Cargando…
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
Long interspersed (L1) and Alu elements are actively amplified in the human genome through retrotransposition of their RNA intermediates by the ∼100 still retrotranspositionally fully competent L1 elements. Retrotransposition can cause inherited disease if such an element is inserted near or within...
Autores principales: | Wimmer, Katharina, Callens, Tom, Wernstedt, Annekatrin, Messiaen, Ludwine |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219598/ https://www.ncbi.nlm.nih.gov/pubmed/22125493 http://dx.doi.org/10.1371/journal.pgen.1002371 |
Ejemplares similares
-
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides
por: Wimmer, Katharina, et al.
Publicado: (2020) -
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
por: Koczkowska, Magdalena, et al.
Publicado: (2023) -
Complex splicing pattern generates great diversity in human NF1 transcripts
por: Vandenbroucke, Ina, et al.
Publicado: (2002) -
Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL
por: Wernstedt, Annekatrin, et al.
Publicado: (2012) -
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
por: Perez-Valencia, Juan A., et al.
Publicado: (2020)