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.
Volume 30 Issue 3 2003
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like proteinpp 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)
The DNA damage-dependent intra–S phase checkpoint is regulated by parallel pathwayspp 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)
Volume 30 Issue 2 2003
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1pp 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)
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetrypp 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)
Angptl3 regulates lipid metabolism in micep159 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)
Identification of a variant associated with adult-type hypolactasiapp 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)
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesispp 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)
Volume 30 Issue 1 2003
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21pp 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)
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A diseasepp 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)
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECHpp 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)
MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemiapp 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)
Volume 29 Issue 4 2001
Absence of ST7 mutations in tumor-derived cell lines and tumorspp 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)
Mutation of the ST7 tumor suppressor gene on 7q31.1 is rare in breast, ovarian and colorectal cancerspp 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)
Computational identification of promoters and first exons in the human genomepp 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)
The contributions of sex, genotype and age to transcriptional variance in Drosophila melanogasterpp 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)
Natural variation in light sensitivity of Arabidopsispp 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)
Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos diseasepp 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)
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matterpp 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)
Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancerpp 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)
Correlation between transcriptome and interactome mapping data from Saccharomyces cerevisiaepp 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)
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegiapp 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)
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertilitypp 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)
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndromepp 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)
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNApp 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)
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failurepp 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)
Epigenetic silencing of CD4 in T cells committed to the cytotoxic lineagepp 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)
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathypp 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)
Replication validity of genetic association studiespp 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)
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locuspp 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)
An Flp indicator mouse expressing alkaline phosphatase from the ROSA26 locuspp 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)
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossiapp 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)
