Search results for: AGE OF ONSET

• Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats

  Publication

  • A. Stanisławska-Sachadyn
  • M. Krzemiński
  • D. Zielonka
  • M. Krygier
  • E. Ziętkiewicz
  • J. Sławek
  • J. Limon

  - Scientific Reports - Year 2024

  Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington’s Disease...

  Full text to download in external service

• Genome-Wide DNA Methylation and Gene Expression in Patients with Indolent Systemic Mastocytosis

  Publication

  • A. Górska
  • M. Urbanowicz
  • Ł. Grochowalski
  • M. Seweryn
  • M. Sobalska-Kwapis
  • T. K. Wojdacz
  • M. Lange
  • M. Gruchała-Niedoszytko
  • J. Jarczak
  • D. Strapagiel... and 6 others

  - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - Year 2023

  Mastocytosis is a clinically heterogenous, usually acquired disease of the mast cells with a survival time that depends on the time of onset. It ranges from skin-limited to systemic disease, including indolent and more aggressive variants. The presence of the oncogenic KIT p. D816V gene somatic mutation is a crucial element in the pathogenesis. However, further epigenetic regulation may also affect the expression of genes that...

  Full text available to download