A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 (Q33638175)

https://api.crossref.org/works/10.1093/HMG/DDH004

28 July 2017

title

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 (English)

1 reference

1 April 2024

1 reference

https://api.crossref.org/works/10.1093/HMG/DDH004

1 April 2024

Anthony L. Gotter

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14613967

1 April 2024

Tamim H. Shaikh

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1 April 2024

Marcia L. Budarf

1 reference

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1 April 2024

C. Harker Rhodes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14613967

1 April 2024

Beverly S. Emanuel

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1 April 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14613967

1 April 2024

publication date

12 November 2003

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full work available at URL

28 July 2017

https://academic.oup.com/hmg/article-pdf/13/1/103/17240617/ddh004.pdf

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Portable Document Format

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14613967

https://europepmc.org/articles/PMC2818528

1 April 2024

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https://europepmc.org/articles/PMC2818528?pdf=render

1 April 2024

file format

Portable Document Format

online access status

open access

content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14613967

https://doi.org/10.1093/hmg/ddh004

1 April 2024

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14613967

http://academic.oup.com/hmg/article-pdf/13/1/103/17240617/ddh004.pdf

1 April 2024

file format

Portable Document Format

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https://api.crossref.org/works/10.1093/HMG/DDH004

1 April 2024

published in

Human Molecular Genetics

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

103-115

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The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Optimedin: a novel olfactomedin-related protein that interacts with myocilin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Segmental duplications: an 'expanding' role in genomic instability and disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

AT-rich palindromes mediate the constitutional t(11;22) translocation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Palindrome Resolution and Recombination in the Mammalian Germ Line

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Instability of long inverted repeats within mouse transgenes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Inverted DNA repeats: a source of eukaryotic genomic instability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Constitutive fragile sites and cancer.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Chromosomal fragile sites and cancer-specific rearrangements

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

28 July 2018

1 reference

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An abundant transcript induced in differentiating human endothelial cells encodes a polypeptide with structural similarities to G-protein-coupled receptors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Repeat expansion by homologous recombination in the mouse germ line at palindromic sequences

30 October 2018

1 reference

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Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2)

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818528

Constitutional de novo t(1;22)(p22;q11.2) and ependymoma

30 October 2018

1 reference

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Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

30 October 2018

1 reference

12 December 2020

Spatial proximity of translocation-prone gene loci in human lymphomas

1 reference

12 December 2020

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)

1 reference

12 December 2020

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

1 reference

12 December 2020

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

1 reference

12 December 2020

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11)

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDH004

1 reference

28 July 2017

1 reference

28 July 2017

1 reference