This page contains links to supplementary information for papers published before April 2002. For papers published after this date, links to supplementary information appear alongside each paper's entry on the table of contents pages.
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| Volume 30 Issue 3 2003 |
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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
pp 259 - 269
C J Ward, M C Hogan, S Rossetti, D Walker, T Sneddon, X Wang, V Kubly, J M Cunningham, R Bacallao, M Ishibashi, D S Milliner, V E Torres & P C Harris
Published online: 4 February 2002, doi:10.1038/ng833
Web Table A (PDF 3k) | Web
Table B (PDF 3k) |
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The DNA damage-dependent intra–S phase checkpoint is regulated by parallel pathways
pp 290 - 294
J Falck, J H J Petrini, B R Williams, J Lukas & J Bartek
Published online: 19 February 2002, doi:10.1038/ng845
Web Figure A (PDF 609k) |
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| Volume 30 Issue 2 2003 |
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Germline mutations in the ribonuclease L gene in families showing linkage with HPC1
pp 181 - 184
J Carpten, N Nupponen, S Isaacs, R Sood, C Robbins, J Xu, M Faruque, T Moses, C Ewing, E Gillanders, P Hu, P Bujnovszky, I Makalowska, A Baffoe-Bonnie, D Faith, J Smith, D Stephan, K Wiley, M Brownstein, D Gildea, B Kelly, R Jenkins, G Hostetter, M Matikainen, J Schleutker, K Klinger, T Connors, Y Xiang, Z Wang, A De Marzo, N Papadopoulos, O -P Kallioniemi, R Burk, D Meyers, H Grönberg, P Meltzer, R Silverman, J Bailey-Wilson, P Walsh, W Isaacs & J Trent
Published online: 22 January 2002, doi:10.1038/ng823
Web Figure A (PDF 410k) |
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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
pp 143 - 144
H Olbrich, K Häffner, A Kispert, A Völkel, A Volz, G Sasmaz, R Reinhardt, S Hennig, H Lehrach, N Konietzko, M Zariwala, P G Noone, M Knowles, H M Mitchison, M Meeks, E M K Chung, F Hildebrandt, R Sudbrak & H Omran
Published online: 14 January 2002, doi:10.1038/ng817
Web Figure A (PDF 514k) | Web
Figure B (PDF 304k) | Web
Figure C (PDF 162k) | Web
Figure D (PDF 224k) | Web
Note A (PDF 294k) |
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Identification of foreign gene sequences by transcript filtering against the human genome
pp 141 - 142
G Weber, J Shendure, D M Tanenbaum, G M Church & M Meyerson
Published online: 14 January 2002, doi:10.1038/ng818
Web Note A (PDF 137k) | Web
Note B (PDF 137k) | Web
Note C (PDF 137k) | Web
Note D (PDF 137k) | Web
Note E (PDF 137k) | Web
Note F (PDF 137k) | Web
Note G (PDF 137k) | Web
Note H (PDF 137k) | Web
Note I (PDF 137k) | Web
Figure A (PDF 137k) | Web
References (PDF 137k) | Web
Table A (PDF 137k) | Web
Table B (PDF 137k) | Web
Table C (PDF 137k) | Web
Table D (PDF 137k) |
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Angptl3 regulates lipid metabolism in mice
p159
R Koishi, Y Ando, M Ono, M Shimamura, H Yasumo, T Fujiwara, H Horikoshi & H Furukawa
Published online: 14 January 2002, doi:10.1038/ng814
Web Table A (PDF 137k) |
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Identification of a variant associated with adult-type hypolactasia
pp 233 - 237
N S Enattah, T Sahi, E Savilahti, J D Terwilliger, L Peltonen & I Järvelä
doi:10.1038/ng826
Web Table A (PDF 137k) |
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Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis
pp 185 - 189
B J Herron, W Lu, C Rao, S Liu, H Peters, R T Bronson, M J Justice, J D McDonald & D R Beier
Published online: 2 January 2002, doi:10.1038/ng812
Web Figure A (PDF 20k) | Web
Table A (PDF 137k) |
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| Volume 30 Issue 1 2003 |
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
pp 21 - 22
R V Baxter, K Ben Othmane, J M Rochelle, J E Stajich, C Hulette, S Dew-Knight, F Hentati, M Ben Hamida, S Bel, J E Stenger, J R Gilbert, M A Pericak-Vance & J M Vance
Published online: 17 December 2001, doi:10.1038/ng796
