Results 111 to 120 of about 50,865 (308)

Mechanisms of aneuploidy and its suppression by tumour suppressor proteins

Swiss Medical Weekly, 2011
Aneuploidy, as a result of numerical changes in chromosome number, was observed in tumours almost a century ago. The molecular mechanisms underlying this phenomenon and their impact on tumour development are still poorly understood.
C Thoma, A Toso, P Meraldi, W Krek
doaj   +1 more source

Chromosomal Aneuploidy, Mosaicism and Eugenics [PDF]

, 1969
H Zellweger
openalex   +1 more source

MicroRNA‐371–373 cluster and methylome analysis suggests that a subset of ‘somatic‐type’ malignancies arising in germ cell tumors may originate in yolk sac tumor components

The Journal of Pathology, EarlyView.
Abstract Somatic‐type malignancies (SMs) arising in germ cell tumors (GCTs) are aggressive neoplasms resistant to systemic treatment. Most are diagnosed in metastatic sites after chemotherapy; however, they have also been well‐documented in primary testicular GCTs.
João Lobo, Nuno Tiago Tavares, Diana Fonseca, Carmen Jerónimo, Rui Henrique, Nicolas Wyvekens, Yiying Yang, Matija Snuderl, Fiona Maclean, Jennifer Gordetsky, Christopher DM Fletcher, Michelle S Hirsch, Jason L Hornick, Muhammad T Idrees, Katrina Collins, Laura Warmke, Thomas M Ulbright, Andres M Acosta   +17 more
wiley   +1 more source

Evaluation of simulation methods for tumor subclonal reconstruction [PDF]

arXiv
Most neoplastic tumors originate from a single cell, and their evolution can be genetically traced through lineages characterized by common alterations such as small somatic mutations (SSMs), copy number alterations (CNAs), structural variants (SVs), and aneuploidies.
arxiv  

Relationship of DNA aneuploidy with distinctive features of oral potentially malignant disorders: A cytological analysis of 748 cases

Journal of Dental Sciences, 2022
Our previous study reported that clinical features, including the lateral/ventral tongue and non-homogeneous lesions, were associated with increased risk of malignant changes in cytological samples from oral potentially malignant disorders (OPMDs).
Yanyi Tang, Lijun Liu, Chenxi Li, Wei Liu, Linjun Shi   +4 more
doaj  

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

CHROMOSOME ANEUPLOIDY IN CHILDREN WITH NON-HEMATOPOIETIC UNTREATED TUMOURS [PDF]

, 1975
Massimo Lucarini, Pasi M. no, Rosanda C. Vadala   +2 more
openalex   +1 more source

Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, with most studies having small sample sizes. Here, we describe outcomes and management in a large cohort of pregnancies that screened positive for an RAA (RAA+).
Devika Chawla, D. Claire Miller, Summer Pierson, Lyuba Popadic, Francesca Devine, Dallas Reed, Katherine Johansen Taber   +6 more
wiley   +1 more source

The p38α Stress Kinase Suppresses Aneuploidy Tolerance by Inhibiting Hif-1α

Cell Reports, 2018
Summary: Deviating from the normal karyotype dramatically changes gene dosage, in turn decreasing the robustness of biological networks. Consequently, aneuploidy is poorly tolerated by normal somatic cells and acts as a barrier to transformation ...
Susana Simões-Sousa, Samantha Littler, Sarah L. Thompson, Paul Minshall, Helen Whalley, Bjorn Bakker, Klaudyna Belkot, Daniela Moralli, Daniel Bronder, Anthony Tighe, Diana C.J. Spierings, Nourdine Bah, Joshua Graham, Louisa Nelson, Catherine M. Green, Floris Foijer, Paul A. Townsend, Stephen S. Taylor   +17 more
doaj  

Density estimation for ordinal biological sequences and its applications [PDF]

arXiv
Biological sequences do not come at random. Instead, they appear with particular frequencies that reflect properties of the associated system or phenomenon. Knowing how biological sequences are distributed in sequence space is thus a natural first step toward understanding the underlying mechanisms.
arxiv