T. Montague, John C. Hutton
& Stephen O'Rahilly doi:10.1038/ng0797-303 Abstract + references|PDF
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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasiapp307 - 310 Brendan Lee, Kannan Thirunavukkarasu, Lei Zhou, Lucio Pastore, Antonio Baldini, Jacqueline Hecht, Valeric Geoffrey, Patricia Ducy
& Gerard Karsenty doi:10.1038/ng0797-307 Abstract + references|PDF
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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromepp311 - 315 Michael Bamshad, Robert C. Lin, David J. Law, W. Scott Watkins, Patrycja A. Krakowiak, Mary E. Moore, Piergiorgio Franceschini, Roberto Lala, Lewis B. Holmes, Tom C. Gebuhr, Benoit G. Bruneau, Albert Schinzel, J. G. Seidman, Christine E. Seidman
& Lynn B. Jorde doi:10.1038/ng0797-311 Abstract + references|PDF
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Corrigendum: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)p316 doi:10.1038/ng0797-316 PDF
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