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Ed, Weinberg

doi:10.1023/a:1020206316407

Cited by 6 publications

(2 citation statements)

References 17 publications

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“…Today, the basic elements of the 3D printing era are just starting to emerge: 3D scanners and accessible CAD files, computers that easily facilitate CAD file-sharing, and 3D printers that bring those designs to life. 34…”

Section: Idmentioning

confidence: 99%

Five Stages of Patent Grief to Achieve 3D Printing Acceptance

Syzdek

2014

SSRN Journal

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Section: Idmentioning

confidence: 99%

Five Stages of Patent Grief to Achieve 3D Printing Acceptance

Syzdek

2014

SSRN Journal

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“…In anuric renal failure, administration of theophylline can be dangerous because methylxanthine metabolism is blocked, causing accumulation of uric acid derivatives [13]. A patent from an individual US inventor claiming the use of the antioxidant N-acetylcysteine [142] also appears to be of limited novelty based on literature published before its May 2001 priority date [14,15].…”

Section: Adenosine Receptor Blockersmentioning

confidence: 99%

Patenting activity in drugs for renal disease, January 2002 - June 2004

Mucke¹

2004

Expert Opinion on Therapeutic Patents

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Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age

Shi

Johnstone

Talseth‐Palmer

et al. 2009

Intl Journal of Cancer

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Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by germline mutations in DNA mismatch repair genes; however, variation in disease expression suggests that there are potential modifying factors. Polymorphisms of the HFE gene, which cause the iron overload disorder hereditary haemochromatosis, have been proposed as potential risk factors for the development of colorectal cancer (CRC). To understand the relationship between HNPCC disease phenotype and polymorphisms of the HFE gene, a total of 362 individuals from Australia and Poland with confirmed causative MMR gene mutations were genotyped for the HFE C282Y and H63D polymorphisms. A significantly increased risk of developing CRC was observed for H63D homozygotes when compared with combined wild-type homozygotes and heterozygotes (hazard ratio 5 2.93, p 5 0.007). Evidence for earlier CRC onset was also observed in H63D homozygotes with a median age of onset 6 years earlier than wild type or heterozygous participants (44 vs. 50 years of age). This effect was significant by all tests used (log-rank test p 5 0.026, Wilcoxon p 5 0.044, Tarone-Ware p 5 0.035). No association was identified for heterozygosity of either polymorphism and limitations on power-prevented investigation of C282Y homozygosity or compound C282Y/ H63D heterozygosity. In the Australian sample only, women had a significantly reduced risk of developing CRC when compared with men (hazard ratio 5 0.58, p 5 0.012) independent of HFE genotype for either single nucleotide polymorphisms. In conclusion, homozygosity for the HFE H63D polymorphism seems to be a genetic modifier of disease expression in HNPCC. Understanding the mechanisms by which HFE interrelates with colorectal malignancies could lead to reduction of disease risk in HNPCC. ' UICCKey words: HFE; HNPCC; colorectal cancer; haemochromatosis; polymorphisms Hereditary nonpolyposis colorectal cancer (HNPCC) occurs as a result of germline mutations to DNA mismatch repair (MMR) genes, including hMSH2 and hMLH1.1-4 The disease is inherited in an autosomal dominant manner and predisposes individuals to the development of early-onset epithelial cancers, accounting for approximately 5% of colorectal cancer (CRC) cases.5 It has been demonstrated that the high level of variation in disease expression (age of onset and tumour site) cannot be solely attributed to differences in mutations of MMR genes. 6 There is now considerable evidence to suggest that disease expression is influenced by polymorphisms in other genes. 7-11The role of high body iron levels in modifying the risk of CRC has been investigated by several groups but is still unclear. 12-16The genetic iron overload disorder hereditary haemochromatosis is characterized by high iron indices and progressive parenchymal iron overload and occurs due to a problem in restricting iron uptake (reviewed in . Although clear associations have been established between haemochromatosis and liver disease, studies investigating the correlation between haemochromatosis and other pathologies ha...

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Untitled

Cited by 6 publications

References 17 publications

Five Stages of Patent Grief to Achieve 3D Printing Acceptance

Five Stages of Patent Grief to Achieve 3D Printing Acceptance

Patenting activity in drugs for renal disease, January 2002 - June 2004

Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age

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