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- Cosyn, Jan, et al.
(författare)
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An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure
- 2016
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Ingår i: Clinical Implant Dentistry and Related Research. - : John Wiley & Sons. - 1523-0899 .- 1708-8208. ; 18:2, s. 234-240
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Tidskriftsartikel (refereegranskat)abstract
- Background The association between IL-1 gene polymorphisms and peri-implantitis has been well documented. However, data on the association with early implant failure are scarce. Purpose The objective of this case-control study was to explore the impact of IL-1A (-889), IL-1B (-511), and IL-1B (+3,954) gene polymorphisms on early implant failure in Caucasians Materials and Methods Between September 2004 and August 2007, 461 patients were treated with dental implants at the University Hospital in Ghent, Belgium. Fourteen subjects of this patient group who had experienced one or more early implant failures (within 6 months from implant installation) were recruited as cases. Fourteen controls, matched in terms of age, gender, and smoking habits, with only surviving implants, were selected from the same patient group. Allele and genotype analysis was performed on the basis of a blood sample by Sanger sequencing of polymerase chain reaction products containing the IL-1A (-889), IL-1B (-511), and IL-1B (+3,954) gene polymorphisms Results A significant impact of the IL-1A (-889) T allele (p=.039) and the IL-1B (+3,954) T allele (p=.003) on early implant failure was demonstrated (odds ratios=3.9 and 15.0, respectively). In addition, the genotypic distribution differed significantly between cases and controls for IL-1B (+3,954) (p=.015 ConclusionsThe IL-1B (+3,954) gene polymorphism seems to affect osseointegration. Additional case-control studies in larger patient groups are needed to confirm this observation.
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| 3. |
- De Brouwer, Sara, et al.
(författare)
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Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification.
- 2010
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Ingår i: Clinical cancer research : an official journal of the American Association for Cancer Research. - 1078-0432 .- 1557-3265. ; 16:17, s. 4353-62
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Tidskriftsartikel (refereegranskat)abstract
- Activating mutations of the anaplastic lymphoma kinase (ALK) were recently described in neuroblastoma. We carried out a meta-analysis of 709 neuroblastoma tumors to determine their frequency and mutation spectrum in relation to genomic and clinical parameters, and studied the prognostic significance of ALK copy number and expression.
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- De Preter, Katleen, et al.
(författare)
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Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes
- 2006
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1474-7596 .- 1465-6906. ; 7:9
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Tidskriftsartikel (refereegranskat)abstract
- Background: Neuroblastoma tumor cells are assumed to originate from primitive neuroblasts giving rise to the sympathetic nervous system. Because these precursor cells are not detectable in postnatal life, their transcription profile has remained inaccessible for comparative data mining strategies in neuroblastoma. This study provides the first genome-wide mRNA expression profile of these human fetal sympathetic neuroblasts. To this purpose, small islets of normal neuroblasts were isolated by laser microdissection from human fetal adrenal glands. Results: Expression of catecholamine metabolism genes, and neuronal and neuroendocrine markers in the neuroblasts indicated that the proper cells were microdissected. The similarities in expression profile between normal neuroblasts and malignant neuroblastomas provided strong evidence for the neuroblast origin hypothesis of neuroblastoma. Next, supervised feature selection was used to identify the genes that are differentially expressed in normal neuroblasts versus neuroblastoma tumors. This approach efficiently sifted out genes previously reported in neuroblastoma expression profiling studies; most importantly, it also highlighted a series of genes and pathways previously not mentioned in neuroblastoma biology but that were assumed to be involved in neuroblastoma pathogenesis. Conclusion: This unique dataset adds power to ongoing and future gene expression studies in neuroblastoma and will facilitate the identification of molecular targets for novel therapies. In addition, this neuroblast transcriptome resource could prove useful for the further study of human sympathoadrenal biogenesis.
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- Renard, Marjolijn, et al.
(författare)
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Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGF beta signaling in FTAAD
- 2013
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Ingår i: International Journal of Cardiology. - : Elsevier BV. - 0167-5273 .- 1874-1754. ; 165:2, s. 314-321
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Tidskriftsartikel (refereegranskat)abstract
- Background: Thoracic aortic aneurysm/dissection (TAAD) is a common phenotype that may occur as an isolated manifestation or within the constellation of a defined syndrome. In contrast to syndromic TAAD, the elucidation of the genetic basis of isolated TAAD has only recently started. To date, defects have been found in genes encoding extracellular matrix proteins (fibrillin-1, FBN1; collagen type III alpha 1, COL3A1), proteins involved in transforming growth factor beta (TGF beta) signaling (TGF beta receptor 1 and 2, TGFBR1/2; and SMAD3) or proteins that build up the contractile apparatus of aortic smooth muscle cells (myosin heavy chain 11, MYH11; smooth muscle actin alpha 2, ACTA2; and MYLK).Methods and result: In 110 non-syndromic TAAD patients that previously tested negative for FBN1 or TGFBR1/2 mutations, we identified 7 ACTA2 mutations in a cohort of 43 familial TAAD patients, including 2 premature truncating mutations. Sequencing of MYH11 revealed an in frame splice-site alteration in one out of two probands with TAA(D) associated with PDA but none in the series of 22 probands from the cohort of 110 patients with non-syndromic TAAD. Interestingly, immunohistochemical staining of aortic biopsies of a patient and a family member with MYH11 and patients with ACTA2 missense mutations showed upregulation of the TGF beta signaling pathway.Conclusions: MYH11 mutations are rare and typically identified in patients with TAAD associated with PDA. ACTA2 mutations were identified in 16% of a cohort presenting familial TAAD. Different molecular defects in TAAD may account for a different pathogenic mechanism of enhanced TGF beta signaling.(C) 2011 Elsevier Ireland Ltd. All rights reserved.
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