Items where Subject is "bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations"

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Number of items at this level: 150.

A

Aberg, K., Adkins, D. E., Bukszár, J., Webb, B. T., Caroff, S. N., Miller, D. D., Sebat, J., Stroup, S., Fanous, A. H., Vladimirov, V. I., McClay, J. L., Lieberman, J. A., Sullivan, P. F., van den Oord, E. J. C. G. (2010) Genomewide Association Study of Movement-Related Adverse Antipsychotic Effects. Biological Psychiatry, 67 (3). pp. 279-282.

Agaram, N. P., Besmer, P., Wong, G. C., Guo, T., Socci, N. D., Maki, R. G., DeSantis, D., Brennan, M. F., Singer, S., DeMatteo, R. P., Antonescu, C. R. (2007) Pathologic and molecular heterogeneity in imatinib-stable or imatinib-responsive gastrointestinal stromal tumors. Clin Cancer Res, 13 (1). pp. 170-81. ISSN 1078-0432 (Print)1078-0432 (Linking)

Ando, S., Sarlis, N. J., Krishnan, J., Feng, X., Refetoff, S., Zhang, M. Q., Oldfield, E. H., Yen, P. M. (2001) Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Molecular Endocrinology, 15 (9). pp. 1529-1538. ISSN 0888-8809

Antonescu, C. R., Besmer, P., Guo, T., Arkun, K., Hom, G., Koryotowski, B., Leversha, M. A., Jeffrey, P. D., Desantis, D., Singer, S., Brennan, M. F., Maki, R. G., DeMatteo, R. P. (2005) Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. Clin Cancer Res, 11 (11). pp. 4182-90. ISSN 1078-0432 (Print)1078-0432 (Linking)

Antonescu, C. R., Sommer, G., Sarran, L., Tschernyavsky, S. J., Riedel, E., Woodruff, J. M., Robson, M., Maki, R., Brennan, M. F., Ladanyi, M., DeMatteo, R. P., Besmer, P. (2003) Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res, 9 (9). pp. 3329-37. ISSN 1078-0432 (Print)1078-0432 (Linking)

Atwal, G. S. (2012) Talk from Mickey Atwal at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)

B

Bargonetti, J., Manfredi, J. J., Chen, X. B., Marshak, D. R., Prives, C. (1993) A Proteolytic Fragment from the Central Region of P53 Has Marked Sequence-Specific DNA-Binding Activity When Generated from Wild-Type but Not from Oncogenic Mutant P53-Protein. Genes Dev, 7 (12B). pp. 2565-2574. ISSN 0890-9369

Bazarov, A. V., van Sluis, M., Hines, W. C., Bassett, E., Beliveau, A., Campeau, E., Mukhopadhyay, R., Lee, W. J., Melodyev, S., Zaslavsky, Y., Lee, L., Rodier, F., Chicas, A., Lowe, S. W., Benhattar, J., Ren, B., Campisi, J., Yaswen, P. (2010) p16(INK4a)-mediated suppression of telomerase in normal and malignant human breast cells. Aging Cell, 9 (5). pp. 736-746. ISSN 1474-9718

Bell, D. W., Gore, I., Okimoto, R. A., Godin-Heymann, N., Sordella, R., Mulloy, R., Sharma, S. V., Brannigan, B. W., Mohapatra, G., Settleman, J., Haber, D. A. (2005) Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nature Genetics, 37 (12). pp. 1315-6. ISSN 1061-4036

Belvin, M. P., Zhou, H., Yin, J. C. (1999) The Drosophila dCREB2 gene affects the circadian clock. Neuron, 22 (4). pp. 777-87. ISSN 0896-6273 (Print)

Bernard Chera, T.H. , Sing Chana, H. , Kleinb, G. F. , Jabkowskib, J. , Schadenböck-Kranzlc, G. , Zachd, O. , Roca, X., Alex Law, S.K. (2011) A novel 3′ splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1star, open. Biochemical and Biophysical Research Communications, 404 (4). pp. 1099-1104. ISSN 0006-291X

Blakeslee, Albert Francis (1920) Mutations in mucors. The Journal of Heredity, 11 (6). pp. 278-284.

Blakeslee, Albert Francis (1920) A dwarf mutation in portulaca showing vegetative reversions. Genetics, 5.

