SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:DiVA.org:uu-422764"
 

Search: onr:"swepub:oai:DiVA.org:uu-422764" > Contributions of de...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00006769naa a2200673 4500
001oai:DiVA.org:uu-422764
003SwePub
008201015s2021 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:f9130b1b-bd0c-444d-a1da-785fb71fe0cb
009oai:DiVA.org:liu-168540
009oai:prod.swepub.kib.ki.se:144364295
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4227642 URI
0247 a https://doi.org/10.1038/s41431-020-0698-52 DOI
0247 a https://lup.lub.lu.se/record/f9130b1b-bd0c-444d-a1da-785fb71fe0cb2 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1685402 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1443642952 URI
040 a (SwePub)uud (SwePub)lud (SwePub)liud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Carlsson Almlöf, Jonasu Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)jonca820
2451 0a Contributions of de novo variants to systemic lupus erythematosus
264 c 2020-07-28
264 1b Springer Nature,c 2021
338 a electronic2 rdacarrier
500 a Funding Agencies|Knut and Alice Wallenberg FoundationKnut & Alice Wallenberg Foundation; Swedish Research Council for Medicine and Health [2018-02399, 2017-02000]; Swedish Rheumatism Association; King Gustaf Vs 80-year Foundation; Swedish Society of Medicine; Ingegerd Johansson donation
520 a By performing whole-genome sequencing in a Swedish cohort of 71 parent-offspring trios, in which the child in each family is affected by systemic lupus erythematosus (SLE, OMIM 152700), we investigated the contribution of de novo variants to risk of SLE. We found de novo single nucleotide variants (SNVs) to be significantly enriched in gene promoters in SLE patients compared with healthy controls at a level corresponding to 26 de novo promoter SNVs more in each patient than expected. We identified 12 de novo SNVs in promoter regions of genes that have been previously implicated in SLE, or that have functions that could be of relevance to SLE. Furthermore, we detected three missense de novo SNVs, five de novo insertion-deletions, and three de novo structural variants with potential to affect the expression of genes that are relevant for SLE. Based on enrichment analysis, disease-affecting de novo SNVs are expected to occur in one-third of SLE patients. This study shows that de novo variants in promoters commonly contribute to the genetic risk of SLE. The fact that de novo SNVs in SLE were enriched to promoter regions highlights the importance of using whole-genome sequencing for identification of de novo variants.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 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
653 a Medical Science
653 a Medicinsk vetenskap
7001 a Nystedt, Sarau Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)sarny218
7001 a Mechtidou, Aikateriniu Uppsala University,Uppsala Univ, Sweden4 aut
7001 a Leonard, Dag,d 1975-u Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)dagle338
7001 a Eloranta, Maija-Leenau Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)maelo020
7001 a Grosso, Giorgiau Karolinska Institutet4 aut
7001 a Sjöwall, Christopheru Linköpings universitet,Linköping University,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland4 aut0 (Swepub:liu)chrsj93
7001 a Bengtsson, Anders A.u Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Lund SLE Research Group,Forskargrupper vid Lunds universitet,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Lund Univ, Sweden4 aut0 (Swepub:lu)reum-abe
7001 a Jönsen, Andreasu Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Lund SLE Research Group,Forskargrupper vid Lunds universitet,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Lund Univ, Sweden4 aut0 (Swepub:lu)reum-ajo
7001 a Gunnarsson, Ivau Karolinska Institutet4 aut
7001 a Svenungsson, Elisabetu Karolinska Institutet4 aut
7001 a Rönnblom, Larsu Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)larsronn
7001 a Sandling, Johanna K.u Uppsala University,Uppsala universitet,Reumatologi,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)josan062
7001 a Syvänen, Ann-Christine,d 1950-u Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)anncsyva
7102 a Uppsala universitetb Molekylär medicin4 org
7730 t European Journal of Human Geneticsd : Springer Natureg 29:1, s. 184-193q 29:1<184-193x 1018-4813x 1476-5438
8564 u https://doi.org/10.1038/s41431-020-0698-5y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1476703/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://www.nature.com/articles/s41431-020-0698-5.pdf
8564 u http://dx.doi.org/10.1038/s41431-020-0698-5x freey FULLTEXT
8564 u https://liu.diva-portal.org/smash/get/diva2:1462167/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-422764
8564 8u https://doi.org/10.1038/s41431-020-0698-5
8564 8u https://lup.lub.lu.se/record/f9130b1b-bd0c-444d-a1da-785fb71fe0cb
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-168540
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:144364295

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

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.

 
pil uppåt Close

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