Results 21 to 30 of about 97,243 (292)
On the origin of trisomy 21 Down syndrome [PDF]
, 2008 Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A. +6 more
core +2 more sources
Neurobiology of Disease, 2009 Recently it has been suggested that the human brain contains aneuploid cells; however the nature and magnitude of neural aneuploidy in health and disease remain obscure. Here, we have monitored aneuploidy in the cerebral cortex of the normal, Alzheimer's
Ivan Y. Iourov +3 more
doaj +1 more source
Aneuploidy and confined chromosomal mosaicism in the developing human brain. [PDF]
PLoS ONE, 2007 BACKGROUND: Understanding the mechanisms underlying generation of neuronal variability and complexity remains the central challenge for neuroscience.
Yuri B Yurov +11 more
doaj +1 more source
DNA double strand breaks but not interstrand crosslinks prevent progress through meiosis in fully grown mouse oocytes [PDF]
, 2012 There is some interest in how mammalian oocytes respond to different types of DNA damage because of the increasing expectation of fertility preservation in women undergoing chemotherapy.
Julie A. Merriman +4 more
core +10 more sources
Molecular signatures of aneuploidy-driven adaptive evolution
Nature Communications, 2020 Aneuploidy (abnormal chromosome number) can enable rapid adaptation to stress conditions, but it also entails fitness costs from gene imbalance. Here, the authors experimentally evolve yeast while forcing maintenance of aneuploidy to identify the ...
Alaattin Kaya +8 more
doaj +1 more source
PLoS Biology, 2019 Studying aneuploidy during organism development has strong limitations because chronic mitotic perturbations used to generate aneuploidy usually result in lethality.
Mihailo Mirkovic +4 more
doaj +1 more source
Aneuploidy tolerance caused by BRG1 loss allows chromosome gains and recovery of fitness
Nature Communications, 2022 Aneuploidy results in decreased cellular fitness in many species and model systems. However, aneuploidy is commonly found in cancer cells and often correlates with aggressive growth, suggesting that the impact of aneuploidy on cellular fitness is context
Federica Schiavoni +7 more
doaj +1 more source
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
, 2016 Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources
Chromosomal Instability, Aneuploidy, and Gene Mutations in Human Sporadic Colorectal Adenomas
Cellular Oncology, 2004 Whether in vivo specific gene mutations lead to chromosomal instability (CIN) and aneuploidy or viceversa is so far not proven. We hypothesized that aneuploidy among human sporadic colorectal adenomas and KRAS2 and APC mutations were not independent ...
Walter Giaretti +3 more
doaj +1 more source
Fertility & Reproduction, 2023 Background and Aims: Embryo aneuploidy is caused by many factors, including patient age, sperm quality and sperm selection method. There are several methods for selecting sperm, ICSI (intracytoplasmic sperm injection) and IMSI (intracytoplasmic ...
Reza Raharjo +3 more
doaj +1 more source