Boehm, J. S., Ehrlich, I., Hsieh, H., Malinow, R. (2006) Two mutations preventing PDZ-protein interactions of GluR1 have opposite effects on synaptic plasticity. Learn Mem, 13 (5). pp. 562-5. ISSN 1072-0502 (Print)

Bolduc, F. V., Valente, D., Nguyen, A. T., Mitra, P. P., Tully, T. (2010) An assay for social interaction in Drosophila fragile X mutants. Fly (Austin), 4 (3). ISSN 1933-6942 (Electronic) 1933-6934 (Linking)

Boles, M. K., Wilkinson, B. M., Maxwell, A., Lai, L., Mills, A. A., Nishijima, I., Salinger, A. P., Moskowitz, I., Hirschi, K. K., Liu, B., Bradley, A., Justice, M. J. (2009) A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines. BMC Genet, 10 (1). p. 12.

Brown, P., Goldfarb, L. G., McCombie, W. R., Nieto, A., Squillacote, D., Sheremata, W., Little, B. W., Godec, M. S., Gibbs Jr, C. J., Gajdusek, D. C. (1992) Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. Neurology, 42 (2). pp. 422-427. ISSN 00283878 (ISSN)

Brumby, A. M., Goulding, K. R., Schlosser, T., Loi, S., Galea, R., Khoo, P., Bolden, J. E., Aigaki, T., Humbert, P. O., Richardson, H. E. (2011) Identification of novel Ras-cooperating oncogenes in Drosophila melanogaster: A RhoGEF/Rho-family/JNK pathway is a central driver of tumorigenesis. Genetics, 188 (1). pp. 105-125. ISSN 00166731 (ISSN)

Budziszewski, G. J., Lewis, S. P., Glover, L. W., Reineke, J., Jones, G., Ziemnik, L. S., Lonowski, J., Nyfeler, B., Aux, G., Zhou, Q., McElver, J., Patton, D. A., Martienssen, R., Grossniklaus, U., Ma, H., Law, M., Levin, J. Z. (2001) Arabidopsis genes essential for seedling viability: Isolation of Insertional mutants and molecular cloning. Genetics, 159 (4). pp. 1765-1778. ISSN 0016-6731

Buratti, E., Chivers, M., Královičová, J., Romano, M., Baralle, M., Krainer, Adrian R., Vořechovský, I. (2007) Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res, 35 (13). pp. 4250-4263. ISSN 1362-4962 (Electronic)

Burgess, R., Yang, Z. (2008) Estimation of hominoid ancestral population sizes under Bayesian coalescent models incorporating mutation rate variation and sequencing errors. Molecular Biology and Evolution, 25 (9). pp. 1979-1994. ISSN 0737-4038

C

Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., Krainer, A. R. (2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet, 78 (1). pp. 63-77. ISSN 0002-9297 (Print)

Casso, D., Beach, D. (1996) A mutation in a thioredoxin reductase homolog suppresses p53-induced growth inhibition in the fission yeast Schizosaccharomyces pombe. Mol Gen Genet, 252 (5). pp. 518-29. ISSN 0026-8925 (Print)

Chakraborty, A. A., Scuoppo, C., Dey, S., Thomas, L. R., Lorey, S. L., Lowe, S. W., Tansey, W. P. (2015) A common functional consequence of tumor-derived mutations within c-MYC. Oncogene, 34. pp. 2406-2409. ISSN 0950-9232

Chapman, P. F., Frenguelli, B. G., Smith, A., Chen, C. M., Silva, A. J. (1995) The alpha-Ca2+/calmodulin kinase II: a bidirectional modulator of presynaptic plasticity. Neuron, 14 (3). pp. 591-7. ISSN 0896-6273 (Print)

Cheloufi, S., Dos Santos, C. O., Chong, M. M. W., Hannon, G. J. (2010) A Dicer-independent miRNA biogenesis pathway that requires Ago catalysis. Nature, 465 (7298). 584-U76. ISSN 0028-0836

Chen, J. F., Murchison, E. P., Tang, R., Callis, T. E., Tatsuguchi, M., Deng, Z., Rojas, M., Hammond, S. M., Schneider, M. D., Selzman, C. H., Meissner, G., Patterson, C., Hannon, G. J., Wang, D. Z. (2008) Targeted deletion of Dicer in the heart leads to dilated cardiomyopathy and heart failure. Proc Natl Acad Sci U S A, 105 (6). pp. 2111-2116. ISSN 0027-8424

