A rare case of acute coronary syndrome in a patient with turner syndrome
Introduction: In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients.
Tugba Kemaloglu +2 more
doaj +1 more source
Reduced effects of social feedback on learning in Turner syndrome
Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X chromosomes. Previous studies indicate that Turner syndrome is associated with challenges in social skills, but the underlying mechanisms remain largely ...
Hanna Björlin Avdic +9 more
doaj +1 more source
Síndrome de Turner - sugestão de protocolo de condutas em crianças e adolescentes
A síndrome de Turner (ST) ocorre em 1 a cada 2.000-4.000 meninas e pode afetar múltiplos órgãos ao longo de todos os estágios da vida, necessitando de cuidados multidisciplinares.
Mayara Teixeira Alexandrino Sales +7 more
doaj +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
Turner′s syndrome presenting as metabolic bone disease
Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal.
Sadishkumar Kamalanathan +3 more
doaj +1 more source
Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services
In this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy ...
MJ Schleedoorn +5 more
doaj +1 more source
TREX1, a predator for treating MSI‐H tumors?
Immunotherapy benefits many patients; yet, some with MSI‐H tumors remain unresponsive despite their high immunogenicity. Xu et al. reveal that TREX1 enables immune evasion by degrading cytosolic DNA and suppressing cGAS–STING–IFN‐I signaling. TREX1 loss restores DNA sensing, increases CD8+ T and NK cell infiltration, and boosts antitumor immunity ...
Elena Benidovskaya +2 more
wiley +1 more source
Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta +10 more
wiley +1 more source
Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley +1 more source
Overview of molecular signatures of senescence and associated resources: pros and cons
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas +6 more
wiley +1 more source

