Accurate measurement of gene copy number for human alpha-defensin DEFA1A3. (Q35020478)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

John A.L. Armour

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Danielle Carpenter

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Laura Mitchell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Omniah Mansouri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Holly A Black

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jess Tyson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

20 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

719

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

A mechanistic basis for amplification differences between samples and between genome regions

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Correlating multiallelic copy number polymorphisms with disease susceptibility

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Copy number variation detection and genotyping from exome sequence data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Functional effects of CCL3L1 copy number.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Population-genetic properties of differentiated human copy-number polymorphisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Determination of beta-defensin genomic copy number in different populations: A comparison of three methods

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Mapping copy number variation by population-scale genome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Diversity of human copy number variation and multicopy genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Increased alpha-defensins 1-3 production by dendritic cells in HIV-infected individuals is associated with slower disease progression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Multiple common variants for celiac disease influencing immune gene expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Common genetic variation and the control of HIV-1 in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Reply to: "Experimental aspects of copy number variant assays at CCL3L1".

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Experimental aspects of copy number variant assays at CCL3L1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Origins and functional impact of copy number variation in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Role of CCL3L1-CCR5 genotypes in the epidemic spread of HIV-1 and evaluation of vaccine efficacy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Psoriasis is associated with increased beta-defensin genomic copy number

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Risk alleles for multiple sclerosis identified by a genomewide study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Gene copy number regulates the production of the human chemokine CCL3-L1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Extracellular release of antimicrobial defensins by human polymorphonuclear leukocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Characterization of defensin precursors in mature human neutrophils

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4046698

Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

Association of higher DEFB4 genomic copy number with Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

CCL3L1 and HIV/AIDS susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

CCL3L1 and HIV/AIDS susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

Gene copy number: learning to count past two.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

A common variant on chromosome 11q13 is associated with atopic dermatitis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-719

Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24138543

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24138543

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2164-14-719

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

24138543

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24138543%20AND%20SRC:MED&resulttype=core&format=json