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Literature summary for 2.4.1.212 extracted from

  • Adamia, S.; Reichert, A.A.; Kuppusamy, H.; Kriangkum, J.; Ghosh, A.; Hodges, J.J.; Pilarski, P.M.; Treon, S.P.; Mant, M.J.; Reiman, T.; Belch, A.R.; Pilarski, L.M.
    Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia (2008), Blood, 112, 5111-5121.
    View publication on PubMed

Application

Application Comment Organism
medicine somatic HAS1 genetic variations occur in all hematopoietic cells tested, including normal CD34 hematopoietic progenitor cells and T cells, or as tumor-specific genretic variations restricted to malignant B and plasma cells. HAS1 genetic variations direct aberrant HAS1 intronic splicing. Nearly all newly identified inherited and somatic genetic variations in multiple myeloma and/or Waldenstrom macroglobulinemia are absent from B chronic lymphocytic leukemia, nonmalignant disease, and healthy donors Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q92839 isoform HAS1; patients with multiple myeloma and Waldenstrom macroglobulinemia
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Source Tissue

Source Tissue Comment Organism Textmining
B-cell
-
Homo sapiens
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PBMC cell CD34+ Homo sapiens
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plasma cell
-
Homo sapiens
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T-cell
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
hyaluronan synthase 1
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Homo sapiens