Gene polymorphism in Netherton and common atopic diseasepp 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)
Identifying regulatory networks by combinatorial analysis of promoter elementspp 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)
An SSLP marker–anchored BAC framework map of the mouse genomepp 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)
A role for MLH3 in hereditary nonpolyposis colorectal cancerpp 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)
Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal malespp 139 - 140 H Kurahashi & B S Emanuel doi:10.1038/ng1001-139 Web Note A (DOC 21k)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2pp 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)
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily genepp 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)
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxinpp 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)
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn diseasepp 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)
Wildtype Kras2 can inhibit lung carcinogenesis in micepp 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)
Mutations in the gene encoding -sarcoglycan cause myoclonus–dystonia syndromepp 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)
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathypp 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)
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromepp 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)
A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesispp 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)
Mutations in the gene encoding immunoglobulin -binding protein 2 cause spinal muscular atrophy with respiratory distress type 1pp 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)
Comparable system-level organization of Archaea and Eukaryotespp 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)
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failurepp 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)
Volume 28 Issue 4 2001
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13pp 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)
Photo-mediated gene activation using caged RNA/DNA in zebrafish embryospp 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)
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)
Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Ricopp 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)
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseasepp 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)
Functional analysis of secreted and transmembrane proteins critical to mouse developmentpp 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)
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriapp 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)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletionspp 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)
Volume 28 Issue 2 2001
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)
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)
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)
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)
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)
Volume 28 Issue 1 2001
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)
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)
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)
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)
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)
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)
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)
An abundance of X-linked genes expressed in spermatogonia pp 422 - 426 P J Wang, J R McCarrey, F Yang & D C Page doi:10.1038/86927 Web Table A (DOC 96k)|Web
