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  • 1
    Abstract: The presence of multiple (5-100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this phenotype is undetermined if patients test negative for Mendelian polyposis syndromes such as familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorphisms (SNPs) could help to explain some cases with multiple adenomas who phenocopied FAP or MAP, but had no pathogenic APC or MUTYH variant. No multiple adenoma case had an outlying number of CRC SNP risk alleles, but multiple adenoma patients did have a significantly higher number of risk alleles than population controls (P=5.7 x 10-7). The association was stronger in those with 〉/=10 adenomas. The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation. In FAP patients, the CRC risk score did not differ significantly from the controls, as we expected given the overwhelming effect of pathogenic germline APC variants on the phenotype of these cases. More unexpectedly, we found no evidence that the CRC SNPs act as modifier genes for the number of colorectal adenomas in FAP patients. In conclusion, common colorectal tumour risk alleles contribute to the development of multiple adenomas in patients without pathogenic germline APC or MUTYH variants. This phenotype may have 'polygenic' or monogenic origins. The risk of CRC in relatives of multiple adenoma cases is probably much lower for cases with polygenic disease, and this should be taken into account when counselling such patients.European Journal of Human Genetics advance online publication, 7 May 2014; doi:10.1038/ejhg.2014.74.
    Type of Publication: Journal article published
    PubMed ID: 24801760
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  • 2
    ISSN: 0168-9002
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 0303-7207
    Keywords: membrane fluidity ; negative cooperativity ; receptor affinity ; receptor aggregation
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Schizophrenia Research 9 (1993), S. 190 
    ISSN: 0920-9964
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Virchows Archiv 422 (1993), S. 93-95 
    ISSN: 1432-2307
    Keywords: Carcinoid ; Uterus ; Endocrine cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A carcinoid tumour occurred in the uterine fundus causing an enlargement (12–14 weeks size). The patient did not have the carcinoid syndrome, despite elevated urinary 5-hydroxyindole acetic acid levels. The tumour had a typical organoid pattern with argentaffin-positive cells. Whilst a metastasis from an occult primary lesion cannot be entirely excluded, it is felt that this is a primary tumour most likely arising from resident endocrine cells in the endometrium.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-041X
    Keywords: Cell division ; Development ; Cryptobiosis ; Nauplius larva
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Cell division during embryonic development of the brine shrimp,Artemia salina has been studied by counting nuclei and mitotic figures. No cell division was observed during development of the encysted gastrula until about an hour before emergence of the embryo (a pre-nauplius) from the cyst, and even then only a few mitotic figures were observed. Following emergence, and during further development up to the stage II nauplius larva an increase of about 25% in the number of cells occurs. However, when the newly hatched larva is exposed to FUdR (10 μg/ml) cell division is largely inhibited, but observable development nevertheless proceeds normally. Evidently all processes involved with the development of the gastrula into a stage II nauplius larva can occur with far fewer cells than normally are present.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-0428
    Keywords: Diabetes mellitus ; focal adhesion kinase ; glomeruli ; prostaglandins ; fibronectin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Altered extracellular matrix production by the glomerular mesangium is a feature of diabetes mellitus. Matrix proteins, including fibronectin, via interaction with cell-surface receptors (the integrins) may activate intracellular pathways such as prostaglandin production, shown previously to be stimulated by addition of fibronectin to glomerular cores. However, the signalling pathways involved are unclear. An intracellular tyrosine kinase (focal adhesion kinase), associated with focal adhesions, is known to be phosphorylated after interaction with matrix proteins. We now show for the first time, in glomeruli from diabetic rats, that focal adhesion kinase has increased phosphorylation on tyrosine, when compared with non-diabetic control rats. This phosphorylation was labile and disappeared with extended time of sample preparation or digestion of glomeruli to glomerular cores. Cultured mesangial cells, from non-diabetic rats, plated onto fibronectin also showed increased tyrosine phosphorylation of focal adhesion kinase accompanied by a twofold increase in prostaglandin production. However, it may not be possible to replicate fully the diabetic “state” in vitro merely by use of raised glucose concentrations, as these conditions (for 3 weeks) resulted in decreased focal adhesion kinase phosphorylation, despite increased fibronectin and prostaglandin levels. A role for increased focal adhesion kinase phosphorylation in kidney glomeruli isolated from diabetic rats, and any linkage to intracellular signalling pathways remains to be determined.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0428
    Keywords: Keywords Insulin ; genetic engineering ; cell lines ; transplantation ; molecular biology.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The recently completed diabetes complications and control trial has highlighted the need for improvement of insulin delivery systems for treatment of insulin-dependent diabetes mellitus. Despite steady improvement in methods for islet and whole pancreas transplantation over the past three decades, the broad-scale applicability of these approaches remains uncertain due in part to the difficulty and expense associated with procurement of functional tissue. To address this concern, we and others have been using the tools of molecular biology to develop cell lines with regulated insulin secretion that might serve as a surrogate for primary islets or pancreas tissue in transplantation therapy. This article seeks to provide a brief summary of the current status of this growing field, with a particular emphasis on progress in producing cell lines with appropriate glucose-stimulated insulin secretion. [Diabetologia (1997) 40: S 42–S 47]
