Items where Subject is "mutations"

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. (February 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. (January 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)

Ajiro, Masahiko, Awaya, Tomonari, Kim, Young Jin, Iida, Kei, Denawa, Masatsugu, Tanaka, Nobuo, Kurosawa, Ryo, Matsushima, Shingo, Shibata, Saiko, Sakamoto, Tetsunori, Studer, Rolenz, Krainer, Adrian R, Hagiwara, Masatoshi (July 2021) Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. Nature Communications, 12 (1). p. 4507. ISSN 2041-1723

Allet, B., Katagiri, K. J. (1973) Characterization of Polypeptides Made in-Vitro from Bacteriophage-Lambda DNA. Journal of Molecular Biology, 78 (4). p. 589.

Ando, S., Sarlis, N. J., Krishnan, J., Feng, X., Refetoff, S., Zhang, M. Q., Oldfield, E. H., Yen, P. M. (September 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

Antao, Noelle V, Marcet-Ortega, Marina, Cifani, Paolo, Kentsis, Alex, Foley, Emily A (September 2019) A Cancer-Associated Missense Mutation in PP2A-Aα Increases Centrosome Clustering during Mitosis. iScience, 19. pp. 74-82. ISSN 2589-0042

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. (June 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. (August 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)

Apte, B. N., Rhodes, H., Zipser, D. (September 1975) Mutation blocking the specific degradation of reinitiation polypeptides in E. coli. Nature, 257 (5524). pp. 329-31.

Arbour, KC, Manchado, E, Bott, MJ, Ahn, L, Tobi, Y, Ni, AA, Yu, HA, Shannon, A, Ladanyi, M, Perron, V, Ginsberg, MS, Johnson, A, Holodny, A, Kris, MG, Rudin, CM, Lito, P, Rosen, N, Lowe, S, Riely, GJ (January 2022) Phase 1 Clinical Trial of Trametinib and Ponatinib in Patients With NSCLC Harboring KRAS Mutations. JTO Clinical and Research Reports, 3 (1). p. 100256. ISSN 2666-3643 (In Press)

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 [Video] (Unpublished)

B

Banta, Arthur Mangun, Wood, Thelma Rittenhouse (January 1937) The accumulation of recessive physiological mutations during long-continued parthenogenesis (Abstract). Genetics, 22. pp. 183-184.

Bargonetti, J., Manfredi, J. J., Chen, X. B., Marshak, D. R., Prives, C. (December 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

Baum, Alina, Fulton, Benjamin O, Wloga, Elzbieta, Copin, Richard, Pascal, Kristen E, Russo, Vincenzo, Giordano, Stephanie, Lanza, Kathryn, Negron, Nicole, Ni, Min, Wei, Yi, Atwal, Gurinder S, Murphy, Andrew J, Stahl, Neil, Yancopoulos, George D, Kyratsous, Christos A (August 2020) Antibody cocktail to SARS-CoV-2 spike protein prevents rapid mutational escape seen with individual antibodies. Science, 369 (6506). pp. 1014-1018. ISSN 0036-8075

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. (October 2010) p16(INK4a)-mediated suppression of telomerase in normal and malignant human breast cells. Aging Cell, 9 (5). pp. 736-746. ISSN 1474-9718

Beckwith, Jon, Grodzicker, Terri, Arditti, Rita (1972) Evidence for two sites in the lac promoter region. Journal of Molecular Biology, 69 (1). pp. 155-160.

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. (December 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. (April 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. (January 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

Bertani, Giuseppe (1951) A method for detection of mutations, using streptomycin dependence in Escherichia coli. Genetics, 36 (6). p. 598.

Bigelis, R., Keesey, J. K., Fink, G. R. (1981) The Yeast His4 Multifunctional Protein - Immunochemistry of the Wild-Type Protein and Altered Forms. Journal of Biological Chemistry, 256 (10). pp. 5144-5152.

Blakeslee, Albert Francis (July 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. (September 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. (July 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. (March 2009) A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines. BMC Genet, 10 (1). p. 12.