Web Figure A (PDF 86k) | Web
Figure B (PDF 97k) | Web
Figure C (PDF 69k) | Web
Note A (PDF 10k) |
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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
pp 22 - 25
A Cuesta, L Pedrola, T Sevilla, J García-Planells, M J Chumillas, F Mayordomo, E LeGuern, I Marín, J J Vílchez & F Palau
Published online: 17 December 2001, doi:10.1038/ng798
Web Table A (PDF 6k) | Web
Table B (PDF 5k) |
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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
pp 27 - 28
L Gouya, H Puy, A -M Robreau, M Bourgeois, J Lamoril, V Da Silva, B Grandchamp & J -C Deybach
Published online: 20 December 2001, doi:10.1038/ng809
Web Table A (PDF 98k) |
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Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia
pp 86 - 91
S E Fisher, C Francks, A J Marlow, I L MacPhie, D F Newbury, L R Cardon, Y Ishikawa-Brush, A J Richardson, J B Talcott, J Gayán, R K Olson, B F Pennington, S D Smith, J C DeFries, J F Stein & A P Monaco
Published online: 17 December 2001, doi:10.1038/ng792
Web Figure A (PDF 87k) | Web
Figure B (PDF 78k) | Web
Figure C (PDF 86k) | Web
Figure D (PDF 87k) | Web
Figure E (PDF 77k) | Web
Table A (PDF 64k) | Web
Table B (PDF 63k) | Web
Table C (PDF 99k) | Web
Table D (PDF 87k) |
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MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia
pp 41 - 47
S A Armstrong, J E Staunton, L B Silverman, R Pieters, M L den Boer, M D Minden, S E Sallan, E S Lander, T R Golub & S J Korsmeyer
Published online: 3 December 2001, doi:10.1038/ng765
Web Note A (PDF 15k) |
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| Volume 29 Issue 4 2001 |
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Absence of ST7 mutations in tumor-derived cell lines and tumors
pp 380 - 381
K A Hughes, A F L Hurlstone, E S Tobias, R McFarlane & D M Black
Published online: 9 October 2001 | doi:10.1038/ng783
Web Table A (DOC 29k) |
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Mutation of the ST7 tumor suppressor gene on 7q31.1 is rare in breast, ovarian and colorectal cancers
pp 379 - 380
N A Thomas, D Y H Choong, V J Jokubaitis, P J Neville & I G Campbell
Published online: 22 October 2001 | doi:10.1038/ng784
Web Table A (PDF 15k) | Web
Table B (PDF 50k) |
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Computational identification of promoters and first exons in the human genome
pp 412 - 417
R V Davuluri, I Grosse & M Q Zhang
Published online: 26 November 2001, doi:10.1038/ng780
Web Tables A and B (DOC 194k) |
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The contributions of sex, genotype and age to transcriptional variance in Drosophila melanogaster
pp 389 - 395
W Jin, R M Riley, R D Wolfinger, K P White, G Passador-Gurgel & G Gibson
Published online: 26 November 2001, doi:10.1038/ng766
Web Table A (PDF 52k) |
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Natural variation in light sensitivity of Arabidopsis
pp 441 - 446
J N Maloof, J O Borevitz, T Dabi, J Lutes, R B Nehring, J L Redfern, G T Trainer, J M Wilson, T Asami, C C Berry, D Weigel & J Chory
Published online: 26 November 2001, doi:10.1038/ng777
Web Note A and Web Table A (PDF 42k) |
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Genetic mapping with SNP markers in Drosophila
pp 475 - 481
J Berger, T Suzuki, K -A Senti, J Stubbs, G Schaffner & B J Dickson
Published online: 19 November 2001, doi:10.1038/ng773
Web Note A (PDF 279k) | Web
Figure A (PDF 78k) | Web
Table A (PDF 137k) | Web
Table B (PDF 116k) | Web
Table C (PDF 139k) | Web
Table D (PDF 141k) | Web
Table E (PDF 25k) | Web
Table F (PDF 29k) |
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Conjugation between bacterial and mammalian cells
pp 375 - 376
V L Waters
Published online: 19 November 2001, doi:10.1038/ng779
Web Figure A (JPG 96k) | Web
Figure B (JPG 64k) |
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Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease
pp 404 - 411
