Results 51 to 60 of about 51,568 (249)
Molecular Cytogenetics, 2022 Background A patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to have a catastrophic cytogenetic event that manifested as a treatment-refractory aggressive form of ...
Ramakrishnan Sasi +6 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1),
Min Xie +6 more
doaj +1 more source
NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment
Advanced Science, EarlyView.The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou +6 more
wiley +1 more source
Advanced Science, EarlyView.An m6A‐modified circRNA, circPSMB1, is identified as a tumor suppressor in chordoma. METTL3‐dependent m6A promotes circPSMB1 interaction with HNRNPA2B1, limiting c‐MYC expression and malignant progression. An injectable HMnO2‐based nanohydrogel enables local circPSMB1 delivery and tumor microenvironment‐responsive therapy, offering a promising strategy
Yingchuang Tang +7 more
wiley +1 more source
Advanced Science, EarlyView.To model a nutrient‐restricted tumor microenvironment, breast cancer cells were adapted to low glucose and glutamine levels. In the adapted cells, BRD4‐driven enhancer activation increases pro‐invasive EDN1 expression, facilitated by ATF3/c‐JUN and reinforced by enhancer RNA.
Poshan Yugal Bhattarai +4 more
wiley +1 more source
Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Acta Obstetricia et Gynecologica Scandinavica, 2023 Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang +12 more
doaj +1 more source
Advanced Science, EarlyView.Flux‐protection engineering stabilizes an oxidation‐prone L‐DOPA node in engineered E. coli by combining acid‐adapted chassis evolution, respiratory‐chain modulation, enzyme‐level flux matching, and pH–DO control. Carbon is redirected from oxidative browning to productive biosynthesis, enabling 1075.2 mg/L curcumin and demonstrating transferability to ...
Jianbin Chen +10 more
wiley +1 more source
Angewandte Chemie, EarlyView.BZ2 is a second‐generation Bromodomain PHD finger Transcription Factor (BPTF) inhibitor with improved selectivity over Class I and Class IV BRD off‐targets identified in our previously reported inhibitor, BZ1. Structural analyses reveal that water network engagement is key to this selectivity.
Kesavan Babu +19 more
wiley +2 more sources
Molecular Cytogenetics, 2019 Background Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene ...
Fabrizia Restaldi +11 more
doaj +1 more source
AID induces double-strand breaks at immunoglobulin switch regions and c-MYC causing chromosomal translocations in yeast THO mutants. [PDF]
PLoS Genetics, 2011 Transcription of the switch (S) regions of immunoglobulin genes in B cells generates stable R-loops that are targeted by Activation Induced Cytidine Deaminase (AID), triggering class switch recombination (CSR), as well as translocations with c-MYC ...
José F Ruiz +2 more
doaj +1 more source