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Träfflista för sökning "WFRF:(Almlöf Jonas C) srt2:(2015-2019)"

Search: WFRF:(Almlöf Jonas C) > (2015-2019)

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1.
  • Langefeld, Carl D., et al. (author)
  • Transancestral mapping and genetic load in systemic lupus erythematosus
  • 2017
  • In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
  • Journal article (peer-reviewed)abstract
    • Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (similar to 50% of these regions have multiple independent associations); these include 24 novel SLE regions (P < 5 x 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.
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2.
  • Lindqvist, C. Mårten, et al. (author)
  • Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes
  • 2016
  • In: Oncotarget. - : Impact Journals, LLC. - 1949-2553. ; 7:39, s. 64071-64088
  • Journal article (peer-reviewed)abstract
    • To characterize the mutational patterns of acute lymphoblastic leukemia (ALL) we performed deep next generation sequencing of 872 cancer genes in 172 diagnostic and 24 relapse samples from 172 pediatric ALL patients. We found an overall greater mutational burden and more driver mutations in T-cell ALL (T-ALL) patients compared to B-cell precursor ALL (BCP-ALL) patients. In addition, the majority of the mutations in T-ALL had occurred in the original leukemic clone, while most of the mutations in BCP-ALL were subclonal. BCP-ALL patients carrying any of the recurrent translocations ETV6-RUNX1, BCR-ABL or TCF3-PBX1 harbored few mutations in driver genes compared to other BCP-ALL patients. Specifically in BCP-ALL, we identified ATRX as a novel putative driver gene and uncovered an association between somatic mutations in the Notch signaling pathway at ALL diagnosis and increased risk of relapse. Furthermore, we identified EP300, ARID1A and SH2B3 as relapse-associated genes. The genes highlighted in our study were frequently involved in epigenetic regulation, associated with germline susceptibility to ALL, and present in minor subclones at diagnosis that became dominant at relapse. We observed a high degree of clonal heterogeneity and evolution between diagnosis and relapse in both BCP-ALL and T-ALL, which could have implications for the treatment efficiency.
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  • Result 1-4 of 4
Type of publication
journal article (4)
Type of content
other academic/artistic (2)
peer-reviewed (2)
Author/Editor
Carlsson Almlöf, Jon ... (3)
Rönnblom, Lars (3)
Nordmark, Gunnel (2)
Padyukov, L (2)
Syvänen, Ann-Christi ... (2)
Sjowall, C (2)
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Gunnarsson, Iva (1)
Svenungsson, Elisabe ... (1)
Scherbarth, Hugo R (1)
Berbotto, Guillermo ... (1)
García, Mercedes A (1)
Truedsson, Lennart (1)
Alarcón-Riquelme, Ma ... (1)
D'Alfonso, Sandra (1)
Baca, Vicente (1)
Orozco, Lorena (1)
Ortego-Centeno, Norb ... (1)
Pons-Estel, Bernardo ... (1)
Martin, Javier (1)
Abrahamsson, Jonas (1)
Forestier, Erik (1)
Palle, Josefine (1)
Leonard, Dag, 1975- (1)
Eloranta, Maija-Leen ... (1)
Kelly, Jennifer A. (1)
Kaufman, Kenneth M. (1)
Guthridge, Joel M. (1)
Brown, Elizabeth E. (1)
Ramsey-Goldman, Rosa ... (1)
Reveille, John D. (1)
Vila, Luis M. (1)
Criswell, Lindsey A. (1)
Edberg, Jeffrey C. (1)
Freedman, Barry I. (1)
Gregersen, Peter K. (1)
Gilkeson, Gary S. (1)
Jacob, Chaim O. (1)
James, Judith A. (1)
Kamen, Diane L. (1)
Kimberly, Robert P. (1)
Merrill, Joan T. (1)
Niewold, Timothy B. (1)
Tsao, Betty P. (1)
Vyse, Timothy J. (1)
Langefeld, Carl D. (1)
Harley, John B. (1)
Gaffney, Patrick M. (1)
Övernäs, Elin (1)
Frostegard, Johan (1)
Cervera, Ricard (1)
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University
Uppsala University (4)
Karolinska Institutet (4)
Umeå University (3)
Stockholm University (1)
Linköping University (1)
Lund University (1)
Language
English (4)
Research subject (UKÄ/SCB)
Medical and Health Sciences (4)
Natural sciences (1)

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