Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence
about
Dynamic instability of the major urinary protein gene family revealed by genomic and phenotypic comparisons between C57 and 129 strain miceReduced Paneth cell alpha-defensins in ileal Crohn's diseaseSingle-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colonThe Role of Cationic Polypeptides in Modulating HIV-1 Infection of the Cervicovaginal MucosaCross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tractDNA sequence and analysis of human chromosome 8Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing.Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing.Evidence for widespread reticulate evolution within human dupliconsMolecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficultiesDuplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association studyAccurate measurement of gene copy number for human alpha-defensin DEFA1A3.Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.Dramatic improvement in genome assembly achieved using doubled-haploid genomes.Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.Electropositive charge in alpha-defensin bactericidal activity: functional effects of Lys-for-Arg substitutions vary with the peptide primary structure.8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations.Both copy number and sequence variations affect expression of human DEFB4.Association of higher DEFB4 genomic copy number with Crohn's disease.
P2860
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P2860
Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence
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2004 nî lūn-bûn
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2004 թուականին հրատարակուած գիտական յօդուած
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2004 թվականին հրատարակված գիտական հոդված
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2004年の論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年论文
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name
Polymorphic segmental duplicat ...... guous human reference sequence
@ast
Polymorphic segmental duplicat ...... guous human reference sequence
@en
Polymorphic segmental duplicat ...... guous human reference sequence
@en-gb
Polymorphic segmental duplicat ...... guous human reference sequence
@nl
type
label
Polymorphic segmental duplicat ...... guous human reference sequence
@ast
Polymorphic segmental duplicat ...... guous human reference sequence
@en
Polymorphic segmental duplicat ...... guous human reference sequence
@en-gb
Polymorphic segmental duplicat ...... guous human reference sequence
@nl
prefLabel
Polymorphic segmental duplicat ...... guous human reference sequence
@ast
Polymorphic segmental duplicat ...... guous human reference sequence
@en
Polymorphic segmental duplicat ...... guous human reference sequence
@en-gb
Polymorphic segmental duplicat ...... guous human reference sequence
@nl
P2093
P2860
P50
P356
P1433
P1476
Polymorphic segmental duplicat ...... guous human reference sequence
@en
P2093
Atsushi Shimizu
Ivan F Loncarevic
Markus Schilhabel
Nobuyoshi Shimizu
Petra Galgoczy
Roman Siddiqui
Shuichi Asakawa
P2860
P2888
P356
10.1186/1471-2164-5-92
P407
P577
2004-01-01T00:00:00Z
P5875
P6179
1049621204