C -H Kwon, X Zhu, J Zhang, L L Knoop, R Tharp, R J Smeyne, C G Eberhart, P C Burger & S J Baker
Published online: 19 November 2001, doi:10.1038/ng781
Web Figure A (PDF 11,328k) |
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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
pp 383 - 388
P A J Leegwater, G Vermeulen, A A M Könst, S Naidu, J Mulders, A Visser, P Kersbergen, D Mobach, D Fonds, C G M van Berkel, R J L F Lemmers, R R Frants, C B M Oudejans, R B H Schutgens, J C Pronk & M S van der Knaap
Published online: 12 November 2001, doi:10.1038/ng764
Web Table A (PDF 48k) |
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Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution
pp 487 - 489
J F Hughes & J M Coffin
Published online: 12 November 2001, doi:10.1038/ng775
Web Table A (PDF 7k) | Web
Figure A (JPG 27k) | Web
Figure B (JPG 9k) | Web
Figure C (JPG 7k) |
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Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer
pp 418 - 425
J Jonkers, R Meuwissen, H van der Gulden, H Peterse, M van der Valk & A Berns
Published online: 5 November 2001, doi:10.1038/ng747
Web Table A (PDF 48k) | Web
Table B (PDF 44k) |
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Correlation between transcriptome and interactome mapping data from Saccharomyces cerevisiae
pp 482 - 486
H Ge, Z Liu, G M Church & M Vidal
Published online: 5 November 2001, doi:10.1038/ng776
Web Table A (PDF 9k) |
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| Volume 29 Issue 3 2001 |
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Bioinformatic identification of potential autocrine signaling loops in cancers from gene expression profiles
pp 295 - 300
T G Graeber & D Eisenberg
Published online: 29 October 2001, doi:10.1038/ng755
Web Figure A (PDF 20k) | Web
Figure B (PDF 22k) | Web
Table A (PDF 18k) | Web
Table B (PDF 31k) | Web
Table C (PDF 21k) | Web
Table D (PDF 22k) | Web
Table E (PDF 39k) |
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Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
pp 326 - 331
X Zhao, D Alvarado, S Rainier, R Lemons, P Hedera, C H Weber, T Tukel, M Apak, T Heiman-Patterson, L Ming, M Bui & J K Fink
Published online: 29 October 2001, doi:10.1038/ng758
Web Table A (DOC 25k) |
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Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
pp 261 - 262
A T Rovio, D R Marchington, S Donat, H -C Schuppe, J Abel, E Fritsche, D J Elliott, P Laippala, A L Ahola, D McNay, R F Harrison, B Hughes, T Barrett, D M D Bailey, D Mehmet, A M Jequier, T B Hargreave, S -H Kao, J M Cummins, D E Barton, H J Cooke, Y -H Wei, L Wichmann, J Poulton & H T Jacobs
Published online: 22 October 2001, doi:10.1038/ng759
Web Table A and Web Note A (DOC 64k) |
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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
pp 279 - 286
T Kuroda-Kawaguchi, H Skaletsky, L G Brown, P J Minx, H S Cordum, R H Waterston, R K Wilson, S Silber, R Oates, S Rozen & D C Page
Published online: 22 October 2001, doi:10.1038/ng757
Web Note A (DOC 10,197k) | Web
Table A (DOC 27k) | Web
Table B (DOC 23k) | Web
Table C (DOC 28k) | Web
Table D (DOC 24k) | Web
Table E (DOC 61k) |
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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome
pp 301 - 305
H M Hoffman, J L Mueller, D H Broide, A A Wanderer & R D Kolodner
Published online: 22 October 2001, doi:10.1038/ng756
Web Table A (PDF 32k) |
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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
pp 337 - 341
H Mandel, R Szargel, V Labay, O Elpeleg, A Saada, A Shalata, Y Anbinder, D Berkowitz, C Hartman, M Barak, S Eriksson & N Cohen
Published online: 22 October 2001, doi:10.1038/ng746
Web Table A (PDF 3k) |
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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
pp 310 - 314
R Birkenhäger, E Otto, M J Schürmann, M Vollmer, E -M Ruf, I Maier-Lutz, F Beekmann, A Fekete, H Omran, D Feldmann, D V Milford, N Jeck, M Konrad, D Landau, N V A M Knoers, C Antignac, R Sudbrak, A Kispert & F Hildebrandt