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-0975
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Geosciences
    Notes: Abstract As part of a study of reef rehabilitation, whole coral colonies (primarily Acropora, Pocillopora, Porites, Eavia and Favites) were transplanted and cemented in place onto three approximately 20 m2 areas of Armorflex concrete mats on a 0.8–1.5 m deep reef-flat in the Maldives which had been severely degraded by coral mining. Growth, in situ mortality, and losses from mats due to wave action of a total of 530 transplants were monitored over 28 months. Natural recruitment of corals to both the transplanted Armorflex areas and concrete mats without transplants was also studied. Overall survivorship of corals 28 moths after transplantation was 51%. Most losses of transplants due to wave action occurred during the first 7 months when 25% were lost, with only a further 5% of colonies being lost subsequently. Within 16 months most colonies had accreted naturally to the concretemats. Thirty-two percent of transplants which remained attached died with Acropora hyacinthus and Pocillopora perrucosa having the highest mortality rates (approx. 50% nortality over two years) and Porites lobata and P. lutea the lowest (2.8 and 8.1% mortality respectively over two years). Growth rates were very variable with a quarter to a third of transplants showing negative growth during each inter-survey period. Acropora hyacinthus, A. cytherea and A. divaricata transplants had the highest growth rates (colony mean linear radial extension 4.15–5.81 cm y-1), followed by Pocillopora verrucosa (mean 2.51 cm y-1). Faviids and poritids had lowest growth rates. Favia and Favites showed the poorest response to transplantation whilst Acropora divaricata, which combined a high growth rate with relatively low mortality, appeared particularly amenable to transplantation. Natural recruitment did not differ significantly between concrete mats with and without transplanted corals. ‘Visible’ recruits wer first recorded 10 months after emplacement of the mats and were predominantly Acropora and Pocillopora. On near vertical surfaces their density was almost 18 m-2. Recruits grew fast producing many 20–30 cm diameter colonies on the mats within 3.5 years. Growth and survival of transplants are compared with results of transplantation studies in other locations. We conclude: (1) species transplanted should be selected with care as certain species are significantly more amenable than others to transplantation, (2) the choice of whether fragments or whole colonies are transplanted may profoundly influence survival, (3) considerable loss of transplants is likely from higher energy sites whatever method of attachment, (4) transplantation should, in general, be undertaken only if recovery following natural recruitment is unlikely.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-0975
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Geosciences
    Notes: Abstract.  As part of a study of reef rehabilitation, whole coral colonies (primarily Acropora, Pocillopora, Porites, Favia and Favites) were transplanted and cemented in place onto three approximately 20 m2 areas of Armorflex concrete mats on a 0.8-1.5 m deep reef-flat in the Maldives which had been severely degraded by coral mining. Growth, in situ mortality, and losses from mats due to wave action of a total of 530 transplants were monitored over 28 months. Natural recruitment of corals to both the transplanted Armorflex areas and concrete mats without transplants was also studied. Overall survivorship of corals 28 months after transplantation was 51%. Most losses of transplants due to wave action occurred during the first 7 months when 25% were lost, with only a further 5% of colonies being lost subsequently. Within 16 months most colonies had accreted naturally to the concrete mats. Thirty-two percent of transplants which remained attached died with Acropora hyacinthus and Pocillopora verrucosa having the highest mortality rates (approx. 50% mortality over two years) and Porites lobata and P. lutea the lowest (2.8 and 8.1% mortality respectively over two years). Growth rates were very variable with a quarter to a third of transplants showing negative growth during each inter-survey period. Acropora hyacinthus, A. cytherea and A. divaricata transplants had the highest growth rates (colony mean linear radial extension 4.15-5.81 cm y−1), followed by Pocillopora verrucosa (mean 2.51 cm y−1). Faviids and poritids had lowest growth rates. Favia and Favites showed the poorest response to transplantation whilst Acropora divaricata, which combined a high growth rate with relatively low mortality, appeared particularly amenable to transplantation. Natural recruitment did not differ significantly between concrete mats with and without transplanted corals. ‘Visible’ recruits were first recorded 10 months after emplacement of the mats and were predominantly Acropora and Pocillopora. On near vertical surfaces their density was almost 18 m−2. Recruits grew fast producing many 20-30 cm diameter colonies on the mats within 3.5 years. Growth and survival of transplants are compared with results of transplantation studies in other locations. We conclude: (1) species transplanted should be selected with care as certain species are significantly more amenable than others to transplantation, (2) the choice of whether fragments or whole colonies are transplanted may profoundly influence survival, (3) considerable loss of transplants is likely from higher energy sites whatever method of attachment, (4) transplantation should, in general, be undertaken only if recovery following natural recruitment is unlikely.
    Type of Medium: Electronic Resource
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