Table B (DOC 96k)
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease pp 369 - 370 N Wakamatsu, Y Yamada, K Yamada, T Ono, N Nomura, H Taniguchi, H Kitoh, N Mutoh, T Yamanaka, K Mushiake, K Kato, S-I Sonta & M Nagaya doi:10.1038/86860 Web Figure A (PDF 32k)
A major susceptibility locus for leprosy in India maps to chromosome 10p13 pp 439 - 441 M R Siddiqui, S Meisner, K Tosh, K Balakrishnan, S Ghei, S E Fisher, M Golding, N P Shanker Narayan, T Sitaraman, U Sengupta, R Pitchappan & A V S Hill doi:10.1038/86958 Web Table A (PDF 32k)
Volume 27 Issue 3 2001
SPTLC1 is mutated in hereditary sensory neuropathy, type 1 pp 261 - 262 K Bejaoui, C Wu, M D Scheffler, G Haan, P Ashby, L Wu, P de Jong & R H Brown Jr. doi:10.1038/85817 Web Table A (PDF 64k)
Multigenic control of Listeria monocytogenes susceptibility in mice pp 259 - 260 V L Boyartchuk, K W Broman, R E Mosher, S E F D'Orazio, M N Starnbach & W F Dietrich doi:10.1038/85812 Web Methods (PDF 128K)|Web
Figure A (PDF 32k)
Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states pp 318 - 321 P Schaner, N Richards, A Wadhwa, I Aksentijevich, D Kastner, P Tucker & D Gumucio doi:10.1038/85893 Web Figure A (PDF 32k)
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome pp 293 - 298 D L Guris, J Fantes, D Tara, B J Druker & A Imamoto doi:10.1038/85855 Web Table A (PDF 64k)
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I pp 309 - 312 J L Dawkins, D J Hulme, S B Brahmbhatt, M Auer-Grumbach & G A Nicholson doi:10.1038/85879 Web Table A (PDF 64k)
Open-reading-frame sequence tags (OSTs) support the existence of at least 17,300 genes in C. elegans pp 332 - 336 J Reboul, P Vaglio, N Tzellas, N Thierry-Mieg, T Moore, C Jackson, T Shin-i, Y Kohara, D Thierry-Mieg, J Thierry-Mieg, H Lee, J Hitti, L Doucette-Stamm, J L Hartley, G F Temple, M A Brasch, J Vandenhaute, P E Lamesch, D E Hill & M Vidal doi:10.1038/85913 Web Figure A (PDF 1.3MB)|Web Figure B (PDF 416k)|Web Figure C (PDF 128k)|Web Table A (PDF 32k)
Maternal methylation imprints on human chromosome 15 are established during or after fertilization pp 341 - 344 O El-Maarri, K Buiting, E G Peery, P M Kroisel, B Balaban, K Wagner, B Urman, J Heyd, C Lich, C I Brannan, J Walter & B Horsthemke doi:10.1038/85927 Web Figure A (GIF 64k)
Volume 27 Issue 2 2001
A candidate prostate cancer susceptibility gene at chromosome 17p pp 172 - 180 S V Tavtigian, J Simard, D H F Teng, V Abtin, M Baumgard, A Beck, N J Camp, A R Carillo, Y Chen, P Dayananth, M Desrochers, M Dumont, J M Farnham, D Frank, C Frye, S Ghaffari, J S Gupte, R Hu, D Iliev, T Janecki, E N Kort, K E Laity, A Leavitt, G Leblanc, J McArthur-Morrison, A Pederson, B Penn, K T Peterson, J E Reid, S Richards, M Schroeder, R Smith, S C Snyder, B Swedlund, J Swensen, A Thomas, M Tranchant, A -M Woodland, F Labrie, M H Skolnick, S Neuhausen, J Rommens & L A Cannon-Albright doi:10.1038/84808 Web Figure A (PDF 96k)|Web Figure B (PDF 64k)|Web Figure C (PDF 32k)
Volume 27 Issue 1 2001
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene pp 99 - 102 K N Alagramam, C L Murcia, H Y Kwon, K S Pawlowski, C G Wright & R P Woychik doi:10.1038/83837 Web Figure A (GIF 64k)|Web Figure B (GIF 32k)
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects pp 17 - 18 L A Mavrogiannis, I Antonopoulou, A Baxová, S Kutílek, C A Kim, S M Sugayama, A Salamanca, S A Wall, G M Morriss-Kay & A O M Wilkie doi:10.1038/83703 Web Methods (DOC 64k)
Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin pp 121 - 124 M Péterfy, J Phan, P Xu & K Reue doi:10.1038/83685 Web Figure A (MPP 416k)
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse pp 68 - 73 M E Brunkow, E W Jeffery, K A Hjerrild, B Paeper, L B Clark, S -A Yasayko, J E Wilkinson, D Galas, S F Ziegler & F Ramsdell doi:10.1038/83784 Web Figure A (MPP 87.5k)|Web Figure B (MPP 100k)