Chen, L., Powers, S. (1994) A mutation in the effector region of Ras2 can be partially suppressed by alteration of a 'nonessential' region of Ras. Gene, 147 (1). pp. 107-10. ISSN 0378-1119 (Print)0378-1119

Chen, S., Auletta, T., Dovirak, O., Hutter, C., Kuntz, K., El-Ftesi, S., Kendall, J., Han, H., Von Hoff, D. D., Ashfaq, R., Maitra, A., Iacobuzio-Donahue, C. A., Hruban, R. H., Lucito, R. (2008) Copy number alterations in pancreatic cancer identify recurrent PAK4 amplification. Cancer Biol Ther, 7 (11). pp. 1793-1802.

Chicas, A., Wang, X., Zhang, C., McCurrach, M. E., Zhao, Z., Mert, O., Dickins, R. A., Narita, M., Zhang, M. Q., Lowe, S. W. (2010) Dissecting the Unique Role of the Retinoblastoma Tumor Suppressor during Cellular Senescence. Cancer Cell, 17 (4). pp. 376-387.

Clouston, W. M. (1990) The angiotensinogen gene of Swiss mice is closely linked to a retrovirus-like element. DNA and Cell Biology, 9 (9). pp. 623-630. ISSN 1044-5498

Colicelli, J., Field, J., Ballester, R., Chester, N., Young, D., Wigler, M. H. (1990) Mutational mapping of RAS-responsive domains of the Saccharomyces cerevisiae adenylyl cyclase. Molecular & Cellular Biology, 10 (6). pp. 2539-43. ISSN 0270-7306

Connelly, J. J., Yuan, P., Hsu, H. C., Li, Z., Xu, R. M., Sternglanz, R. (2006) Structure and function of the Saccharomyces cerevisiae Sir3 BAH domain. Mol Cell Biol, 26 (8). pp. 3256-65. ISSN 0270-7306 (Print)

Cottarel, G. (1995) The Saccharomyces cerevisiae HIS3 and LYS2 genes complement the Schizosaccharomyces pombe his5-303 and lys1-131 mutations, respectively: new selectable markers and new multi-purpose multicopy shuttle vectors, pSP3 and pSP4. Curr Genet, 28 (4). pp. 380-3. ISSN 0172-8083 (Print)

D

Davey, S., Beach, D. (1995) RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation. Mol Biol Cell, 6 (10). pp. 1411-21. ISSN 1059-1524 (Print)

DeZazzo, J., Xia, S., Christensen, J., Velinzon, K., Tully, T. (1999) Developmental expression of an amn(+) transgene rescues the mutant memory defect of amnesiac adults. Journal of Neuroscience, 19 (20). pp. 8740-6. ISSN 1529-2401 (Electronic)

Degenhardt, Y. Y., Wooster, R., McCombie, R. W., Lucito, R., Powers, S. (2008) High-content analysis of cancer genome DNA alterations. Current Opinion in Genetics & Development, 18 (1). pp. 68-72.

Di Como, C. J., Bose, R., Arndt, K. T. (1995) Overexpression of SIS2, which contains an extremely acidic region, increases the expression of SWI4, CLN1 and CLN2 in sit4 mutants. Genetics, 139 (1). pp. 95-107. ISSN 0016-6731 (Print)

Di Como, C. J., Chang, H., Arndt, K. T. (1995) Activation of CLN1 and CLN2 G1 cyclin gene expression by BCK2. Mol Cell Biol, 15 (4). pp. 1835-46. ISSN 0270-7306 (Print)

Dow, L. E., Elsum, I. A., King, C. L., Kinross, K. M., Richardson, H. E., Humbert, P. O. (2008) Loss of human Scribble cooperates with H-Ras to promote cell invasion through deregulation of MAPK signalling. Oncogene, 27 (46). pp. 5988-6001.

E

Edvardson, S., Shaag, A., Zenvirt, S., Erlich, Y., Hannon, G. J., Shanske, A. L., Gomori, J. M., Ekstein, J., Elpeleg, O. (2010) Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation. American Journal of Human Genetics, 86 (1). pp. 93-97.

