Search: onr:"swepub:oai:DiVA.org:uu-383193" >
RNA Sequencing Prov...
-
Backman, SamuelUppsala universitet,Experimentell kirurgi
(author)
RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas
- Article/chapterEnglish2019
Publisher, publication year, extent ...
-
2019-04-18
-
NATURE PUBLISHING GROUP,2019
-
electronicrdacarrier
Numbers
-
LIBRIS-ID:oai:DiVA.org:uu-383193
-
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-383193URI
-
https://doi.org/10.1038/s41598-019-41525-2DOI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:ref swepub-contenttype
-
Subject category:art swepub-publicationtype
Notes
-
De två första författarna delar förstaförfattarskapet.
-
Aldosterone producing adenomas (APAs) occur in the adrenal glands of around 30% of patients with primary aldosteronism, the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D and CTNNB1 have been described in similar to 60% of these tumours. We subjected 15 aldosterone producing adenomas (13 with known mutations and two without) to RNA Sequencing and Whole Genome Sequencing (n = 2). All known mutations were detected in the RNA-Seq reads, and mutations in ATP2B3 (G123R) and CACNA1D (S410L) were discovered in the tumours without known mutations. Adenomas with CTNNB1 mutations showed a large number of differentially expressed genes (1360 compared to 106 and 75 for KCNJ5 and ATP1A1/ATP2B3 respectively) and clustered together in a hierarchical clustering analysis. RT-PCR in an extended cohort of 49 APAs confirmed higher expression of AFF3 and ISM1 in APAs with CTNNB1 mutations. Investigation of the expression of genes involved in proliferation and apoptosis revealed subtle differences between tumours with and without CTNNB1 mutations. Together our results consolidate the notion that CTNNB1 mutations characterize a distinct subgroup of APAs.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Åkerström, TobiasUppsala universitet,Experimentell kirurgi(Swepub:uu)tobak884
(author)
-
Maharjan, RajaniUppsala universitet,Experimentell kirurgi,Uppsala Univ, Dept Surg Sci, Uppsala, Sweden(Swepub:uu)mahra921
(author)
-
Cupisti, KenkoMarien Hosp, Dept Surg, Euskirchen, Germany
(author)
-
Willenberg, Holger S.Rostock Univ, Med Ctr, Div Endocrinol & Metab, Rostock, Germany
(author)
-
Hellman, PerUppsala universitet,Experimentell kirurgi(Swepub:uu)perhellm
(author)
-
Björklund, PeymanUppsala universitet,Experimentell kirurgi(Swepub:uu)pebjo957
(author)
-
Uppsala universitetExperimentell kirurgi
(creator_code:org_t)
Related titles
-
In:Scientific Reports: NATURE PUBLISHING GROUP92045-2322
Internet link
Find in a library
To the university's database