Bolton, Kelly L, Koh, Youngil, Foote, Michael B, Im, Hogune, Jee, Justin, Sun, Choong Hyun, Safonov, Anton, Ptashkin, Ryan, Moon, Joon Ho, Lee, Ji Yeon, Jung, Jongtak, Kang, Chang Kyung, Song, Kyoung-Ho, Choe, Pyoeng Gyun, Park, Wan Beom, Kim, Hong Bin, Oh, Myoung-Don, Song, Han, Kim, Sugyeong, Patel, Minal, Derkach, Andriy, Gedvilaite, Erika, Tkachuk, Kaitlyn A, Wiley, Brian J, Chan, Ireaneus C, Braunstein, Lior Z, Gao, Teng, Papaemmanuil, Elli, Esther Babady, N, Pessin, Melissa S, Kamboj, Mini, Diaz, Luis A, Ladanyi, Marc, Rauh, Michael J, Natarajan, Pradeep, Machiela, Mitchell J, Awadalla, Philip, Joseph, Vijai, Offit, Kenneth, Norton, Larry, Berger, Michael F, Levine, Ross L, Kim, Eu Suk, Kim, Nam Joong, Zehir, Ahmet (October 2021) Clonal hematopoiesis is associated with risk of severe Covid-19. Nature Communications, 12 (1). p. 5975. ISSN 2041-1723

Bourque, G., Burns, K. H., Gehring, M., Gorbunova, V., Seluanov, A., Hammell, M., Imbeault, M., Izsvak, Z., Levin, H. L., Macfarlan, T. S., Mager, D. L., Feschotte, C. (November 2018) Ten things you should know about transposable elements. Genome Biol, 19 (1). p. 199. ISSN 1474-7596

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)

Bruenn, J., Files, J. G., Weber, K. (1977) Synthesis of 2 Lac Repressor Polypeptides in a Mutant of Escherichia-Coli That Has a New Promoter for Lac Operon Mapping within I Gene. Journal of Molecular Biology, 110 (2). pp. 255-267.

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. (May 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. (December 2001) Arabidopsis genes essential for seedling viability: Isolation of Insertional mutants and molecular cloning. Genetics, 159 (4). pp. 1765-1778. ISSN 0016-6731

Buja, A., Volfovsky, N., Krieger, A. M., Lord, C., Lash, A. E., Wigler, M., Iossifov, I. (February 2018) Damaging de novo mutations diminish motor skills in children on the autism spectrum. Proc Natl Acad Sci U S A, 115 (8). E1859-E1866. ISSN 0027-8424

Bukhari, A. I. (1976) Bacteriophage mu as a transposition element. Annu Rev Genet, 10. pp. 389-412.

Bukhari, A. I. (1975) Reversal of Mutator Phage Mu-Integration. Journal of Molecular Biology, 96 (1). 87-&.

Bukhari, A. I., Allet, B. (1975) Plaque-Forming Lambda-Mu Hybrids. Virology, 63 (1). pp. 30-39.

Bukhari, A. I., Taylor, A. L. (1975) Influence of Insertions on Packaging of Host Sequences Covalently Linked to Bacteriophage-Mu DNA. Proceedings of the National Academy of Sciences of the United States of America, 72 (11). pp. 4399-4403.

Buratti, E., Chivers, M., Královičová, J., Romano, M., Baralle, M., Krainer, Adrian R., Vořechovský, I. (June 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. (September 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

Burgi, Elizabeth (1963) Changes in molecular weight of DNA accompanying mutations in phage. Proceedings of the National Academy of Sciences, 49 (2). p. 151.

C

Calvert, A. E., Chalastanis, A., Wu, Y., Hurley, L. A., Kouri, F. M., Bi, Y., Kachman, M., May, J. L., Bartom, E., Hua, Y., Mishra, R. K., Schiltz, G. E., Dubrovskyi, O., Mazar, A. P., Peter, M. E., Zheng, H., James, C. D., Burant, C. F., Chandel, N. S., Davuluri, R. V., Horbinski, C., Stegh, A. H. (May 2017) Cancer-Associated IDH1 Promotes Growth and Resistance to Targeted Therapies in the Absence of Mutation. Cell Rep, 19 (9). pp. 1858-1873.

Campagna, Leonardo, Mo, Ziyi, Siepel, Adam, Uy, J Albert C (November 2022) Selective sweeps on different pigmentation genes mediate convergent evolution of island melanism in two incipient bird species. Plos Genetics, 18 (11). e1010474. ISSN 1553-7390

