405 related articles for article (PubMed ID: 22125493)
1. The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.
Wimmer K; Callens T; Wernstedt A; Messiaen L
PLoS Genet; 2011 Nov; 7(11):e1002371. PubMed ID: 22125493
[TBL] [Abstract][Full Text] [Related]
2. Rescuing Alu: recovery of new inserts shows LINE-1 preserves Alu activity through A-tail expansion.
Wagstaff BJ; Hedges DJ; Derbes RS; Campos Sanchez R; Chiaromonte F; Makova KD; Roy-Engel AM
PLoS Genet; 2012; 8(8):e1002842. PubMed ID: 22912586
[TBL] [Abstract][Full Text] [Related]
3. Characterization of pre-insertion loci of de novo L1 insertions.
Gasior SL; Preston G; Hedges DJ; Gilbert N; Moran JV; Deininger PL
Gene; 2007 Apr; 390(1-2):190-8. PubMed ID: 17067767
[TBL] [Abstract][Full Text] [Related]
4. Genome-wide de novo L1 Retrotransposition Connects Endonuclease Activity with Replication.
Flasch DA; Macia Á; Sánchez L; Ljungman M; Heras SR; García-Pérez JL; Wilson TE; Moran JV
Cell; 2019 May; 177(4):837-851.e28. PubMed ID: 30955886
[TBL] [Abstract][Full Text] [Related]
5. Analysis of 5' junctions of human LINE-1 and Alu retrotransposons suggests an alternative model for 5'-end attachment requiring microhomology-mediated end-joining.
Zingler N; Willhoeft U; Brose HP; Schoder V; Jahns T; Hanschmann KM; Morrish TA; Löwer J; Schumann GG
Genome Res; 2005 Jun; 15(6):780-9. PubMed ID: 15930490
[TBL] [Abstract][Full Text] [Related]
6. Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres.
Morrish TA; Garcia-Perez JL; Stamato TD; Taccioli GE; Sekiguchi J; Moran JV
Nature; 2007 Mar; 446(7132):208-12. PubMed ID: 17344853
[TBL] [Abstract][Full Text] [Related]
7. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.
Vogt J; Bengesser K; Claes KB; Wimmer K; Mautner VF; van Minkelen R; Legius E; Brems H; Upadhyaya M; Högel J; Lazaro C; Rosenbaum T; Bammert S; Messiaen L; Cooper DN; Kehrer-Sawatzki H
Genome Biol; 2014 Jun; 15(6):R80. PubMed ID: 24958239
[TBL] [Abstract][Full Text] [Related]
8. A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.
Chen JM; Stenson PD; Cooper DN; Férec C
Hum Genet; 2005 Sep; 117(5):411-27. PubMed ID: 15983781
[TBL] [Abstract][Full Text] [Related]
9. A de novo Alu insertion results in neurofibromatosis type 1.
Wallace MR; Andersen LB; Saulino AM; Gregory PE; Glover TW; Collins FS
Nature; 1991 Oct; 353(6347):864-6. PubMed ID: 1719426
[TBL] [Abstract][Full Text] [Related]
10. L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.
Freeman P; Macfarlane C; Collier P; Jeffreys AJ; Badge RM
Hum Mutat; 2011 Aug; 32(8):978-88. PubMed ID: 21560187
[TBL] [Abstract][Full Text] [Related]
11. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA; Kim YE; Kim SK; Lee MK; Kim JW; Ki CS
J Hum Genet; 2016 Aug; 61(8):705-9. PubMed ID: 27074763
[TBL] [Abstract][Full Text] [Related]
12. Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements.
Chen J; Rattner A; Nathans J
Hum Mol Genet; 2006 Jul; 15(13):2146-56. PubMed ID: 16723373
[TBL] [Abstract][Full Text] [Related]
13. Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W; Yang X; Hu X; Li S
Int J Mol Med; 2014 Jul; 34(1):53-60. PubMed ID: 24789688
[TBL] [Abstract][Full Text] [Related]
14. Deep Intronic LINE-1 Insertions in
Alesi V; Genovese S; Lepri FR; Catino G; Loddo S; Orlando V; Di Tommaso S; Morgia A; Martucci L; Di Donato M; Digilio MC; Dallapiccola B; Novelli A; Capolino R
Biomolecules; 2023 Apr; 13(5):. PubMed ID: 37238595
[TBL] [Abstract][Full Text] [Related]
15. Potential for genomic instability associated with retrotranspositionally-incompetent L1 loci.
Kines KJ; Sokolowski M; deHaro DL; Christian CM; Belancio VP
Nucleic Acids Res; 2014; 42(16):10488-502. PubMed ID: 25143528
[TBL] [Abstract][Full Text] [Related]
16. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
[TBL] [Abstract][Full Text] [Related]
17. Transposable elements in disease-associated cryptic exons.
Vorechovsky I
Hum Genet; 2010 Feb; 127(2):135-54. PubMed ID: 19823873
[TBL] [Abstract][Full Text] [Related]
18. The Nucleotide Excision Repair Pathway Limits L1 Retrotransposition.
Servant G; Streva VA; Derbes RS; Wijetunge MI; Neeland M; White TB; Belancio VP; Roy-Engel AM; Deininger PL
Genetics; 2017 Jan; 205(1):139-153. PubMed ID: 28049704
[TBL] [Abstract][Full Text] [Related]
19. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.
Nakama M; Otsuka H; Ago Y; Sasai H; Abdelkreem E; Aoyama Y; Fukao T
Gene; 2018 Jul; 664():84-89. PubMed ID: 29698748
[TBL] [Abstract][Full Text] [Related]
20. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
Fang LJ; Simard MJ; Vidaud D; Assouline B; Lemieux B; Vidaud M; Chabot B; Thirion JP
J Mol Biol; 2001 Apr; 307(5):1261-70. PubMed ID: 11292340
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]