Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication (Q35154767)

6 August 2017

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication (English)

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6 August 2017

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6 August 2017

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James R Lupski

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6 August 2017

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Grace M Hobson

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6 August 2017

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Karen Sperle

1 reference

6 August 2017

Christine R Beck

1

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6 August 2017

Claudia M B Carvalho

2

1 reference

6 August 2017

Linda Banser

3

1 reference

6 August 2017

Danielle Stubbolo

5

1 reference

6 August 2017

Bo Yuan

6

1 reference

6 August 2017

Suzanne M McCahan

8

1 reference

6 August 2017

Marco Henneke

9

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6 August 2017

Pavel Seeman

10

1 reference

6 August 2017

James Y Garbern

11

1 reference

6 August 2017

6 March 2015

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6 August 2017

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6 August 2017

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3

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6 August 2017

e1005050

1 reference

Creative Commons Attribution 4.0 International

6 August 2017

start time

6 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

13 July 2018

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Large inverted duplications in the human genome form via a fold-back mechanism

13 July 2018

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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

13 July 2018

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Genome-wide screen reveals replication pathway for quasi-palindrome fragility dependent on homologous recombination.

13 July 2018

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Replicative mechanisms for CNV formation are error prone

13 July 2018

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Migrating bubble during break-induced replication drives conservative DNA synthesis

13 July 2018

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Pif1 helicase and Polδ promote recombination-coupled DNA synthesis via bubble migration.

13 July 2018

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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

13 July 2018

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Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

13 July 2018

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Recombination-restarted replication makes inverted chromosome fusions at inverted repeats.

13 July 2018

1 reference

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Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

13 July 2018

1 reference

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Inverted low-copy repeats and genome instability--a genome-wide analysis

13 July 2018

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Remarkably high rate of DNA amplification promoted by the mating-type switching mechanism in Schizosaccharomyces pombe

13 July 2018

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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

13 July 2018

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

13 July 2018

1 reference

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Gene amplification system based on double rolling-circle replication as a model for oncogene-type amplification

13 July 2018

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Break-induced replication is highly inaccurate

13 July 2018

1 reference

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

13 July 2018

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Diversity of human copy number variation and multicopy genes

13 July 2018

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A map of human genome variation from population-scale sequencing

13 July 2018

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Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes

13 July 2018

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13 July 2018

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

13 July 2018

1 reference

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Mapping and sequencing of structural variation from eight human genomes

13 July 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

13 July 2018

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Recurrent DNA inversion rearrangements in the human genome

13 July 2018

1 reference

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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

13 July 2018

1 reference

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Break-induced replication and recombinational telomere elongation in yeast

13 July 2018

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

13 July 2018

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A haplotype map of the human genome

13 July 2018

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Fine-scale structural variation of the human genome

13 July 2018

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Prenatal diagnosis of Pelizaeus-Merzbacher disease

13 July 2018

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

13 July 2018

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13 July 2018

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HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions

13 July 2018

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Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.

13 July 2018

1 reference

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

13 July 2018

1 reference

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The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants.

13 July 2018

1 reference

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Molecular dissection of mammalian gene amplification: new mechanistic insights revealed by analyses of very early events

13 July 2018

1 reference

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Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352052

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352052

Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352052

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352052

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352052

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352052

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005050

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25749076

12 December 2020

inferred from PubMed ID database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25749076

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1005050

1 reference

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30 July 2022

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Fatcat

https://api.fatcat.wiki/v0/release/jhhzrtmm3fdklbxyro3nmon4km

30 July 2022

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30 July 2022

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30 July 2022