A biochemical function for attractin in agouti-induced pigmentation and obesity pp 40 - 47 L He, T M Gunn, D M Bouley, X -Y Lu, S J Watson, S F Schlossman, J S Duke-Cohan & G S Barsh doi:10.1038/83741 Web Figure A (GIF 64k)
Insertion of ß-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness pp 59 - 63 H S Scott, J Kudoh, M Wattenhofer, K Shibuya, A Berry, R Chrast, M Guipponi, J Wang, K Kawasaki, S Asakawa, S Minoshima, F Younus, S Q Mehdi, U Radhakrishna, M -P Papasavvas, C Gehrig, C Rossier, M Korostishevsky, A Gal, N Shimizu, B Bonne-Tamir & S E Antonarakis doi:10.1038/83768 Web Figure A (GIF 64k)|Web Table A (DOC 64k)|Web Table B (DOC 64k)|Web Table C (DOC 64k)|Web Table D (DOC 64k)
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy pp 18 - 20 R S Wildin, F Ramsdell, J Peake, F Faravelli, J -L Casanova, N Buist, E Levy-Lahad, M Mazzella, O Goulet, L Perroni, F Dagna Bricarelli, G Byrne, M McEuen, S Proll, M Appleby & M E Brunkow doi:10.1038/83707 Web Figure A (MPP 96k)|Web Figure B (MPP 128k)
A thyroid hormone receptor that is required for the development of green cone photoreceptors pp 94 - 98 L Ng, J B Hurley, B Dierks, M Srinivas, C Saltó, B Vennström, T A Reh & D Forrest doi:10.1038/83829 Web Figure A (GIF 108k)|Web Figure B (GIF 128k)
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D pp 103 - 107 F D Palma, R H Holme, E C Bryda, I A Belyantseva, R Pellegrino, B Kachar, K P Steel & K Noben-Trauth doi:10.1038/83660 Web Figure A (GIF 256k)
Fgf8 signalling from the AER is essential for normal limb development pp 460 - 463 M Lewandoski, X Sun & G R Martin doi:10.1038/82609 Web Table A (PDF 32k)
MAML1, a human homologue of Drosophila Mastermind, is a transcriptional co-activator for NOTCH receptors pp 484 - 489 L Wu, J C Aster, S C Blacklow, R Lake, S Artavanis-Tsakonas & J D Griffin doi:10.1038/82644 Web Figure A (PDF 64k)
Volume 26 Issue 3 2000
The nicotinic receptor ß2 subunit is mutant in nocturnal frontal lobe epilepsy pp 275 - 276 M D Fusco, A Becchetti, A Patrignani, G Annesi, A Gambardella, A Quattrone, A Ballabio, E Wanke & G Casari doi:10.1038/81566 Web Table A (PDF 128k)
Analysis of yeast protein kinases using protein chips pp 283 - 289 H Zhu, J F Klemic, S Chang, P Bertone, A Casamayor, K G Klemic, D Smith, M Gerstein, M A Reed & M Snyder doi:10.1038/81576 Web Table A (PDF 128k)
Mining the human genome using microarrays of open reading frames pp 315 - 318 S G Penn, D R Rank, D K Hanzel & D L Barker doi:10.1038/81613 Web Figure A (PDF 64k)
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22–23 pp 354 - 357 A G Gharavi, Y Yan, F Scolari, F P Schena, G M Frasca, G M Ghiggeri, K Cooper, A Amoroso, B F Viola, G Battini, G Caridi, C Canova, A Farhi, V Subramanian, C Nelson-Williams, S Woodford, B A Julian, R J Wyatt & R P Lifton doi:10.1038/81677 Web Figure A (GIF 96k)|Web Figure B (GIF 64k)|Web Figure C (GIF 64k)|Web Figure D (GIF 64k)|Web Table A (DOC 64k)
Y chromosome sequence variation and the history of human populations pp 358 - 361 P A Underhill, P Shen, A A Lin, L Jin, G Passarino, W H Yang, E Kauffman, B Bonné-Tamir, J Bertranpetit, P Francalacci, M Ibrahim, T Jenkins, J R Kidd, S Q Mehdi, M T Seielstad, R S Wells, A Piazza, R W Davis, M W Feldman, L L Cavalli-Sforza & P J Oefner doi:10.1038/81685 Web Table A (PDF 64k)
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy pp 370 - 374 P Bomont, L Cavalier, F Blondeau, C B Hamida, S Belal, M Tazir, E Demir, H Topaloglu, R Korinthenberg, B Tüysüz, P Landrieu, F Hentati & M Koenig doi:10.1038/81701 Web Table A (PDF 128k)
Volume 26 Issue 2 2000
Prediction of protein interactions: metabolic enzymes are frequently involved in gene fusion pp 141 - 142 S Tsoka & C A Ouzounis doi:10.1038/79847 Web Figure A (PDF 128k)
