Results 241 to 250 of about 184,862 (303)

Epithelial-to-mesenchymal transition drives cancer genomic instability. [PDF]

J Exp Clin Cancer Res
Carstens JL, Lovisa S.
europepmc   +1 more source

AI‐Driven Cancer Multi‐Omics: A Review From the Data Pipeline Perspective

Advanced Intelligent Discovery, EarlyView.
The exponential growth of cancer multi‐omics data brings opportunities and challenges for precision oncology. This review systematically examines AI's role in addressing these challenges, covering generative models, integration architectures, Explainable AI for clinical trust, clinical applications, and key directions for clinical translation.
Shilong Liu, Shunxiang Li, Kun Qian
wiley   +1 more source

Protein Expression Status of <i>HTR4</i> and <i>PDE4D</i> Genes in Glial Brain Tumors Followed by the Study of Genomic Instability. [PDF]

Life (Basel)
Milić M, Ademović N, Manojlović Gačić E, Baščarević V, Tanić N, Tanić N, Milić I.   +6 more
europepmc   +1 more source

An Integrated and Robust Deep Learning Framework for Denoising and Analyzing Single‐Cell Spatial Transcriptomics

Advanced Intelligent Systems, EarlyView.
Single‐cell Spatial Transcriptomics Analysis and Denoising Engine is introduced as a unified deep learning framework that jointly performs denoising, clustering, and gene prioritization in spatial transcriptomics. By integrating linear and nonlinear representations within a dual‐channel architecture, it improves robustness and accuracy, uncovers ...
Yaxuan Cui, Yang Cui, Ruheng Wang, Xin Zeng, Zheyong Zhu, Ding Yi, Ruihua Guo, Tetsuya Sakurai, Kenta Nakai, Xiucai Ye, Leyi Wei, Yong Chen   +11 more
wiley   +1 more source

Dihydroxyacetone decreases the dATP pool, inducing replication stress and genomic instability in BEAS-2B cells. [PDF]

J Biol Chem
Hussain S, Mukherjee N, Gassman NR.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Checkpoint-Dependent Sensitivities to Nucleoside Analogues Uncover Specific Patterns of Genomic Instability. [PDF]

Curr Issues Mol Biol
Kagalwala ZB, Chhipa MA, Kianfard Z, Karam E, Magalage SP, Sabatinos SA.   +5 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

TERT links telomere length to cancer risk by integrating genomic instability and immune modulation. [PDF]

Discov Oncol
Zhao J, Zhu J, Zhu K, Wang M, Gong W, Wang J, Liu S.   +6 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source