| 1. |
- Nonnecke, E. B., et al.
(författare)
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Human intelectin-1 (ITLN1) genetic variation and intestinal expression
- 2021
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Intelectins are ancient carbohydrate binding proteins, spanning chordate evolution and implicated in multiple human diseases. Previous GWAS have linked SNPs in ITLN1 (also known as omentin) with susceptibility to Crohn's disease (CD); however, analysis of possible functional significance of SNPs at this locus is lacking. Using the Ensembl database, pairwise linkage disequilibrium (LD) analyses indicated that several disease-associated SNPs at the ITLN1 locus, including SNPs in CD244 and Ly9, were in LD. The alleles comprising the risk haplotype are the major alleles in European (67%), but minor alleles in African superpopulations. Neither ITLN1 mRNA nor protein abundance in intestinal tissue, which we confirm as goblet-cell derived, was altered in the CD samples overall nor when samples were analyzed according to genotype. Moreover, the missense variant V109D does not influence ITLN1 glycan binding to the glycan beta -D-galactofuranose or protein-protein oligomerization. Taken together, our data are an important step in defining the role(s) of the CD-risk haplotype by determining that risk is unlikely to be due to changes in ITLN1 carbohydrate recognition, protein oligomerization, or expression levels in intestinal mucosa. Our findings suggest that the relationship between the genomic data and disease arises from changes in CD244 or Ly9 biology, differences in ITLN1 expression in other tissues, or an alteration in ITLN1 interaction with other proteins.
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| 3. |
- de la Motte, L, et al.
(författare)
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Effect of preoperative radiotherapy for rectal cancer on spermatogenesis
- 2021
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Ingår i: The British journal of surgery. - : Oxford University Press (OUP). - 1365-2168 .- 0007-1323. ; 108:7, s. 750-753
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Tidskriftsartikel (refereegranskat)abstract
- In this study, preoperative radiotherapy for rectal cancer was found to result in a dose-dependent impairment of spermatogenesis and Sertoli cell function, reflected both by decreased sperm count and characteristic changes in hormonal response, with signs of partial recovery between 12 and 24 months after surgery. Decreased semen volume was also observed, indicating ejaculatory tract dysfunction, that seemed to be longer-lasting and not related to testicular dose. This threatens fertility in men treated for rectal cancer, and suggests that pretreatment cryopreservation and anticonception after treatment should be discussed individually.
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