Results 101 to 110 of about 125,822 (294)

Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review

open access: yesJMIR Bioinformatics and Biotechnology
BackgroundChromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages.
Mega Obukohwo Sr Oyovwi   +3 more
doaj   +1 more source

T Cell Exhaustion in Cancer Immunotherapy: Heterogeneity, Mechanisms, and Therapeutic Opportunities

open access: yesAdvanced Science, EarlyView.
T cell exhaustion limits immunotherapy efficacy. This article delineates its progression from stem‐like to terminally exhausted states, governed by persistent antigen, transcription factors, epigenetics, and metabolism. It maps the exhaustion landscape in the TME and proposes integrated reversal strategies, providing a translational roadmap to overcome
Yang Yu   +7 more
wiley   +1 more source

Fetal calcifications are associated with chromosomal abnormalities.

open access: yes, 2015
The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal ...
Nikos Papadogiannakis   +9 more
core   +1 more source

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

open access: yesAdvanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei   +12 more
wiley   +1 more source

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells

open access: yesAdvanced Science, EarlyView.
In this article, Shuai and colleagues demonstrate that metabolic remodeling drives self‐diploidization in murine haploid ESCs (haESCs). Mitochondrial dysfunction and imbalanced pyruvate metabolism underlie this process. Genome‐wide screening using haESCs identifies key mitochondrial quality‐control related genes, enabling a metabolism‐based medium that
Yi Fu   +11 more
wiley   +1 more source

Multi‐Omics Profiling Reveals Immunomodulatory and Pro‐Regenerative Effects of a Graphene Oxide–Collagen Scaffold in Massive Rotator Cuff Tears

open access: yesAdvanced Science, EarlyView.
A graphene oxide/collagen scaffold is developed for chronic massive rotator cuff tear repair. The scaffold improves compressive stability, supports reparative mesenchymal differentiation, and modulates the immune microenvironment. In chronic MRCT models, it reduces muscle degeneration, enhances tendon–bone regeneration, and improves functional recovery,
Renwen Wan   +24 more
wiley   +1 more source

De novo chromosomal abnormalities and month of conception.

open access: yes, 2006
Objectives We set Out to study the possible relationship between the occurrence of chromosomal abnormalities and the month of conception using data from 7 years of prenatal diagnosis.
DECARLI A   +7 more
core   +1 more source

Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy [PDF]

open access: yes, 1999
Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects ...
Watters, A.D.   +4 more
core   +1 more source

SETD1A Regulates Glycolysis and Senescence of Nucleus Pulposus Cells via H3K4me3–HELZ2/PPARα‐HIF1α Axis to Drive Intervertebral Disc Degeneration

open access: yesAdvanced Science, EarlyView.
SETD1A is a key epigenetic regulator in NPCs during IDD. In normal NPCs, it sustains H3K4me3–HELZ2/PPARα–HIF1α signaling to maintain glycolytic energy metabolism and proliferation. In degenerated NPCs, reduced SETD1A disrupts this axis, impairing glycolysis and accelerating senescence, highlighting a promising therapeutic target for IDD.
Jiawei Fu   +11 more
wiley   +1 more source

The Landscape and Regulation of Histone Crotonylation in Mammalian Gametes and Early Embryos

open access: yesAdvanced Science, EarlyView.
Histone crotonylation undergoes a genome‐wide transition from broad domains to canonical narrow peaks during minor zygotic genome activation (ZGA). This remodeling is required for proper major ZGA and blastocyst formation. Disruption of this transition by transcriptional inhibition, metabolic perturbation, or HDAC1 dysfunction impairs embryonic ...
Shenli Yuan   +8 more
wiley   +1 more source

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