| StudyID |
Publication |
Pubmed |
| Awano2010 |
Awano, H., Malueka, R.G., Yagi, M., Okizuka, Y., Takeshima, Y. and Matsuo, M. (2010) Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA. J Hum Genet, 55, 785-790. |
PMID:20827276 |
| Baillie2011 |
Baillie, J.K., Barnett, M.W., Upton, K.R., Gerhardt, D.J., Richmond, T.A., De Sapio, F., Brennan, P.M., Rizzu, P., Smith, S., et al. (2011) Somatic retrotransposition alters the genetic landscape of the human brain. Nature, 479, 534-537. |
PMID:22037309 |
| Beck2010 |
Beck, C.R., Collier, P., Macfarlane, C., Malig, M., Kidd, J.M., Eichler, E.E., Badge, R.M. and Moran, J.V. (2010) LINE-1 Retrotransposition Activity in Human Genomes. Cell, 141, 1159-1170. |
PMID:20602998 |
| Bernard2009 |
Bernard, V., Minnerop, M., Bürk, K., Kreuz, F., Gillessen-Kaesbach, G. and Zuhlke, C. (2009) Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC Med Genet, 10, 87. |
PMID:19744353 |
| Brouha2002 |
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D. and Kazazian, H.H. (2002) Evidence consistent with human L1 retrotransposition in maternal meiosis I. Am J Hum Genet, 71, 327-336. |
PMID:12094329 |
| Evrony2012 |
Evrony, G.D., Cai, X., Lee, E., Hills, L.B., Elhosary, P.C., Lehmann, H.S., Parker, J.J., Atabay, K.D., Gilmore, E.C., et al. (2012) Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell, 151, 483-496. |
PMID:23101622 |
| Ewing2010 |
Ewing, A.D. and Kazazian, H.H. (2010) High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Res, 20, 1262-1270. |
PMID:20488934 |
| Ewing2011 |
Ewing, A.D. and Kazazian, H.H. (2011) Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans. Genome Res, 21, 985-990. |
PMID:20980553 |
| Helman2014 |
Helman, E., Lawrence, M.S., Stewart, C., Sougnez, C., Getz, G. and Meyerson, M. (2014) Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing. Genome Res, 24, 1053-1063. |
PMID:24823667 |
| Holmes1994 |
Holmes, S.E., Dombroski, B.A., Krebs, C.M., Boehm, C.D. and Kazazian, H.H. (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nat Genet, 7, 143-148. |
PMID:7920631 |
| Iskow2010 |
Iskow, R.C., McCabe, M.T., Mills, R.E., Torene, S., Pittard, W.S., Neuwald, A.F., Van Meir, E.G., Vertino, P.M. and Devine, S.E. (2010) Natural mutagenesis of human genomes by endogenous retrotransposons. Cell, 141, 1253-1261. |
PMID:20603005 |
| Kazazian1988 |
Kazazian, H.H., Wong, C., Youssoufian, H., Scott, A.F., Phillips, D.G. and Antonarakis, S.E. (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature, 332, 164-166. |
PMID:2831458 |
| Kondo-lida1999 |
Kondo-Iida, E., Kobayashi, K., Watanabe, M., Sasaki, J., Kumagai, T., Koide, H., Saito, K., Osawa, M., Nakamura, Y. and Toda, T. (1999) Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet, 8, 2303-2309. |
PMID:10545611 |
| Lanikova2013 |
Lanikova, L., Kucerova, J., Indrak, K., Divoka, M., Issa, J.P., Papayannopoulou, T., Prchal, J.T. and Divoky, V. (2013) β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the β-globin(L1) allele. Hum Mutat, 34, 1361-1365. |
PMID:23878091 |
| Lee2012 |
Lee, E., Iskow, R., Yang, L., Gokcumen, O., Haseley, P., Luquette, L.J., Lohr, J.G., Harris, C.C., Ding, L., et al. (2012) Landscape of somatic retrotransposition in human cancers. Science, 337, 967-971. |
PMID:22745252 |
| Li2001 |
Li, X., Scaringe, W.A., Hill, K.A., Roberts, S., Mengos, A., Careri, D., Pinto, M.T., Kasper, C.K. and Sommer, S.S. (2001) Frequency of recent retrotransposition events in the human factor IX gene. Hum Mutat, 17, 511-519. |
PMID:11385709 |
