(Q37070555)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Edward J Hollox

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

John A.L. Armour

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Suhaili Abu Bakar

1

1 reference

18 August 2017

Edward J Hollox

2

1 reference

18 August 2017

John A L Armour

3

1 reference

18 August 2017

language of work or name

English

0 references

publication date

8 January 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

853-858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Mapping and sequencing of structural variation from eight human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Psoriasis is associated with increased beta-defensin genomic copy number

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

A -defensin mutation causes black coat color in domestic dogs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Diet and the evolution of human amylase gene copy number variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Processes of de novo duplication of human alpha-globin genes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Relative impact of nucleotide and copy number variation on gene expression phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Global variation in copy number in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Genome assembly comparison identifies structural variants in the human genome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Defensins: antimicrobial peptides of innate immunity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Construction of multilocus genetic linkage maps in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Extensive copy-number variation of the human olfactory receptor gene family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Allelic recombination and de novo deletions in sperm in the human beta-globin gene region

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Common deletion polymorphisms in the human genome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Human beta-defensin-2 functions as a chemotactic agent for tumour necrosis factor-alpha-treated human neutrophils

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630076

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0809073106

A radiation hybrid map of the human genome

21 January 2018

1 reference

12 December 2020

Copy-number analysis goes more than skin deep

1 reference

12 December 2020

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome

1 reference

12 December 2020

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0809073106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19131514%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference