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Träfflista för sökning "WFRF:(van Doorn Remco) ;pers:(Jönsson Göran B)"

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1.	Aoude, Lauren G, et al. (author) Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma. 2015 In: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 107:2, s. 408-408 Journal article (peer-reviewed)abstract The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivating germline mutations in POT1, encoding a member of the shelterin complex, we searched for mutations in the other five components of the shelterin complex in melanoma families.
2.	Davies, John R., et al. (author) An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study 2014 In: Pigment Cell & Melanoma Research. - : Wiley. - 1755-148X .- 1755-1471. ; 27:2, s. 234-243 Journal article (peer-reviewed)abstract An association between low serum vitamin D levels and poorer melanoma survival has been reported. We have studied inheritance of a polymorphism of the GC gene, rs2282679, coding for the vitamin D-binding protein, which is associated with lower serum levels of vitamin D, in a meta-analysis of 3137 melanoma patients. The aim was to investigate evidence for a causal relationship between vitamin D and outcome (Mendelian randomization). The variant was not associated with reduced overall survival (OS) in the UK cohort, per-allele hazard ratio (HR) for death 1.23 (95% confidence interval (CI) 0.93, 1.64). In the smaller cohorts, HR in OS analysis was 1.07 (95% CI 0.88, 1.3) and for all cohorts combined, HR for OS was 1.09 (95% CI 0.93, 1.29). There was evidence of increased melanoma-specific deaths in the seven cohorts for which these data were available. The lack of unequivocal findings despite the large sample size illustrates the difficulties of implementing Mendelian randomization.
3.	Zebary, Abdlsattar, et al. (author) Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study 2014 In: Journal of Investigative Dermatology. - : Elsevier BV. - 1523-1747 .- 0022-202X. ; 134:1, s. 287-290 Journal article (other academic/artistic)

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Type of publication: journal article (3)

Type of content: peer-reviewed (2); other academic/artistic (1)

Author/Editor: Jönsson, Göran B (3)Undo refine; Harland, Mark (3); van Doorn, Remco (3); Gruis, Nelleke A (3); Olsson, Håkan (2); Bishop, D Timothy (2); show more...; Hansson, Johan (2); Hayward, Nicholas K (2); Puig, Susana (2); Johansson, Peter (1); Park, Jong Y (1); Vassilaki, Ismini (1); Borg, Åke (1); Martin, Nicholas G. (1); Lopez-Otin, Carlos (1); Barrett, Jennifer H (1); Mann, Graham J (1); Brown, Kevin M (1); Harbst, Katja (1); Gerdes, Anne-Marie (1); Montgomery, Grant W. (1); Aoude, Lauren G. (1); Wadt, Karin (1); Trent, Jeffrey M. (1); Pritchard, Antonia L (1); Robles-Espinoza, Car ... (1); Choi, Jiyeon (1); Gartside, Michael (1); Quesada, Víctor (1); Palmer, Jane M (1); Ramsay, Andrew J (1); Zhang, Xijun (1); Jones, Kristine (1); Symmons, Judith (1); Holland, Elizabeth A (1); Schmid, Helen (1); Bonazzi, Vanessa (1); Woods, Susan (1); Dutton-Regester, Ken (1); Stark, Mitchell S (1); Snowden, Helen (1); Keane, Thomas M (1); Ingvar, Christian (1); Newton-Bishop, Julia ... (1); Adams, David J (1); Stratigos, Alexander ... (1); Schadendorf, Dirk (1); Ghiorzo, Paola (1); Hoiom, Veronica (1); Anton Puig-Butille, ... (1); show less...

University: Lund University (3); Karolinska Institutet (2)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (3)

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