LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV (Q90798404)

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scientific article published on 22 August 2018

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English	LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV	scientific article published on 22 August 2018

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16 April 2020

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV (English)

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Justyna A Karolak

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Matthew T Harting

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Paweł Stankiewicz

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Jacques L. Michaud

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Jacques L Michaud

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Przemyslaw Szafranski

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Ewelina Kośmider

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Qian Liu

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Lauren Currie

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Sandhya Parkash

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Stephen G Kahler

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Elizabeth Roeder

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Rebecca O Littlejohn

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Thomas S DeNapoli

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Felix R Shardonofsky

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Cody Henderson

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George Powers

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Virginie Poisson

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Denis Bérubé

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Luc Oligny

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Sandra Janssens

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Jo Van Dorpe

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Annelies Dheedene

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Matthew D Weaver

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Amir M Khan

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Nina Tatevian

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Jennifer Wambach

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Kathleen A Gibbs

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Edwina Popek

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22 August 2018

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1916-1925

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16 April 2020

LINE-1 retrotransposition activity in human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

LINE-1 elements in structural variation and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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LINE dancing in the human genome: transposable elements and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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DNA binding specificities of the long zinc-finger recombination protein PRDM9.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Alveolar capillary dysplasia

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https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

1 reference

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7 January 2021

based on heuristic

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Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease

1 reference

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7 January 2021

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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Retrotransposable elements and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Mechanisms underlying structural variant formation in genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

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A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Repetitive elements may comprise over two-thirds of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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The biological properties and evolutionary dynamics of mammalian LINE-1 retrotransposons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

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Multiple fates of L1 retrotransposition intermediates in cultured human cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Retroelements and their impact on genome evolution and functioning

1 reference

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7 January 2021

based on heuristic

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Conserved 3' UTR stem-loop structure in L1 and Alu transposons in human genome: possible role in retrotransposition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Analyzing genomes with cumulative skew diagrams

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanisms for Complex Chromosomal Insertions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Roles for retrotransposon insertions in human disease

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanisms of change in gene copy number

1 reference

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7 January 2021

based on heuristic

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Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity.

1 reference

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7 January 2021

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A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

1 reference

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7 January 2021

based on heuristic

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Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Natural mutagenesis of human genomes by endogenous retrotransposons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

LINEs between Species: Evolutionary Dynamics of LINE-1 Retrotransposons across the Eukaryotic Tree of Life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

The majority of primate-specific regulatory sequences are derived from transposable elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Repbase update: a database and an electronic journal of repetitive elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Mobile DNA in Health and Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular evolution and tempo of amplification of human LINE-1 retrotransposons since the origin of primates.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Paired-end mapping reveals extensive structural variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Misalignment of pulmonary veins and alveolar capillary dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Landscape of somatic retrotransposition in human cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Retrotransposition and structural variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

A common sequence motif associated with recombination hot spots and genome instability in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

G-quadruplex structures within the 3' UTR of LINE-1 elements stimulate retrotransposition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Mobster: accurate detection of mobile element insertions in next generation sequencing data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Transposable elements are the primary source of novelty in primate gene regulation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23608

7 January 2021

based on heuristic

inferred from DOI database lookup

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.23608

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16 April 2020

PMC publication ID

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PubMed publication ID

1 reference

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16 April 2020

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