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus pp 163 - 175 Y Horikawa, N Oda, N J Cox, X Li, M Orho-Melander, M Hara, Y Hinokio, T H Lindner, H Mashima, P E Schwarz, L del Bosque-Plata, Y Horikawa, Y Oda, I Yoshiuchi, S Colilla, K S Polonsky, S Wei, P Concannon, N Iwasaki, J Schulze, L J Baier, C Bogardus, L Groop, E Boerwinkle, C L Hanis & G I Bell doi:10.1038/79876 Web Tables A (PDF 128k)
Dichotomy of single-nucleotide polymorphism haplotypes in olfactory receptor genes and pseudogenes pp 221 - 224 Y Gilad, D Segré, K Skorecki, M W Nachman, D Lancet & D Sharon doi:10.1038/79957 Web Table A (PDF 128k)
Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences pp 233 - 236 K Irizarry, V Kustanovich, C Li, N Brown, S Nelson, W Wong & C J Lee doi:10.1038/79981 Web Table A (PDF 128k)
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene pp 237 - 241 T O Akama, K Nishida, J Nakayama, H Watanabe, K Ozaki, T Nakamura, A Dota, S Kawasaki, Y Inoue, N Maeda, S Yamamoto, T Fujiwara, E J-M A Thonar, Y Shimomura, S Kinoshita, A Tanigami & M N Fukuda doi:10.1038/79987 Web Methods (PDF 32k)
Volume 26 Issue 1 2001
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C pp 51 - 55 E Verpy, M Leibovici, I Zwaenepoel, X -Z Liu, A Gal, N Salem, A Mansour, S Blanchard, I Kobayashi, B J B Keats, R Slim &aamp; C Petit doi:10.1038/79171 Web Table 1 (PDF 32k)
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene pp 56 - 60 M Bitner-Glindzicz, K J Lindley, P Rutland, D Blaydon, V V Smith, P J Milla, K Hussain, J Furth-Lavi, K E Cosgrove, R M Shepherd, P D Barnes, R E O'Brien, P A Farndon, J Sowden, X -Z Liu, M J Scanlan, S Malcolm, M J Dunne, A Aynsley-Green & B Glaser doi:10.1038/79178 Web Table 1 (PDF 64k)
Heterozygous germline mutations in BMPR2, encoding a TGF-ß receptor, cause familial primary pulmonary hypertension pp 81 - 84 doi:10.1038/79226 Web Table 1 (PDF 64k)
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects pp 109 - 113 K M Reilly, D A Loisel, R T Bronson, M E McLaughlin & T Jacks doi:10.1038/79075 Web Table 1 (PDF 32k)
Identification of the gene causing mucolipidosis type IV pp 118 - 123 R Bargal, N Avidan, E Ben-Asher, Z Olender, M Zeigler, A Frumkin, A Raas-Rothschild, G Glusman, D Lancet & G Bach doi:10.1038/79095 Web Sequence and Table (PDF 128k)
Volume 25 Issue 4 2000
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa pp 462 - 466 R Vervoort, A Lennon, A C Bird, B Tulloch, R Axton, M G Miano, A Meindl, T Meitinger, A Ciccodicola & A F Wright doi:10.1038/78182 Web Sequence (PDF 128k)
EIF2AK3, encoding translation initiation factor 2- kinase 3, is mutated in patients with Wolcott-Rallison syndromepp 406 - 409 M Delépine, M Nicolino, T Barrett, M Golamaully, G Mark Lathrop & C Julier doi:10.1038/78085 Web Tables (PDF 64k)
Genome-wide, large-scale production of mutant mice by ENU mutagenesis pp 444 - 447 M H de Angelis, H Flaswinkel, H Fuchs, B Rathkolb, D Soewarto, S Marschall, S Heffner, W Pargent, K Wuensch, M Jung, A Reis, T Richter, F Alessandrini, T Jakob, E Fuchs, H Kolb, E Kremmer, K Schaeble, B Rollinski, A Roscher, C Peters, T Meitinger, T Strom, T Steckler, F Holsboer, T Klopstock, F Gekeler, C Schindewolf, T Jung, K Avraham, H Behrendt, J Ring, A Zimmer, K Schughart, K Pfeffer, E Wolf & R Balling doi:10.1038/78146 Web Tables (PDF 128k)
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 pp 397 - 401 E Ferda Percin, L A Ploder, J J Yu, K Arici, D Jonathan Horsford, A Rutherford, B Bapat, D W Cox, A M V Duncan, V I Kalnins, A Kocak-Altintas, J C Sowden, E Traboulsi, M Sarfarazi & R R McInnes doi:10.1038/78071 Web Methods (PDF 64k)
Volume 25 Issue 3 2000
Genetic basis of total colourblindness among the Pingelapese islanders pp 289 - 293 O H Sundin, J-M Yang, Y Li, D Zhu, J N Hurd, T N Mitchell, E D Silva & I H Maumenee doi:10.1038/77162 Web Table 1 (PDF 128k)
Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloning pp 255 - 257 R Steinborn, P Schinogl, V Zakhartchenko, R Achmann, W Schernthaner, M Stojkovic, E Wolf, M Müller & G Brem doi:10.1038/77000 Oligonucleotide sequences (PDF 128k)
