Results 181 to 190 of about 9,621,488 (249)

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

CNVoyant a machine learning framework for accurate and explainable copy number variant classification. [PDF]

Sci Rep
Schuetz RJ, Ceyhan D, Antoniou AA, Chaudhari BP, White P.   +4 more
europepmc   +1 more source

Understanding and Mitigating the Risk of Accelerated Biological Aging in Survivors of Cancer: A Scoping Review

Aging and Cancer, EarlyView.
Cancer treatment is associated with measurable acceleration of biological aging across epigenetic, telomere, senescence, and immune biomarkers. However, biomarker validation and interventional strategies remain limited, especially in hematologic malignancies, underscoring the need for standardized multi‐omic aging assessments and adequately powered ...
Moataz Ellithi, Emily Herdman, Danielle Westmark, Vijaya R. Bhatt   +3 more
wiley   +1 more source

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +1 more source

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease. [PDF]

Kidney Int Rep
Claus LR, Ernst RF, Elferink MG, van Deutekom HWM, van der Zwaag B, van Eerde AM.   +5 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Erratum to "CNViz: An R/Shiny application for interactive copy number variant visualization in cancer" [Journal of Pathology Informatics Volume 13, 2022, 100089]. [PDF]

J Pathol Inform
Ramesh RG, Bigdeli A, Rushton C, Rosenbaum JN.   +3 more
europepmc   +1 more source

P149: Exome sequencing vs chromosomal microarray for copy number variant detection*

Genetics in Medicine Open
Kirsty McWalter, Ganka Douglas, Amanda Lindy, Jane Juusola, Paul Kruszka   +4 more
doaj   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. [PDF]

Int J Mol Sci
Ghorbani F, de Boer EN, Fokkens MR, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Wierenga E, Kasaei H, Noordermeer D, Verbeek DS, Westers H, van Diemen CC.   +10 more
europepmc   +1 more source