Published online: 22 October 2001, doi:10.1038/ng752
Web Figure A (PDF 827k) | Web
Figure B (PDF 84k) | Web
Table A (DOC 21k) |
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Epigenetic silencing of CD4 in T cells committed to the cytotoxic lineage
pp 332 - 336
Y -R Zou, M -J Sunshine, I Taniuchi, F Hatam, N Killeen & D R Littman
Published online: 22 October 2001, doi:10.1038/ng750
Web Table A (DOC 21k) |
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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
pp 342 - 344
A Saada, A Shaag, H Mandel, Y Nevo, S Eriksson & O Elpeleg
Published online: 22 October 2001, doi:10.1038/ng751
Web Table A (PDF 4k) |
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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
pp 315 - 320
M Nakano, K Yamada, J Fain, E C Sener, C J Selleck, A H Awad, J Zwaan, P B Mullaney, T M Bosley & E C Engle
Published online: 15 October 2001, doi:10.1038/ng744
Web Table A (PDF 14k) | Web
Table B (PDF 14k) | Web
Table C (PDF 16k) | Web
Table D (PDF 14k) | Web
Table E (PDF 14k) |
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Replication validity of genetic association studies
pp 306 - 309
J P A Ioannidis, E E Ntzani, T A Trikalinos & D G Contopoulos-Ioannidis
Published online: 15 October 2001, doi:10.1038/ng749
Web Figures A1-A36 (PDF 836k) | Web
Notes A-C (PDF 117k) |
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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
pp 345 - 349
E Verpy, S Masmoudi, I Zwaenepoel, M Leibovici, T P Hutchin, I Del Castillo, S Nouaille, S Blanchard, S Lainé, J -L Popot, F Moreno, R F Mueller & C Petit
Published online: 10 September 2001, doi:10.1038/ng726
Web Table A (PDF 137k) | Web
Table B (PDF 137k) | Web
Table C (PDF 137k) | Web
Table D (PDF 137k) |
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An Flp indicator mouse expressing alkaline phosphatase from the ROSA26 locus
pp 257 - 259
R Awatramani, P Soriano, J J Mai & S Dymecki
doi:10.1038/ng1101-257
Web Figure A (GIF 36k) | Web
Table A (PDF 46k) |
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Assembly of microarrays for genome-wide measurement of DNA copy number
pp 263 - 264
A M Snijders, N Nowak, R Segraves, S Blackwood, N Brown, J Conroy, G Hamilton, A K Hindle, B Huey, K Kimura, S Law, K Myambo, J Palmer, B Ylstra, J P Yue, J W Gray, A N Jain, D Pinkel & D G Albertson
doi:10.1038/ng754
Web Figure A (PDF 378k) | Web
Figure B (PDF 388k) | Web
Figure C (PDF 13k) | Web
Note A (DOC 44k) | Web
Table A (XLS 604k) | Web
Table B (XLS 4039k) | Web
Table C (XLS 4094k) | Web
Table D (XLS 619k) | Web
Table E (XLS 3604k) | Web
Table F (XLS 3598k) | Web
Table G (XLS 3612k) | Web
Table H (XLS 2741k) | Web
Table I (PDF 10k) | Web
Table J (XLS 1871k) |
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| Volume 29 Issue 2 2001 |
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The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
pp 179 - 183
C Braybrook, K Doudney, A C B Marçano, A Arnason, A Bjornsson, M A Patton, P J Goodfellow, G E Moore & P Stanier
Published online: 17 September 2001, doi:10.1038/ng730
Web Table A (PDF 9k) |
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Gene polymorphism in Netherton and common atopic disease
pp 175 - 178
A J Walley, S Chavanas, M F Moffatt, R M Esnouf, B Ubhi, R Lawrence, K Wong, G R Abecasis, E Y Jones, J I Harper, A Hovnanian & W O C M Cookson
Published online: 4 September 2001, doi:10.1038/ng728
Web Note A (PDF 181k) |
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Identifying regulatory networks by combinatorial analysis of promoter elements
pp 153 - 159
Y Pilpel, P Sudarsanam & G M Church
Published online: 10 September 2001, doi:10.1038/ng724
Web Table A (PDF 137k) | Web
Table B (PDF 137k) |
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An SSLP marker–anchored BAC framework map of the mouse genome
pp 133 - 134
W -W Cai, C -W Chow, S Damani, S G Gregory, M Marra & A Bradley
