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Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma.
Wain LV, Odenthal-Hesse L, Abujaber R, Sayers I, Beardsmore C, Gaillard EA, Chappell S, Dogaru CM, McKeever T, Guetta-Baranes T, Kalsheker N, Kuehni CE, Hall IP, Tobin MD, Hollox EJ. Wain LV, et al. PLoS One. 2014 Jan 3;9(1):e84192. doi: 10.1371/journal.pone.0084192. eCollection 2014. PLoS One. 2014. PMID: 24404154 Free PMC article.
A well-characterised genomic region of complex copy number variation contains beta-defensin genes (DEFB103, DEFB104 and DEFB4), which have a role in the innate immune response. ...Our findings suggest that previous reports of association …
A well-characterised genomic region of complex copy number variation contains beta-defensin genes …
Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the beta-defensin-2 gene.
Ottolini B, Hornsby MJ, Abujaber R, MacArthur JA, Badge RM, Schwarzacher T, Albertson DG, Bevins CL, Solnick JV, Hollox EJ. Ottolini B, et al. Genome Biol Evol. 2014 Oct 27;6(11):3025-38. doi: 10.1093/gbe/evu236. Genome Biol Evol. 2014. PMID: 25349268 Free PMC article.
Genes encoding beta-defensins show evidence of birth-and-death evolution, adaptation by amino acid sequence changes, and extensive copy number variation (CNV) within humans and other species. ...Although the human beta-defensin …
Genes encoding beta-defensins show evidence of birth-and-death evolution, adaptation by amino acid sequence changes, an …
No Evidence for Association of beta-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.
Abujaber R, Shea PR, McLaren PJ, Lakhi S, Gilmour J, Allen S, Fellay J, Hollox EJ; IAVI Africa HIV Prevention Partnership, Swiss HIV Cohort Study. Abujaber R, et al. Ann Hum Genet. 2017 Jan;81(1):27-34. doi: 10.1111/ahg.12182. Ann Hum Genet. 2017. PMID: 28084001
We also compare distribution of beta-defensin copy number between European cases and controls and find no differences, arguing against a role of beta-defensin copy number in HIV acquisition. Taken together, our data a …
We also compare distribution of beta-defensin copy number between European cases and controls and find no …
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.
Aldhous MC, Abu Bakar S, Prescott NJ, Palla R, Soo K, Mansfield JC, Mathew CG, Satsangi J, Armour JA. Aldhous MC, et al. Hum Mol Genet. 2010 Dec 15;19(24):4930-8. doi: 10.1093/hmg/ddq411. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858604 Free PMC article.
The copy number variation in beta-defensin genes on human chromosome 8 has been proposed to underlie susceptibility to inflammatory disorders, but presents considerable challenges for accurate typing on the scale required for adequately p …
The copy number variation in beta-defensin genes on human chromosome 8 has been proposed to underl …