Results 101 to 110 of about 93,321 (331)

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]

, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T, Leite, Renata, Pasqualucci, Carlos Augusto, Pearson, Peter, Rosenberg, Carla, Suemoto, Claudia K, Suemoto, Claudia K, Villela, Darine   +7 more
core   +1 more source

Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems

Molecular Cytogenetics, 2018
Background In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g.
Christine J. Ye, Sarah Regan, Guo Liu, Sarah Alemara, Henry H. Heng   +4 more
doaj   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Aging-induced stem cell mutations as drivers for disease and cancer [PDF]

, 2015
Aging is characterized by a decrease in genome integrity, impaired organ maintenance, and an increased risk of cancer, which coincide with clonal dominance of expanded mutant stem and progenitor cell populations in aging tissues, such as the intestinal ...
Adams, Peter D., Jasper, Heinrich, Rudolph, K. Lenhard   +2 more
core   +1 more source

Clinical and molecular correlates of tumor aneuploidy in metastatic non-small cell lung cancer

Scientific Reports
Recent studies have linked elevated tumor aneuploidy to anti-tumor immune suppression and adverse survival following immunotherapy. Herein, we provide supportive evidence for tumor aneuploidy as a biomarker of response to immunotherapy in patients with ...
Liam F. Spurr, Sean P. Pitroda
doaj   +1 more source

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

Recurrent patterns of DNA copy number alterations in tumors reflect metabolic selection pressures. [PDF]

, 2017
Copy number alteration (CNA) profiling of human tumors has revealed recurrent patterns of DNA amplifications and deletions across diverse cancer types.
Balanis, Nikolas G, Beck, Lillie, Braas, Daniel, Cass, Ashley, Chan, Shawna, Christofk, Heather R, Delgado, Adrian, Friedman, Michael, Go, James, Graeber, Thomas G, Graham, Nicholas A, Hurtz, Christian, Larson, Steven M, Lomova, Anastasia, Mellinghoff, Ingo K, Minasyan, Aspram, Multani, Asha S, Müschen, Markus, Ng, Carina, Palaskas, Nicolaos, Port, Elisa, Qiao, Rong, Schultz, Nikolaus, Ten Hoeve, Johanna, Wu, Hong, Zhao, Sophie   +25 more
core   +3 more sources

Embryo aneuploidy and ivf outcomes in patients with different spermatozoa aneuploidy rates

Гинекология, 2013
Our goal was to study the 13, 18, 21, X, Y chromosomes aneuploidy rate in the embryos of the couples with different spermatozoa aneuploidy rate.In prospective cohort study 56 infertile couples were divided into 3 groups by the spermatozoa aneuploidy rate
S A Sokur, N V Dolgushina, Zh I Glinkina, A G Gorshkova, E A Kalinina   +4 more
doaj  

Serine-Dependent Sphingolipid Synthesis Is a Metabolic Liability of Aneuploid Cells

Cell Reports, 2017
Aneuploidy disrupts cellular homeostasis. However, the molecular mechanisms underlying the physiological responses and adaptation to aneuploidy are not well understood.
Sunyoung Hwang, H. Tobias Gustafsson, Ciara O’Sullivan, Gianna Bisceglia, Xinhe Huang, Christian Klose, Andrej Schevchenko, Robert C. Dickson, Paola Cavaliere, Noah Dephoure, Eduardo M. Torres   +10 more
doaj   +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