doi:10.1038/ng1001-133
Web Table A (PDF 17k) |
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A role for MLH3 in hereditary nonpolyposis colorectal cancer
pp 137 - 138
Y Wu, M J W Berends, R H Sijmons, R G J Mensink, E Verlind, K A Kooi, T van der Sluis, C Kempinga, A G J van der Zee, H Hollema, C H C M Buys, J H Kleibeuker & R M W Hofstra
doi:10.1038/ng1001-137
Web Table A (PDF 57k) |
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Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males
pp 139 - 140
H Kurahashi & B S Emanuel
doi:10.1038/ng1001-139
Web Note A (DOC 21k) |
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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
pp 166 - 173
S Hadano, C K Hand, H Osuga, Y Yanagisawa, A Otomo, R S Devon, N Miyamoto, J Showguchi-Miyata, Y Okada, R Singaraja, D A Figlewicz, T Kwiatkowski, B A Hosler, T Sagie, J Skaug, J Nasir, R H Brown Jr, S W Scherer, G A Rouleau, M R Hayden & Joh-E Ikeda
doi:10.1038/ng1001-166
Web Figure A (PDF 71k) | Web
Figure B (PDF 36k) | Web
Table A (XLS 27k) | Web
Table B (XLS 84k) | Web
Table C (DOC 24k) |
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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
pp 184 - 188
H Date, O Onodera, H Tanaka, K Iwabuchi, K Uekawa, S Igarashi, R Koike, T Hiroi, T Yuasa, Y Awaya, T Sakai, T Takahashi, H Nagatomo, Y Sekijima, I Kawachi, Y Takiyama, M Nishizawa, N Fukuhara, K Saito, S Sugano & S Tsuji
doi:10.1038/ng1001-184
Web Table A (DOC 19k) |
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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
pp 189 - 193
Maria-Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka, Eiji Uchida, Toby Gibson, Pedro Mendonça, Manuela Costa, José Barros, Takayuki Yanagisawa, Mitsunori Watanabe, Yoshio Ikeda, Masashi Aoki, Tetsuya Nagata, Paula Coutinho, Jorge Sequeiros & Michel Koenig
doi:10.1038/ng1001-189
Web Table A (PDF 3k) | Web
Table B (PDF 3k) |
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Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
pp 223 - 228
J D Rioux, M J Daly, M S Silverberg, K Lindblad, H Steinhart, Z Cohen, T Delmonte, K Kocher, K Miller, S Guschwan, E J Kulbokas, S O'Leary, E Winchester, K Dewar, T Green, V Stone, C Chow, A Cohen, D Langelier, G Lapointe, D Gaudet, J Faith, N Branco, S B Bull, R S McLeod, A M Griffiths, A Bitton, G R Greenberg, E S Lander, K A Siminovitch & T J Hudson
doi:10.1038/ng1001-223
Web Table A (PDF 14k) | Web
Table B (PDF 8k) | Web
Table C (PDF 10k) |
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Haplotype tagging for the identification of common disease genes
pp 233 - 237
G C L Johnson, L Esposito, B J Barratt, A N Smith, J Heward, G Di Genova, H Ueda, H J Cordell, I A Eaves, F Dudbridge, R C J Twells, F Payne, W Hughes, S Nutland, H Stevens, P Carr, E Tuomilehto-Wolf, J Tuomilehto, S C L Gough, D G Clayton & J A Todd
doi:10.1038/ng1001-233
Web Table A (PDF 12k) | Web
Table B (PDF 12k) | Web
Table C (PDF 15k) | Web
Table D (PDF 9k) | Web
Table E (PDF 10k) | Web
Table F (PDF 14k) | Web
Table G (PDF 10k) | Web
Table H (PDF 13k) | Web
Table I (PDF 14k) | Web
Note A (PDF 64k) |
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| Volume 29 Issue 1 2001 |
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Wildtype Kras2 can inhibit lung carcinogenesis in mice
pp 25 - 33
Z Zhang, Y Wang, H G Vikis, L Johnson, G Liu, J Li, M W Anderson, R C Sills, H L Hong, T R Devereux, T Jacks, K -L Guan & M You
Published online: 27 August 2001, doi:10.1038/ng721
Web Table A (PDF 2817k) |
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Mutations in the gene encoding  -sarcoglycan cause myoclonus–dystonia syndrome
pp 66 - 69
A Zimprich, M Grabowski, F Asmus, M Naumann, D Berg, M Bertram, K Scheidtmann, P Kern, J Winkelmann, B Müller-Myhsok, L Riedel, M Bauer, T Müller, M Castro, T Meitinger, T M Strom & T Gasser
Published online: 27 August 2001, doi:10.1038/ng709
Web Table A (PDF 9k) |
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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