Volume 25 Issue 2 2000
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence pp 235 - 238 H Roest Crollius, O Jaillon, A Bernot, C Dasilva, L Bouneau, C Fischer, C Fizames, P Wincker, P Brottier, F Quétier, W Saurin & J Weissenbach doi:10.1038/76118 Web Table 1 (PDF 128k)
Gene Index analysis of the human genome estimates approximately 120,000 genes pp 239 - 240 F Liang, I Holt, G Pertea, S Karamycheva, S L Salzberg & J Quackenbush doi:10.1038/76126 Web Tables 1 and 2 (PDF 64k)
Gene Index analysis of the human genome estimates approximately 120,000 genes pp 239 - 240 F Liang, I Holt, G Pertea, S Karamycheva, S L Salzberg & J Quackenbush doi:10.1038/76126 Web Figure 1a (PDF 32k)
Gene Index analysis of the human genome estimates approximately 120,000 genes pp 239 - 240 F Liang, I Holt, G Pertea, S Karamycheva, S L Salzberg & J Quackenbush doi:10.1038/76126 Web Figure 1b (PDF 32k)
Gene Index analysis of the human genome estimates approximately 120,000 genes pp 239 - 240 F Liang, I Holt, G Pertea, S Karamycheva, S L Salzberg & J Quackenbush doi:10.1038/76126 Web Figure 1c (PDF 32k)
Volume 25 Issue 1 2000
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 pp 17 - 19 A Bolino, M Muglia, F L Conforti, E LeGuern, M A M Salih, D -M Georgiou, K Christodoulou, I Hausmanowa-Petrusewicz, P Mandich, A Schenone, A Gambardella, F Bono, A Quattrone, M Devoto & A P Monaco doi:10.1038/75542 Web Table 1 (PDF 128k)
Transcript imaging of the development of human T helper cells using oligonucleotide arrays pp 96 - 101 L Rogge, E Bianchi, M Biffi, E Bono, S -Y P Chang, H Alexander, C Santini, G Ferrari, L Sinigaglia, M Seiler, M Neeb, J Mous, F Sinigaglia & U Certa doi:10.1038/75671 Web Table 2 (PDF 64k)
Volume 24 Issue 4 2000
Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells pp 372 - 376 Article Title pp 281H Niwa, J Miyazaki & A G Smith doi:10.1038/74199 Web Movie (HTM 2MB)
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome pp 349 - 354 N Boute, O Gribouval, S Roselli, F Benessy, H Lee, A Fuchshuber, K Dahan, M -C Gubler, P Niaudet & C Antignac doi:10.1038/74166 Web Table 1 (PDF 128k)
A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genome pp 339 - 340 I R Kirsch, E D Green, R Yonescu, R Strausberg, N Carter, D Bentley, M A Leversha, I Dunham, V V Braden, E Hilgenfeld, G Schuler, A E Lash, G L Shen, M Martelli, W M Kuehl, R D Klausner & T Ried doi:10.1038/74149 Web Table and Figures (PDF 64k)
Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells pp 372 - 376 H Niwa, J Miyazaki & A G Smith doi:10.1038/74199 Web Table and Figures (PDF 128k)
Volume 24 Issue 3 2000
Mutations truncating the EP300 acetylase in human cancers pp 300 - 303
S A Gayther, S J Batley, L Linger, A Bannister, K Thorpe, S -F Chin, Y Daigo, P Russell, A Wilson, H M Sowter, J D A Delhanty, B A J Ponder, T Kouzarides & C Caldas doi:10.1038/73536 Web Table 1 (PDF 128k)
AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1 pp 245 - 250 S Satoh, Y Daigo, Y Furukawa, T Kato, N Miwa, T Nishiwaki, T Kawasoe, H Ishiguro, M Fujita, T Tokino, Y Sasaki, S Imaoka, M Murata, T Shimano, Y Yamaoka & Y Nakamura doi:10.1038/73448 Web Table 1 (PDF 64k)
Volume 24 Issue 2 2000
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation pp 167 - 170 R Zemni, T Bienvenu, M C Vinet, A Sefiani, A Carrié, P Billuart, N McDonell, P Couvert, F Francis, P Chafey, F Fauchereau, G Friocourt, V d Portes, A Cardona, S Frints, A Meindl, O Brandau, N Ronce, C Moraine, H v Bokhoven, H H Ropers, R Sudbrak, A Kahn, J P Fryns, C Beldjord & J Chelly doi:10.1038/72829 Web Table 1 (PDF 32k)
A genome-wide survey of RAS transformation targets pp 144 - 152 J Zuber, O I Tchernitsa, B Hinzmann, A-C Schmitz, M Grips, M Hellriegel, C Sers, A Rosenthal & R Schäfer doi:10.1038/72799 Web Tables and Figures (PDF 128k)
