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  • Engvall, MarieUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden (author)

Familial platelet disorder due to germline exonic deletions in RUNX1 : a diagnostic challenge with distinct alterations of the transcript isoform equilibrium

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • 2022-05-09
  • Taylor & Francis Group,2022
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-492419
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-492419URI
  • https://doi.org/10.1080/10428194.2022.2067997DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185291URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:149509907URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-516753URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies|Lions Cancer Research Foundation, Uppsala
  • Germline pathogenic variants in RUNX1 are associated with familial platelet disorder with predisposition to myeloid malignancies (FPD/MM) with intragenic deletions in RUNX1 accounting for almost 7% of all reported variants. We present two new pedigrees with FPD/MM carrying two different germline RUNX1 intragenic deletions. The aforementioned deletions encompass exons 1-2 and 9-10 respectively, with the exon 9-10 deletion being previously unreported. RNA sequencing of patients carrying the exon 9-10 deletion revealed a fusion with LINC00160 resulting in a change in the 3 ' sequence of RUNX1. Expression analysis of the transcript isoform demonstrated altered RUNX1a/b/c ratios in carriers from both families compared to controls. Our data provide evidence on the impact of intragenic RUNX1 deletions on transcript isoform expression and highlight the importance of routinely performing copy number variant analysis in patients with suspected MM with germline predisposition.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Karlsson, YlvaUppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)ylvakarl (author)
  • Kuchinskaya, Ekaterina,1973-Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden(Swepub:liu)ekaku57 (author)
  • Jörnegren, ÅsaÖrebro Univ Hosp, Dept Pediat, Örebro, Sweden.,Department of Pediatrics, Örebro University Hospital, Örebro, Sweden (author)
  • Mathot, LucyUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)lucma494 (author)
  • Pandzic, TatjanaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)tatdj291 (author)
  • Palle, Josefine,1964-Uppsala universitet,Barnonkologisk och neurologisk forskning,Uppsala Univ, Sweden,Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden(Swepub:uu)jopal516 (author)
  • Ljungström, Viktor,1986-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)viklj600 (author)
  • Cavelier, LuciaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)lucicava (author)
  • Lindberg, Eva HellströmKarolinska Institutet,Department of Medicine, Division of Hematology, Huddinge, Karolinska University Hospital, Stockholm, Sweden;Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden (author)
  • Cammenga, Jörg,1969-Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Hematologiska kliniken US,Department of Hematology, Linköping University Hospital, Linköping, Sweden;Department of Molecular Medicine and Virology (MMV), Division of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden(Swepub:liu)jorca02 (author)
  • Baliakas, Panagiotis,1977-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)panba345 (author)
  • Uppsala universitetScience for Life Laboratory, SciLifeLab (creator_code:org_t)

Related titles

  • In:Leukemia and Lymphoma: Taylor & Francis Group63:10, s. 2311-23201042-81941029-2403

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