Results 71 to 80 of about 98,141 (333)
Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management [PDF]
, 2016 Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks).
Abed, M.m. +8 more
core +1 more source
Arthritis &Rheumatology, EarlyView.Objective International criteria for antiphospholipid syndrome (APS) include lupus anticoagulant (LA), anticardiolipin (aCL) IgG and IgM, and anti–β2‐glycoprotein I (β2GPI) IgG and IgM. However, evidence supporting their prognostic value or treatment efficacy in improving live birth rates is limited.
Megumi Nonobe +8 more
wiley +1 more source
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 +10 more
doaj +1 more source
Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
core +3 more sources
Mechanisms of aneuploidy [PDF]
Current Opinion in Cell Biology, 2011 Accurate chromosome segregation during cell division is essential for genome integrity. Errors in chromosome segregation are irreversible and lead to a state of aneuploidy where the number of chromosomes in a cell or organism is not a multiple of the haploid number of chromosomes.
openaire +2 more sources
LZTS2 Negatively Regulates Centrosomal CEP135 Levels and Microtubule Nucleation
Cytoskeleton, EarlyView.ABSTRACT The microtubule cytoskeleton is a fundamental functional component of the cell. In vertebrate proliferating cells, centrosomes are the primary microtubule organizing center (MTOC), and their dysregulation has been linked to genomic instability and cancer.
Catarina Peneda +4 more
wiley +1 more source
Complex interplay between p53 and chromosome stability
Molecular & Cellular Oncology, 2021 TP53-dependent cell cycle arrest has been proposed to limit the proliferation of aneuploid cells. We investigated the cellular response to aneuploidy in cell lines and organoid cultures and found that TP53 (also known as p53) is not activated following ...
Akshay Narkar, Blake A. Johnson, Rong Li
doaj +1 more source
Short- and long-term effects of chromosome mis-segregation and aneuploidy [PDF]
, 2015 Dividing cells that experience chromosome mis-segregation generate aneuploid daughter cells, which contain an incorrect number of chromosomes. Although aneuploidy interferes with the proliferation of untransformed cells, it is also, paradoxically, a ...
Amon, Angelika B, Santaguida, Stefano
core +1 more source
Developmental Dynamics, EarlyView.Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez +4 more
wiley +1 more source
The genetic basis of aneuploidy tolerance in wild yeast
eLife, 2020 Aneuploidy is highly detrimental during development yet common in cancers and pathogenic fungi – what gives rise to differences in aneuploidy tolerance remains unclear.
James Hose +8 more
doaj +1 more source