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Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.
ACR Open Rheumatol
January 2025
Sidney Kimmel Medical College at Thomas Jefferson University and Jefferson Einstein Hospital, Philadelphia, Pennsylvania.
Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
View Article and Find Full Text PDFBackground: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFMarginal zone lymphoma of mucosa associated lymphoid tissue-lymphoma of the lacrimal gland in a young patient with Klinefelter syndrome: a case report.
J Med Case Rep
December 2024
Ministry of Health, Riyadh, Saudi Arabia.
Background: Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas. Lacrimal gland lymphoma is a disease of the elderly, with a median age of presentation of 70 years.
View Article and Find Full Text PDFX-inactive-specific transcript: a long noncoding RNA with a complex role in sex differences in human disease.
Biol Sex Differ
December 2024
Department of Internal Medicine, Pulmonary, Critical Care, and Sleep Medicine, Rush University Medical Center, Chicago, IL, 60612, USA.
In humans, the X and Y chromosomes determine the biological sex, XX specifying for females and XY for males. The long noncoding RNA X-inactive specific transcript (lncRNA XIST) plays a crucial role in the process of X chromosome inactivation (XCI) in cells of the female, a process that ensures the balanced expression of X-linked genes between sexes. Initially, it was believed that XIST can be expressed only from the inactive X chromosome (Xi) and is considered a typically female-specific transcript.
View Article and Find Full Text PDFMicrocell-mediated chromosome transfer between non-identical human iPSCs.
Mol Ther Nucleic Acids
December 2024
Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Article Synopsis
- Microcell-mediated chromosome transfer (MMCT) is a new technique for manipulating chromosome numbers using human induced pluripotent stem cells (hiPSCs) to create disease models with hyperaneuploidy.
- The study highlights the efficiency of using hiPSCs as both donor and recipient cells in the chromosome transfer process, allowing for the tagging and transfer of specific chromosomes like Chr21 and ChrY using CRISPR-Cas9.
- This innovative method aims to improve the study of rare diseases and enhance our understanding of early development by integrating key chromosomal regions into hiPSCs.
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