LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis
about
Roles for retrotransposon insertions in human diseaseLINE-1 elements in structural variation and diseaseL1 recombination-associated deletions generate human genomic variationEvolution of serum albumin intron-1 is shaped by a 5' truncated non-long terminal repeat retrotransposon in western Palearctic water frogs (Neobatrachia).Frequent gene conversion events between the X and Y homologous chromosomal regions in primates.Large differences between LINE-1 amplification rates in the human and chimpanzee lineages.Multiple fates of L1 retrotransposition intermediates in cultured human cells.Impact of transposable elements on the human genome.A double-strand break in a chromosomal LINE element can be repaired by gene conversion with various endogenous LINE elements in mouse cellsPerspective: transposable elements, parasitic DNA, and genome evolution.Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.Efficient repair of DNA breaks in Drosophila: evidence for single-strand annealing and competition with other repair pathways.LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruptionThe genomic distribution of L1 elements: the role of insertion bias and natural selection.Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicismRepetitive sequence environment distinguishes housekeeping genes.The recent evolution of human L1 retrotransposons.Cancer-specific chromosome alterations in the constitutive fragile region FRA3B.The human genome in the LINE of fire.Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.Determination of L1 retrotransposition kinetics in cultured cells.Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.Regulation of the paired type IV collagen genes COL4A5 and COL4A6. Role of the proximal promoter region.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Retrotransposable L1 elements expressed in rheumatoid arthritis synovial tissue: association with genomic DNA hypomethylation and influence on gene expression.Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome
P2860
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P2860
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@ast
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@en
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@nl
type
label
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@ast
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@en
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@nl
prefLabel
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@ast
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@en
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@nl
P2093
P2860
P50
P356
P1476
LINE-1 elements at the sites o ...... yndrome-diffuse leiomyomatosis
@en
P2093
P2860
P356
10.1086/302213
P407
P577
1999-01-01T00:00:00Z