pp 83 - 87
I Eisenberg, N Avidan, T Potikha, H Hochner, M Chen, T Olender, M Barash, M Shemesh, M Sadeh, G Grabov-Nardini, I Shmilevich, A Friedmann, G Karpati, W G Bradley, L Baumbach, D Lancet, E B Asher, J S Beckmann, Z Argov & S Mitrani-Rosenbaum
Published online: 27 August 2001, doi:10.1038/ng718
Web Table A (PDF 13k) |
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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
pp 17 - 18
B Moghadaszadeh, N Petit, C Jaillard, M Brockington, S Q Roy, L Merlini, N Romero, B Estournet, I Desguerre, D Chaigne, F Muntoni, H Topaloglu & P Guicheney
Published online: 20 August 2001, doi:10.1038/ng713
Web Methods (PDF 33k) | Web
Figure A (PDF 36k) | Web
Figure B (PDF 199k) |
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A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis
pp 49 - 53
S Mazeyrat, N Saut, V Grigoriev, S K Mahadevaiah, O A Ojarikre, A Rattigan, C Bishop, E M Eicher, M J Mitchell & P S Burgoyne
Published online: 20 August 2001, doi:10.1038/ng717
Web Table A (PDF 6k) |
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Mutations in the gene encoding immunoglobulin  -binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
pp 75 - 77
K Grohmann, M Schuelke, A Diers, K Hoffmann, B Lucke, C Adams, E Bertini, H Leonhardt-Horti, F Muntoni, R Ouvrier, A Pfeufer, R Rossi, L Van Maldergem, J M Wilmshurst, T F Wienker, M Sendtner, S Rudnik-Schöneborn, K Zerres & C Hübner
Published online: 13 August 2001, doi:10.1038/ng703
Web Figure A (PDF 13k) | Web
Table A (PDF 65k) | Web
Table B (PDF 4k) |
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Comparable system-level organization of Archaea and Eukaryotes
pp 54 - 56
J Podani, Z N Oltvai, H Jeong, B Tombor, A -L Barabási & E Szathmáry
Published online: 13 August 2001, doi:10.1038/ng708
Web Figure A (PDF 63 K) |
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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
pp 57 - 60
P de Lonlay, I Valnot, A Barrientos, M Gorbatyuk, A Tzagoloff, J -W Taanman, E Benayoun, D Chrétien, N Kadhom, A Lombès, H O de Baulny, P Niaudet, A Munnich, P Rustin & A Rötig
Published online: 30 July 2001, doi:10.1038/ng706
Web Table A (PDF 5k) | Web
Table B (PDF 6k) |
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| Volume 28 Issue 4 2001 |
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Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
pp 365 - 370
J Magré, M Delépine, E Khallouf, T Gedde-Dahl Jr, L Van Maldergem, E Sobel, J Papp, M Meier, A Mégarbané, BSCL Working Group , M Lathrop & J Capeau
Published online: 23 July 2001, doi:10.1038/ng585
Web Table A (PDF 10k) | Web
Table B (PDF 11k) | Web
Table C (PDF 13k) |
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Photo-mediated gene activation using caged RNA/DNA in zebrafish embryos
pp 317 - 325
H Ando, T Furuta, R Y Tsien & H Okamoto
Published online: 23 July 2001, doi:10.1038/ng583
Web Note A (PDF 18k) |
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Mutation of DNASE1 in people with systemic lupus erythematosus
pp 313 - 314
K Yasutomo, T Horiuchi, S Kagami, H Tsukamoto, C Hashimura, M Urushihara & Y Kuroda
doi:10.1038/91070
Web Note A (PDF 11k) |
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Promoter-specific binding of Rap1 revealed by genome-wide maps of protein–DNA association
pp 327 - 334
J D Lieb, X Liu, D Botstein & P O Brown
Published online: 16 July 2001, doi:10.1038/ng569
Web Figure A (PDF 227k) | Web
Figure B (PDF 259k) | Web
Figure C (PDF 248k) | Web
Figure D (PDF 19k) | Web
Figure E (PDF 1065k) | Web
Figure F (PDF 54k) | Web
Figure G (PDF 38k) | Web
Figure H (HTM 5k) | Web
Figure I (PDF 33k) | Web
Figure J (PDF 31k) | Web
Figure K (PDF 426k) | Web
Table A (XLS 253k) | Web
Table B (XLS 135k) | Web
Table C (XLS 60k) | Web
Table D (XLS 1608k) | Web
Table E (XLS 11k) | Web
Table F (XLS 224k) | Web
Table G (XLS 8k) | Web
Table H (XLS 9k) | Web
Table I (XLS 8k) |
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Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico
pp 376 - 380