Elliott, B., Haltiwanger, R. S., Futcher, B. (1996) Synergy between trehalose and Hsp104 for thermotolerance in Saccharomyces cerevisiae. Genetics, 144 (3). pp. 923-33. ISSN 0016-6731 (Print)

F

Fahy, E., Barringer, K. J., Kwoh, D. Y., Prodanovich, P., Gingeras, T. R. (1996) The self-sustained sequence replication (3SR) reaction and its application to the detection of mutations associated with Zidovudine resistance in HIV-1. In: PCR Protocols and Applications: Laboratory Manual. Academic Press, New York. ISBN 9780080886718

Fanta, S., Sonnenberg, M., Skorta, I., Duyster, J., Miething, C., Aulitzky, W. E., van der Kuip, H. (2008) Pharmacological inhibition of c-Abl compromises genetic stability and DNA repair in Bcr-Abl-negative cells. Oncogene, 27 (31). pp. 4380-4384. ISSN 0950-9232

Farrar, J. E., Nater, M., Caywood, E., McDevitt, M. A., Kowalski, J., Takemoto, C. M., Talbot, C. C., Meltzer, P., Esposito, D., Beggs, A. H., Schneider, H. E., Grabowska, A., Ball, S. E., Niewiadomska, E., Sieff, C. A., Vlachos, A., Atsidaftos, E., Ellis, S. R., Lipton, J. M., Gazda, H. T., Areci, R. J. (2008) Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia. Blood, 112 (5). pp. 1582-1592. ISSN 0006-4971

Fasano, O., Aldrich, T., Tamanoi, F., Taparowsky, E., Furth, M., Wigler, M. H. (1984) Analysis of the transforming potential of the human H-ras gene by random mutagenesis. Proceedings of the National Academy of Sciences of the United States of America, 81 (13). pp. 4008-4012.

Feigin, M. E., Malbon, C. C. (2008) OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling. Cell Signal, 20 (5). 949-957 .

Feike, D., Seung, D., Graf, A., Bischof, S., Ellick, T., Coiro, M., Soyk, S., Eicke, S., Mettler-Altmann, T., Lu, K. J., Trick, M., Zeeman, S. C., Smith, A. M. (2016) The Starch Granule-Associated Protein EARLY STARVATION1 Is Required for the Control of Starch Degradation in Arabidopsis thaliana Leaves. Plant Cell, 28 (6). pp. 1472-89. ISSN 1532-298X (Electronic)1040-4651 (Linking)

Ford, E., Strubin, M., Hernandez, N. (1998) The Oct-1 POU domain activates snRNA gene transcription by contacting a region in the SNAPc largest subunit that bears sequence similarities to the Oct-1 coactivator OBF-1. Genes and Development, 12 (22). pp. 3528-40. ISSN 08909369 (ISSN)

G

Gluzman, Y., Frisque, R. J., Sambrook, J. (1980) Origin-defective mutants of SV40. Cold Spring Harb Symp Quant Biol, 44 Pt . pp. 293-300. ISSN 0091-7451 (Print)0091-7451 (Linking)

Goldfarb, L. G., Brown, P., Haltia, M., Cathala, F., McCombie, W. R., Kovanen, J., Červeňáková, L., Goldin, L., Nieto, A., Godec, M. S., Asher, D. M., Gajdusek, D. C. (1992) Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin. Annals of neurology, 31 (3). pp. 274-281. ISSN 03645134 (ISSN)

Goldfarb, L. G., Brown, P., Nuez, A. N., McCombie, W. R., Goldgaber, D., Asher, D. M., Gaidusek, D. C. (1991) FAMILIAL CREUTZFELDT-JAKOB DISEASE IS ASSOCIATED WITH 3 SEPARATE MUTATIONS. American Journal of Human Genetics, 49 (4). p. 188. ISSN 0002-9297

Goldfarb, L. G., Brown, P., Vrbovska, A., Baron, H., McCombie, W. R., Cathala, F., Gibbs Jr, C. J., Gajdusek, D. C. (1992) An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Straussler-Scheinker family. Journal of the Neurological Sciences, 111 (2). pp. 189-194. ISSN 0022510X (ISSN)

Grossniklaus, U., Vielle-Calzada, J. P., Hoeppner, M. A., Gagliano, W. B. (1998) Maternal control of embryogenesis by MEDEA, a polycomb group gene in Arabidopsis. Science, 280 (5362). pp. 446-50. ISSN 0036-8075 (Print)

Gulko, B., Hubisz, M. J., Gronau, I., Siepel, A. (2015) A method for calculating probabilities of fitness consequences for point mutations across the human genome. Nature Genetics, 47 (3). pp. 276-283. ISSN 1061-4036

