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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004393naa a2200493 4500
001oai:DiVA.org:su-104402
003SwePub
008140610s2014 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:5a2dd6e2-ef7c-492e-9833-9a282f71621e
024a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1044022 URI
024a https://doi.org/10.1038/ng.29272 DOI
024a https://lup.lub.lu.se/record/43798862 URI
040 a (SwePub)sud (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Hansén Nord, Karolinu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)klin-kha
2451 0a GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma
264 c 2014-03-23
264 1b Springer Science and Business Media LLC,c 2014
338 a print2 rdacarrier
500 a AuthorCount:10;
520 a Glutamate receptors are well-known actors in the central and peripheral nervous systems, and altered glutamate signaling is implicated in several neurological and psychiatric disorders. It is increasingly recognized that such receptors may also have a role in tumor growth. Here we provide direct evidence of aberrant glutamate signaling in the development of a locally aggressive bone tumor, chondromyxoid fibroma (CMF). We subjected a series of CMFs to whole-genome mate-pair sequencing and RNA sequencing and found that the glutamate receptor gene GRM1 recombines with several partner genes through promoter swapping and gene fusion events. The GRM1 coding region remains intact, and 18 of 20 CMFs (90%) showed a more than 100-fold and up to 1,400-fold increase in GRM1 expression levels compared to control tissues. Our findings unequivocally demonstrate that direct targeting of GRM1 is a necessary and highly specific driver event for CMF development.
650 7a NATURVETENSKAPx Kemi0 (SwePub)1042 hsv//swe
650 7a NATURAL SCIENCESx Chemical Sciences0 (SwePub)1042 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700a Lilljebjörn, Henriku Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)tmb-hli
700a Vezzi, Francescou Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab)4 aut0 (Swepub:su)fvezz
700a Nilsson, Jennyu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)med-jno
700a Magnusson, Lindau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)mphy-lma
700a Tayebwa, Johnboscou Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)med-jta
700a de Jong, Danielle4 aut
700a Bovee, Judith V. M. G.4 aut
700a Hogendoorn, Pancras C. W.4 aut
700a Szuhai, Karoly4 aut
710a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org
773t Nature Geneticsd : Springer Science and Business Media LLCg 46:5, s. 474-477q 46:5<474-477x 1061-4036x 1546-1718
856u http://www.ncbi.nlm.nih.gov/pubmed/24658000?dopt=Abstracty FULLTEXT
856u http://dx.doi.org/10.1038/ng.2927y FULLTEXT
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-104402
8564 8u https://doi.org/10.1038/ng.2927
8564 8u https://lup.lub.lu.se/record/4379886

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