Y Anikster, M Huizing, J White, Y O Shevchenko, D L Fitzpatrick, J W Touchman, J G Compton, S J Bale, R T Swank, W A Gahl & J R Toro
Published online: 16 July 2001, doi:10.1038/ng576
Web Table A (PDF 13k) |
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| Volume 28 Issue 3 2001 |
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
pp 213 - 214
O T Njajou, N Vaessen, M Joosse, B Berghuis, J W F van Dongen, M H Breuning, P J L M Snijders, W P F Rutten, L A Sandkuijl, B A Oostra, C M van Duijn & P Heutink
doi:10.1038/90038
Web Figure A (PDF 32k) | Web
Figure B (PDF 32k) | Web
Table A (PDF 32k) | Web
Table B (PDF 32k) | Web
Note A (PDF 32k) |
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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
pp 218 - 219
R C Betz, B G H Schoser, D Kasper, K Ricker, A Ramírez, V Stein, T Torbergsen, Y-A Lee, M M Nöthen, T F Wienker, J-P Malin, P Propping, A Reis, W Mortier, T J Jentsch, M Vorgerd & C Kubisch
doi:10.1038/90050
Web Figure A (GIF 32k) |
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Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia
pp 220 - 221
Z Ma, S W Morris, V Valentine, M L, J-A Herbrick, X Cui, D Bouman, Y Li, P K Mehta, D Nizetic, Y Kaneko, G C F Chan, L C Chan, J Squire, S W Scherer & J K Hitzler
doi:10.1038/90054
Web Figure A (PDF 128k) | Web
Figure B (JPG 64k) | Web
Figure C (PDF 288k) | Web
Figure D (GIF 32k) | Web
Methods (PDF 32k) |
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Functional analysis of secreted and transmembrane proteins critical to mouse development
pp 241 - 249
K J Mitchell, K I Pinson, O G Kelly, J Brennan, J Zupicich, P Scherz, P A Leighton, L V Goodrich, X Lu, B J Avery, P Tate, K Dill, E Pangilinan, P Wakenight, M Tessier-Lavigne & W C Skarnes
doi:10.1038/90074
Web Table A (PDF 32k) |
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
pp 223 - 231
J N Spelbrink, F-Y Li, V Tiranti, K Nikali, Q -P Yuan, M Tariq, S Wanrooij, N Garrido, G Comi, L Morandi, L Santoro, A Toscano, G-M Fabrizi, H Somer, R Croxen, D Beeson, J Poulton, A Suomalainen, H T Jacobs, M Zeviani & C Larsson
doi:10.1038/90058
Web Table A (PDF 32k) |
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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
pp 211 - 212
G Van Goethem, B Dermaut, A Löfgren, J-J Martin & C Van Broeckhoven
doi:10.1038/90034
Web figure A (GIF 32k) | Web
Table A (PDF 32k) | Web
Table B (PDF 32k) |
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| Volume 28 Issue 2 2001 |
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The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
pp 121 - 122
S-i Ueno, Y Maruki, M Nakamura, Y Tomemori, K Kamae, H Tanabe, Y Yamashita, S Matsuda, S Kaneko & A Sano
doi:10.1038/88825
Web Figure A (PDF 6000k) | Web
Table B (PDF 128k) |
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A conserved sorting-associated protein is mutant in chorea-acanthocytosis
pp 119 - 120
L Rampoldi, C Dobson-Stone, J P Rubio, A Danek, R M Chalmers, N W Wood, C Verellen, X Ferrer, A Malandrini, G M Fabrizi, R Brown, J Vance, M Pericak-Vance, G Rudolf, S Carrè, E Alonso, M Manfredi, A H Németh & A P Monaco
doi:10.1038/88821
Web Figure A (PDF 32k) | Web
Figure B (PDF 64k) | Web
Figure C (PDF 32k) | Web
Table A (PDF 32k) |
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Telomere dysfunction and evolution of intestinal carcinoma in mice and humans pp 155 - 159
K L Rudolph, M Millard, M W Bosenberg & R A DePinho
doi:10.1038/88871
Web Figure A (PDF 32k) |
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Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration pp 131 - 138
B Oosthuyse, L Moons, E Storkebaum, H Beck, D Nuyens, K Brusselmans, J V Dorpe, P Hellings, M Gorselink, S Heymans, G Theilmeier, M Dewerchin, V Laudenbach, P Vermylen, H Raat, T Acker, V Vleminckx, L V D Bosch, N Cashman, H Fujisawa, M R Drost, R Sciot, F Bruyninckx, D J Hicklin, C Ince, P Gressens, F Lupu, K H Plate, W Robberecht, J -M Herbert, D Collen & P Carmeliet
doi:10.1038/88842
Web Note A (PDF 32k) | Web