| Martinez-Garay2003 |
Martinez-Garay, I., Ballesta, M.J., Oltra, S., Orellana, C., Palomeque, A., Molto, M.D., Prieto, F. and Martinez, F. (2003) Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. Clin Genet, 64, 491-496. |
PMID:14986828 |
| Meischl2000 |
Meischl, C., Boer, M., Ahlin, A. and Roos, D. (2000) A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. Eur J Hum Genet, 8, 697-703. |
PMID:10980575 |
| Miki1992 |
Miki, Y., Nishisho, I., Horii, A., Miyoshi, Y., Utsunomiya, J., Kinzler, K.W., Vogelstein, B. and Nakamura, Y. (1992) Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res, 52, 643-645. |
PMID:1310068 |
| Mine2007 |
Mine, M., Chen, J.M., Brivet, M., Desguerre, I., Marchant, D., de Lonlay, P., Bernard, A., Ferec, C., Abitbol, M., et al. (2007) A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. Hum Mutat, 28, 137-142. |
PMID:17152059 |
| Morisada2010 |
Morisada, N., Rendtorff, N.D., Nozu, K., Morishita, T., Miyakawa, T., Matsumoto, T., Hisano, S., Iijima, K., Tranebjaerg, L., et al. (2010) Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol, 25, 1343-1348. |
PMID:20130917 |
| Mukherjee2004 |
Mukherjee, S., Mukhopadhyay, A., Banerjee, D., Chandak, G.R. and Ray, K. (2004) Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients. Haemophilia, 10, 259-263. |
PMID:15086324 |
| Musova2006 |
Musova, Z., Hedvicakova, P., Mohrmann, M., Tesarova, M., Krepelova, A., Zeman, J. and Sedlacek, Z. (2006) A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration. Biochem Biophys Res Commun, 347, 145-149. |
PMID:16808900 |
| Narita1993 |
Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H. and Matsuo, M. (1993) Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest, 91, 1862-1867. |
PMID:8387534 |
| Samuelov2011 |
Samuelov, L., Fuchs-Telem, D., Sarig, O. and Sprecher, E. (2011) An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. Br J Dermatol, 164, 1390-1392. |
PMID:21332462 |
| Schwahn1998 |
Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A.A., et al. (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet, 19, 327-332. |
PMID:9697692 |
| Shukla2013 |
Shukla, R., Upton, K.R., Munoz-Lopez, M., Gerhardt, D.J., Fisher, M.E., Nguyen, T., Brennan, P.M., Baillie, J.K., Collino, A., et al. (2013) Endogenous retrotransposition activates oncogenic pathways in hepatocellular carcinoma. Cell, 153, 101-111. |
PMID:23540693 |
| Solyom2012 |
Solyom, S., Ewing, A.D., Rahrmann, E.P., Doucet, T., Nelson, H.H., Burns, M.B., Harris, R.S., Sigmon, D.F., Casella, A., et al. (2012) Extensive somatic L1 retrotransposition in colorectal tumors. Genome Res, 22, 2328-2338. |
PMID:22968929 |
| Stewart2011 |
Stewart, C., Kural, D., Stromberg, M.P., Walker, J.A., Konkel, M.K., Stutz, A.M., Urban, A.E., Grubert, F., Lam, H.Y., et al. (2011) A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet, 7, e1002236. |
PMID:21876680 |
| Van_den_Hurk2003 |
van den Hurk, J.A., van de Pol, D.J., Wissinger, B., van Driel, M.A., Hoefsloot, L.H., de Wijs, I.J., van den Born, L.I., Heckenlively, J.R., Brunner, H.G., et al. (2003) Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet, 113, 268-275. |
PMID:12827496 |
| Wimmer2011 |
Wimmer, K., Callens, T., Wernstedt, A. and Messiaen, L. (2011) The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. PLoS Genet, 7, e1002371. |
PMID:22125493 |
| Yoshida1998 |
Yoshida, K., Nakamura, A., Yazaki, M., Ikeda, S. and Takeda, S. (1998) Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet, 7, 1129-1132. |
PMID:9618170 |