↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Nilsson Ulf Göran 1956 ) srt2:(2010-2014)"

Search: WFRF:(Nilsson Ulf Göran 1956 ) > (2010-2014)

Result 1-2 of 2

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Holmgren, Noél, et al. (author) Assessment of Research and Collaboration 2013 2013 Reports (pop. science, debate, etc.)
2.	Rohlin, Anna, et al. (author) A mutation in POLE predisposing to a multi-tumour phenotype 2014 In: International Journal of Oncology. - : Spandidos Publications. - 1019-6439 .- 1791-2423. ; 45:1, s. 77-81 Journal article (peer-reviewed)abstract Somatic mutations in the POLE gene encoding the catalytic subunit of DNA polymerase epsilon have been found in sporadic colorectal cancers (CRCs) and are most likely of importance in tumour development and/or progression. Recently, families with dominantly inherited colorectal adenomas and colorectal cancer were shown to have a causative heterozygous germline mutation in the proofreading exonuclease domain of POLE. The highly penetrant mutation was associated with predisposition to CRC only and no extra-colonic tumours were observed. We have identified a mutation in a large family in which the carriers not only developed CRC, they also demonstrate a highly penetrant predisposition to extra-intestinal tumours such as ovarian, endometrial and brain tumours. The mutation, NM_006231.2:c.1089C>A, p.Asn363Lys, also located in the proofreading exonuclease domain is directly involved in DNA binding. Theoretical prediction of the amino acid substitution suggests a profound effect of the substrate binding capability and a more severe impairment of the catalytic activity compared to the previously reported germline mutation. A possible genotype to phenotype correlation for deleterious mutations in POLE might exist that needs to be considered in the follow-up of mutation carriers.

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-2 of 2

Refine your search

Type of publication: reports (1); journal article (1)

Type of content: pop. science, debate, etc. (1); peer-reviewed (1)

Author/Editor: Nilsson, Staffan, 19 ... (1); Martinsson, Tommy, 1 ... (1); Rohlin, Anna (1); Wahlström, Jan, 1939 (1); Holmgren, Noél (1); Lindblom, Jessica, 1 ... (1); show more...; Nilsson, Pernilla (1); Karlsson, B Göran, 1 ... (1); Andersson, Monica (1); Syberfeldt, Anna, 19 ... (1); Tengblad, Stefan, 19 ... (1); Kazemi, Ali, 1976- (1); Nordling, Margareta, ... (1); Niklasson, Lars, 196 ... (1); Pehrsson, Leif, 1970 ... (1); Lundell, Björn (1); Ziemke, Tom, 1969- (1); Zagoras, Theofanis (1); Hultén, Leif, 1931 (1); Bergh, Ingrid (1); Olsson, Björn, 1962- (1); Persson, Anne, 1957- (1); Johannesson, Krister ... (1); Pihlström, Malin (1); Billing, Anna (1); Nilsson, Ulf-Göran, ... (1); Grönborg, Lisa (1); Elowson, Anne-louise (1); Vizlin, Albina (1); Klingspor, Pernilla (1); Blomgren, Lars-Göran (1); Larsson, Matts (1); Taylor, Mario (1); Akersten, Eva (1); Adolfsson, Josef (1); Lundstam, Ulf, 1972 (1); show less...

University: University of Gothenburg (1); Uppsala University (1); University of Skövde (1); Chalmers University of Technology (1); Högskolan Dalarna (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1); Social Sciences (1)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view