Note B (PDF 32k) | Web
Note C (PDF 32k) | Web
Note D (PDF 32k) | Web
Figure A (GIF 96k) | Web
Figure B (JPG 128k) | Web
Figure C (JPG 160k) | Web
Figure D (JPG 96k) | Web
Figure E (JPG 96k) | Web
Figure F (JPG 96k) |
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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 pp 188 - 191
K Mykytyn, T Braun, R Carmi, N B Haider, C C Searby, M Shastri, G Beck, A F Wright, A Iannaccone, K Elbedour, R Riise, A Baldi, A Raas-Rothschild, S W Gorman, D M Duhl, S G Jacobson, T Casavant, E M Stone & V C Sheffield
doi:10.1038/88925
Web Figure A (PDF 32k) | Web
Table A (PDF 32k) |
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Regulation of the Caenorhabditis elegans longevity protein DAF-16 by insulin/IGF-1 and germline signaling
pp 139 - 145
K Lin, H Hsin, N Libina & C Kenyon
doi:10.1038/88850
Web Legend (PDF 32k) |
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| Volume 28 Issue 1 2001 |
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Susceptibility to mouse cytomegalovirus is associated with deletion of an activating natural killer cell receptor of the C-type lectin superfamily
pp 42 - 45
S-H Lee, S Girard, D Macina, M Busà, A Zafer, A Belouchi, P Gros & S M Vidal
doi:10.1038/88247
Web Table A (PDF 32k) |
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The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter
pp 69 - 72
K Lühn, M K Wild, M Eckhardt, R Gerardy-Schahn & D Vestweber
doi:10.1038/88289
Web Figure A (PDF 32k) |
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Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
pp 64 - 68
H Fares & I Greenwald
doi:10.1038/88281
Web Methods (PDF 32k) |
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Tas1r3, encoding a new candidate taste receptor, is allelic to the sweet responsiveness locus Sac
pp 58 - 63
M Max, Y G Shanker, L Huang, M Rong, Z Liu, F Campagne, H Weinstein, S Damak & R F Margolskee
doi:10.1038/88270
Web Figure A (PDF 32k) | Web
Figure B (PDF 64k) |
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Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
pp 37 - 41
P Nürnberg, H Thiele, D Chandler, W Höhne, M L Cunningham, H Ritter, G Leschik, K Uhlmann, C Mischung, K Harrop, J Goldblatt, Z U Borochowitz, D Kotzot, F Westermann, S Mundlos, H -S Braun, N Laing & S Tinschert
doi:10.1038/88236
Web Methods (PDF 32k) |
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Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
pp 73 - 76
T Lübke, T Marquardt, A Etzioni, E Hartmann, K von Figura & C Körner
doi:10.1038/88299
Web Methods (PDF 32k) | Web
Figure A (PDF 32k) | Web
Figure B (PDF 32k) | Web
Figure C (PDF 192k) | Web
Figure D (PDF 832k) | Web
Figure E (PDF 672k) | Web
Figure F (PDF 672k) | Web
Figure G (PDF 32k) |
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Gene therapy restores vision in a canine model of childhood blindness
pp 92 - 95
G M Acland, G D Aguirre, J Ray, Q Zhang, T S Aleman, A V Cideciyan, S E Pearce-Kelling, V Anand, Y Zeng, A M Maguire, S G Jacobson, W W Hauswirth & J Bennett
doi:10.1038/88327
Web Movie A (MOV 3.6MB) | Web
Figure A (JPG 128k) |
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A literature network of human genes for high-throughput analysis of gene expression
pp 21 - 28
T-K Jenssen, A Lægreid, J Komorowski & E Hovig
doi:10.1038/88213
Web Table A (HTM 32k) | Web
Table B (JPG 128k) | Web
Movie A (MOV 288k) | Web
Movie B (MOV 288k) | Web
Movie C (MOV 352k) | Web
Movie D (MOV 352k) |
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| Volume 27 Issue 4 2001 |
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Hepatocyte nuclear factor-1 is an essential regulator of bile acid and plasma cholesterol metabolism
pp 375 - 382
D Q Shih, M Bussen, E Sehayek, M Ananthanarayanan, B L Shneider, F J Suchy, S Shefer, J S Bollileni, F J Gonzalez, J L Breslow & M Stoffel
doi:10.1038/86871
Web Table A (PDF 32k) |
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| An abundance of X-linked genes expressed in spermatogonia
pp 422 - 426 | |