Volume 24 Issue 1 2000
Control of endodermal endocrine development by Hes-1 pp 36 - 44 J Jensen, E E Pedersen, P Galante, J Hald, R S Heller, M Ishibashi, R Kageyama, F Guillemot, P Serup & O D Madsen doi:10.1038/71657 Web Tables and Figures (PDF 128k)
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability pp 27 - 35 S M Lipkin, V Wang, R Jacoby, S Banerjee-Basu, A D Baxevanis, H T Lynch, R M Elliott & F S Collins doi:10.1038/71643 Web Figures (PDF 264k)
Genealogies of mouse inbred strains pp 23 - 25 J A Beck, S Lloyd, M Hafezparast, M Lennon-Pierce, J T Eppig, M F W Festing & E M C Fisher doi:10.1038/71641 Key to the charts of strain genealogies (PDF 264k)
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12 pp 391 - 392 S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner, A H Sharp, U Ananth, W K Seltzer, M A Boss, A -M Vieria-Saecker, J T Epplen, O Riess, C A Ross & R L Margolis doi:10.1038/70493 Primers for PPP2R2B (PDF 32k)
Analysis of human transcriptomes pp 387 - 388 V E Velculescu, S L Madden, L Zhang, A E Lash, J Yu, C Rago, A Lal, C J Wang, G A Beaudry, K M Ciriello, B P Cook, M R Dufault, A T Ferguson, Y Gao, T -C He, H Hermeking, S K Hiraldo, P M Hwang, M A Lopez, H F Luderer, B Mathews, J M Petroziello, K Polyak, L Zawel, W Zhang, X Zhang, W Zhou, F G Haluska, J Jen, S Sukumar, G M Landes, G J Riggins, B Vogelstein & K W Kinzler doi:10.1038/70487 Web Methods and Tables (PDF 64 k)
Volume 23 Issue 3 1999
Colour-changing karyotyping: an alternative to M-FISH/SKY pp 263 - 264 O Henegariu, N A Heerema, P Bray-Ward & D C Ward doi:10.1038/15437 Web Methods (PDF 128k)
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results pp 271 - 272 A T Merryweather-Clarke, J J Pointon, J D Shearman, K J H Robson, A M Jouanolle, A Mosser, V David, J -Y Le Gall, D J Halsall, T S Elsey, A Kelly, T M Cox, M Clare, A Bomford, J L Vandwalle, J Rochette, N Borot, H Coppin, M -P Roth, E Ryan, J Crowe, A Totaro, P Gasparini, A Roetto, C Camaschella, C Darke, D F Wallace, K Saeb-Parsy, J S Dooley, M Worwood & A P Walker doi:10.1038/15452 C282Y and IVS4+48G/A genotypes of European samples (PDF 264k)
Meiotic instability of human minisatellite CEB1 in yeast requires DNA double-strand breaks pp 367 - 371 H Debrauwère, J Buard, J Tessier, D Aubert, G Vergnaud & A Nicolas doi:10.1038/15557 Web Figure 5 (PDF 643k)
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results pp 271 - 272 W W Noll, D R Belloni, T T Stenzel & W W Grody doi:10.1038/15722 Web Figure 1 (PDF 32k)
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-
coxa vara-pericarditis syndrome pp 319 - 322 J Marcelino, J D Carpten, W M Suwairi, O M Gutierrez, S Schwartz, C Robbins, R Sood, I Makalowska, A Baxevanis, B Johnstone, R M Laxer, L Zemel, C A Kim, J K Herd, J Ihle, C Williams, M Johnson, V Raman, L G Alonso, D Brunoni, A Gerstein, N Papadopoulos, S A Bahabri, J M Trent & M L Warman doi:10.1038/15496 CACP Primers (PDF 243k)
Volume 23 Issue 2 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) pp 217 - 221 A I den Hollander, J B ten Brink, Y J M de Kok, S van Soest, L I van den Born, M A van Driel, D J R van de Pol, A M Payne, S S Bhattacharya, U Kellner, C B Hoyng, A Westerveld, H G Brunner, E M Bleeker-Wagemakers, A F Deutman, J R Heckenlively, F P M Cremers & A A B Bergen doi:10.1038/13848 Primer pairs and PCR conditions for mutation analysis of the ORF and splice junctions of CRB1 (PDF 256k)
Familial endometrial cancer in female carriers of MSH6 germline mutations pp 142 - 144 J Wijnen, W D Leeuw, H Vasen, H V D Klift, P Møller, A Stormorken, H Meijers-Heijboer, D Lindhout, F Menko, S Vossen, G Möslein, C Tops, A Bröcker-Vriends, Y Wu, R Hofstra, R Sijmons, C Cornelisse, H Morreau & R Fodde doi:10.1038/13773 Clinical features of HNPCC due to MMR gene mutations (32k)
