Results 41 to 50 of about 51,939 (308)

A rare case of acute coronary syndrome in a patient with turner syndrome

open access: yesResearch in Cardiovascular Medicine, 2016
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

open access: yesScientific Reports, 2023
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

open access: yesRevista de Medicina da UFC, 2023
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

open access: yesFEBS Letters, EarlyView.
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

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
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

open access: yesReproductive Biology and Endocrinology, 2022
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?

open access: yesMolecular Oncology, EarlyView.
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

open access: yesMolecular Oncology, EarlyView.
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

open access: yesMolecular Oncology, EarlyView.
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

open access: yesFEBS Open Bio, EarlyView.
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

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