Campbell, P. J., Getz, G., Korbel, J. O., Stuart, J. M., Jennings, J. L., Stein, L. D., Perry, M. D., Nahal-Bose, H. K., Ouellette, B. F. F., Li, C. H., Rheinbay, E., Nielsen, G. P., Sgroi, D. C., Wu, C. L., Faquin, W. C., Deshpande, V., Boutros, P. C., Lazar, A. J., Hoadley, K. A., Louis, D. N., Dursi, L. J., Yung, C. K., Bailey, M. H., Saksena, G., Raine, K. M., Buchhalter, I., Kleinheinz, K., Schlesner, M., Zhang, J., Wang, W., Wheeler, D. A., Ding, L., Simpson, J. T., O’Connor, B. D., Yakneen, S., Ellrott, K., Miyoshi, N., Butler, A. P., Royo, R., Shorser, S. I., Vazquez, M., Rausch, T., Tiao, G., Waszak, S. M., Rodriguez-Martin, B., Shringarpure, S., Wu, D. Y., Demidov, G. M., Delaneau, O., Hayashi, S., Imoto, S., Habermann, N., Segre, A. V., Garrison, E., Cafferkey, A., Alvarez, E. G., Heredia-Genestar, J. M., Muyas, F., Drechsel, O., Bruzos, A. L., Temes, J., Zamora, J., Baez-Ortega, A., Kim, H. L., Mashl, R. J., Ye, K., DiBiase, A., Huang, K. L., Letunic, I., McLellan, M. D., Newhouse, S. J., Shmaya, T., Kumar, S., Wedge, D. C., Wright, M. H., Yellapantula, V. D., Gerstein, M., Khurana, E., Marques-Bonet, T., Navarro, A., Bustamante, C. D., Siebert, R., Nakagawa, H., Easton, D. F., Ossowski, S., Tubio, J. M. C., De La Vega, F. M., Estivill, X., Yuen, D., Mihaiescu, G. L., Omberg, L., Ferretti, V., Sabarinathan, R., Pich, O., Gonzalez-Perez, A., Taylor-Weiner, A., Fittall, M. W., Demeulemeester, J., Tarabichi, M., Roberts, N. D., Van Loo, P., Cortés-Ciriano, I., Urban, L., Park, P., Zhu, B., Pitkänen, E., Li, Y., Saini, N., Klimczak, L. J., Weischenfeldt, J., Sidiropoulos, N., Alexandrov, L. B., Rabionet, R., Escaramis, G., Bosio, M., Holik, A. Z., Susak, H., Prasad, A., Erkek, S., Calabrese, C., Raeder, B., Harrington, E., Mayes, S., Turner, D., Juul, S., Roberts, S. A., Song, L., Koster, R., Mirabello, L., Hua, X., Tanskanen, T. J., Tojo, M., Chen, J., Aaltonen, L. A., Rätsch, G., Schwarz, R. F., Butte, A. J., Brazma, A., Chanock, S. J., Chatterjee, N., Stegle, O., Harismendy, O., Bova, G. S., Gordenin, D. A., Haan, D., Sieverling, L., Feuerbach, L., Chalmers, D., Joly, Y., Knoppers, B., Molnár-Gábor, F., Phillips, M., Thorogood, A., Townend, D., Goldman, M., Fonseca, N. A., Xiang, Q., Craft, B., Piñeiro-Yáñez, E., Muñoz, A., Petryszak, R., Füllgrabe, A., Al-Shahrour, F., Keays, M., Haussler, D., Weinstein, J., Huber, W., Valencia, A., Papatheodorou, I., Zhu, J., Fan, Y., Torrents, D., Bieg, M., Chen, K., Chong, Z., Cibulskis, K., Eils, R., Fulton, R. S., Gelpi, J. L., Gonzalez, S., Gut, I. G., Hach, F., Heinold, M., Hu, T., Huang, V., Hutter, B., Jäger, N., Jung, J., Kumar, Y., Lalansingh, C., Leshchiner, I., Livitz, D., Ma, E. Z., Maruvka, Y. E., Milovanovic, A., Nielsen, M. M., Paramasivam, N., Pedersen, J. S., Puiggròs, M., Sahinalp, S. C., Sarrafi, I., Stewart, C., Stobbe, M. D., Wala, J. A., Wang, J., Wendl, M., Werner, J., Wu, Z., Xue, H., Yamaguchi, T. N., Yellapantula, V., Davis-Dusenbery, B. N., Grossman, R. L., Kim, Y., Heinold, M. C., Hinton, J., Jones, D. R., Menzies, A., Stebbings, L., Hess, J. M., Rosenberg, M., Dunford, A. J., Gupta, M., Imielinski, M., Meyerson, M., Beroukhim, R., Reimand, J., Dhingra, P., Favero, F., Dentro, S., Wintersinger, J., Rudneva, V., Park, J. W., Hong, E. P., Heo, S. G., Kahles, A., Lehmann, K. V., Soulette, C. M., Shiraishi, Y., Liu, F., He, Y., Demircioğlu, D., Davidson, N. R., Greger, L., Li, S., Liu, D., Stark, S. G., Zhang, F., Amin, S. B., Bailey, P., Chateigner, A., Frenkel-Morgenstern, M., Hou, Y., Huska, M. R., Kilpinen, H., Lamaze, F. C., Li, C., Li, X., Li, X., Liu, X., Marin, M. G., Markowski, J., Nandi, T., Ojesina, A. I., Pan-Hammarström, Q., Park, P. J., Pedamallu, C. S., Su, H., Tan, P., Teh, B. T., Wang, J., Xiong, H., Ye, C., Yung, C., Zhang, X., Zheng, L., Zhu, S., Awadalla, P., Creighton, C. J., Wu, K., Yang, H., Göke, J., Zhang, Z., Brooks, A. N., Fittall, M. W., Martincorena, I., Rubio-Perez, C., Juul, M., Schumacher, S., Shapira, O., Tamborero, D., Mularoni, L., Hornshøj, H., Deu-Pons, J., Muiños, F., Bertl, J., Guo, Q., Gonzalez-Perez, A., Xiang, Q., Bazant, W., Barrera, E., Al-Sedairy, S. T., Aretz, A., Bell, C., Betancourt, M., Buchholz, C., Calvo, F., Chomienne, C., Dunn, M., Edmonds, S., Green, E., Gupta, S., Hutter, C. M., Jegalian, K., Jones, N., Lu, Y., Nakagama, H., Nettekoven, G., Planko, L., Scott, D., Shibata, T., Shimizu, K., Stratton, M. R., Yugawa, T., Tortora, G., VijayRaghavan, K., Zenklusen, J. C., Townend, D., Knoppers, B. M., Aminou, B., Bartolome, J., Boroevich, K. A., Boyce, R., Buchanan, A., Byrne, N. J., Chen, Z., Cho, S., Choi, W., Clapham, P., Dow, M. T., Dursi, L. J., Eils, J., Farcas, C., Fayzullaev, N., Flicek, P., Heath, A. P., Hofmann, O., Hong, J. H., Hudson, T. J., Hübschmann, D., Ivkovic, S., Jeon, S. H., Jiao, W., Kabbe, R., Kahles, A., Kerssemakers, J. N. A., Kim, H., Kim, J., Koscher, M., Koures, A., Kovacevic, M., Lawerenz, C., Liu, J., Mijalkovic, S., Mijalkovic-Lazic, A. M., Miyano, S., Nastic, M., Nicholson, J., Ocana, D., Ohi, K., Ohno-Machado, L., Pihl, T. D., Prinz, M., Radovic, P., Short, C., Sofia, H. J., Spring, J., Struck, A. J., Tijanic, N., Vicente, D., Wang, Z., Williams, A., Woo, Y., Wright, A. J., Yang, L., Hamilton, M. P., Johnson, T. A., Kahraman, A., Kellis, M., Polak, P., Sallari, R., Sinnott-Armstrong, N., von Mering, C., Beltran, S., Gerhard, D. S., Gut, M., Trotta, J. R., Whalley, J. P., Niu, B., Espiritu, S. M. G., Gao, S., Huang, Y., Lalansingh, C. M., Teague, J. W., Wendl, M. C., Abascal, F., Bader, G. D., Bandopadhayay, P., Barenboim, J., Brunak, S., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., Choi, J. K., Diamanti, K., Fink, J. L., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hobolth, A., Hodzic, E., Hong, C., Isaev, K., Izarzugaza, J. M. G., Johnson, R., Juul, R. I., Kim, J., Kim, J. K., Jan, Komorowski, Lanzós, A., Larsson, E., Lee, D., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Marchal, K., Martinez-Fundichely, A., McGillivray, P. D., Meyerson, W., Paczkowska, M., Park, K., Park, K., Pons, T., Pulido-Tamayo, S., Reyes-Salazar, I., Reyna, M. A., Rubin, M. A., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shen, C., Shrestha, R., Shuai, S., Tsunoda, T., Umer, H. M., Uusküla-Reimand, L., Verbeke, L. P. C., Wadelius, C., Wadi, L., Warrell, J., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., Lawrence, M. S., Raphael, B. J., Bailey, P. J., Craft, D., Goldman, M. J., Aburatani, H., Binder, H., Dinh, H. Q., Heath, S. C., Hoffmann, S., Imbusch, C. D., Kretzmer, H., Laird, P. W., Martin-Subero, J. I., Nagae, G., Shen, H., Wang, Q., Weichenhan, D., Zhou, W., Berman, B. 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