Guo, T., Agaram, N. P., Wong, G. C., Hom, G., D'Adamo, D., Maki, R. G., Schwartz, G. K., Veach, D., Clarkson, B. D., Singer, S., DeMatteo, R. P., Besmer, P., Antonescu, C. R. (2007) Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. Clin Cancer Res, 13 (16). pp. 4874-81. ISSN 1078-0432 (Print)1078-0432 (Linking)

Guo, T., Hajdu, M., Agaram, N. P., Shinoda, H., Veach, D., Clarkson, B. D., Maki, R. G., Singer, S., Dematteo, R. P., Besmer, P., Antonescu, C. R. (2009) Mechanisms of sunitinib resistance in gastrointestinal stromal tumors harboring KITAY502-3ins mutation: an in vitro mutagenesis screen for drug resistance. Clin Cancer Res, 15 (22). pp. 6862-70. ISSN 1078-0432 (Print)1078-0432 (Linking)

H

Haber, D. A., Bell, D. W., Sordella, R., Kwak, E. L., Godin-Heymann, N., Sharma, S. V., Lynch, T. J., Settleman, J. (2005) Molecular targeted therapy of lung cancer: EGFR mutations and response to EGFR inhibitors. Cold Spring Harbor Symposia on Quantitative Biology, 70. pp. 419-26. ISSN 0091-7451

Harris, James Arthur (1921) Tissue weight and water content in a tetracotyledonous mutant of Phaseolus vulgaris. Proceedings of the Society for Experimental Biology and Medicine, 18. pp. 207-209.

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Helfman, D. M., Levy, E. T., Berthier, C., Shtutman, M., Riveline, D., Grosheva, I., Lachish-Zalait, A., Elbaum, M., Bershadsky, A. D. (1999) Caldesmon inhibits nonmuscle cell contractility and interferes with the formation of focal adhesions. Molecular Biology of the Cell , 10 (10). pp. 3097-112. ISSN 1059-1524 (Print)

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I

Iossifov, I., Levy, D., Allen, J., Ye, K., Ronemus, M., Lee, Y. H., Yamrom, B., Wigler, M. (2015) Low load for disruptive mutations in autism genes and their biased transmission. Proc Natl Acad Sci U S A. ISSN 1091-6490 (Electronic)0027-8424 (Linking)

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Joneson, T., White, M. A., Wigler, M. H., Bar-Sagi, D. (1996) Stimulation of membrane ruffling and MAP kinase activation by distinct effectors of RAS. Science, 271 (5250). pp. 810-812. ISSN 0036-8075

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Kassir, Y., Hicks, J. B., Herskowitz, I. (1983) SAD mutation of Saccharomyces cerevisiae is an extra a cassette. Molecular and Cellular Biology, 3 (5). pp. 871-880. ISSN 02707306 (ISSN)

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Lalanne, E., Honys, D., Johnson, A., Borner, G. H. H., Lilley, K. S., Dupree, P., Grossniklaus, U., Twell, D. (2004) SETH1 and SETH2, two components of the glycosylphosphatidylinositol anchor biosynthetic pathway, are required for pollen germination and tube growth in arabidopsis. Plant Cell, 16 (1). pp. 229-240. ISSN 1040-4651

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Madsen, P. P., Kibæk, M., Roca, X., Sachidanandam, R., Krainer, A. R., Christensen, E., Steiner, R. D., Gibson, K. M., Corydon, T. J., Knudsen, I., Wanders, R. J. A., Ruiter, J. P. N., Gregersen, N., Andresen, B. S. (2006) Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Human Genetics, 118 (6). pp. 680-690. ISSN 03406717

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Martienssen, R. (1997) Evolutionary biology - The origin of maize branches out. Nature, 386 (6624). 443&445. ISSN 0028-0836

Mavrakis, K. J., Wolfe, A. L., Oricchio, E., Palomero, T., de Keersmaecker, K., McJunkin, K., Zuber, J., James, T., Chang, K., Khan, A. A., Leslie, C. S., Parker, J. S., Paddison, P. J., Tam, W., Ferrando, A., Wendel, H. G. (2010) Genome-wide RNA-mediated interference screen identifies miR-19 targets in Notch-induced T-cell acute lymphoblastic leukaemia. Nature Cell Biology, 12 (4). 372-U159. ISSN 1465-7392

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