Familial endometrial cancer in female carriers of MSH6 germline mutations pp 142 - 144 J Wijnen, W D Leeuw, H Vasen, H V D Klift, P Møller, A Stormorken, H Meijers-Heijboer, D Lindhout, F Menko, S Vossen, G Möslein, C Tops, A Bröcker-Vriends, Y Wu, R Hofstra, R Sijmons, C Cornelisse, H Morreau & R Fodde doi:10.1038/13773 Missense mutations and novel polymorphisms at MSH6 (PDF 56k)
Familial endometrial cancer in female carriers of MSH6 germline mutations pp 142 - 144 J Wijnen, W D Leeuw, H Vasen, H V D Klift, P Møller, A Stormorken, H Meijers-Heijboer, D Lindhout, F Menko, S Vossen, G Möslein, C Tops, A Bröcker-Vriends, Y Wu, R Hofstra, R Sijmons, C Cornelisse, H Morreau & R Fodde doi:10.1038/13773 Pedigrees of HNPCC families with truncating MSH6 mutations (PDF 234k)
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia pp 166 - 175 W-J Song, M G Sullivan, R D Legare, S Hutchings, X Tan, D Kufrin, J Ratajczak, I C Resende, C Haworth, R Hock, M Loh, C Felix, D-C Roy, L Busque, D Kurnit, C Willman, A M Gewirtz, N A Speck, J H Bushweller, F P Li, K Gardiner, M Poncz, J M Maris & D G Gilliland doi:10.1038/13793 Primers for haplotype analysis, CBFA2 amplification and sequencing (PDF 87k)
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia pp 166 - 175 W-J Song, M G Sullivan, R D Legare, S Hutchings, X Tan, D Kufrin, J Ratajczak, I C Resende, C Haworth, R Hock, M Loh, C Felix, D-C Roy, L Busque, D Kurnit, C Willman, A M Gewirtz, N A Speck, J H Bushweller, F P Li, K Gardiner, M Poncz, J M Maris & D G Gilliland doi:10.1038/13793 Amplification and sequencing primers for CBFA2 grouped by exon (PDF 128k)
Volume 23 Issue 1 1999
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia pp 94 - 98 J R Hurvitz, W M Suwairi, W Van Hul, H El-Shanti, A Superti-Furga, J Roudier, D Holderbaum, R M Pauli, J K Herd, E V Hul, H Rezai-Delui, E Legius, M Le Merrer, J Al-Alami, S A Bahabri & M L Warman doi:10.1038/12699 Primers for haplotype analysis, CBFA2 amplification and sequencing (PDF 64k)
A radiation hybrid map of the zebrafish genome pp 86 - 89 R Geisler, G -J Rauch, H Baier, F V van Bebber, L Bro, M P S Dekens, K Finger, C Fricke, M A Gates, H Geiger, S Geiger-Rudolph, D Gilmour, S Glaser, L Gnügge, H Habeck, K Hingst, S Holley, J Keenan, A Kirn, H Knaut, D Lashkari, F Maderspacher, U Martyn, S Neuhauss, C Neumann, T Nicolson, F Pelegri, R Ray, J M Rick, H Roehl, T Roeser, H E Schauerte, A F Schier, U Schönberger, H -B Schönthaler, S Schulte-Merker, C Seydler, W S Talbot, C Weiler, C Nüsslein-Volhard & P Haffter doi:10.1038/12692 Radiation hybrid map of zebrafish chromosome LG1-LG25 anchored to the genetic map (PDF 128k)
A radiation hybrid map of the zebrafish genome pp 86 - 89 R Geisler, G-J Rauch, H Baier, F V van Bebber, L Bro, M P S Dekens, K Finger, C Fricke, M A Gates, H Geiger, S Geiger-Rudolph, D Gilmour, S Glaser, L Gnügge, H Habeck, K Hingst, S Holley, J Keenan, A Kirn, H Knaut, D Lashkari, F Maderspacher, U Martyn, S Neuhauss, C Neumann, T Nicolson, F Pelegri, R Ray, J M Rick, H Roehl, T Roeser, H E Schauerte, A F Schier, U Schönberger, H-B Schönthaler, S Schulte-Merker, C Seydler, W S Talbot, C Weiler, C Nüsslein-Volhard & P Haffter doi:10.1038/12692 Primer sequences (PDF 64k)
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy pp 199 - 202 E M Stone, A J Lotery, F L Munier, E Héon, B Piguet, R H Guymer, K Vandenburgh, P Cousin, D Nishimura, R E Swiderski, G Silvestri, D A Mackey, G S Hageman, A C Bird, V C Sheffield & D F Schorderet doi:10.1038/9722 Table 1 - primer sequences (PDF 128k)
Volume 21 Issue 4 1999
Comparative genomes of Chlamydia pneumoniae and C. trachomatis pp 385 - 389 S Kalman, W Mitchell, R Marathe, C Lammel, J Fan, R W Hyman, L Olinger, J Grimwood, R W Davis & R S Stephens doi:10.1038/7716 Web Table 1 (GIF 64k)
-sarcoglycan cause myoclonus–dystonia syndrome
-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
kinase 3, is mutated in patients with Wolcott-Rallison syndrome
