Results 81 to 90 of about 97,243 (292)
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
Increased frequency of aneuploidy in long-lived spermatozoa. [PDF]
Aneuploidy commonly causes spontaneous abortions, stillbirths, and aneuploid births in humans. Notably, the majority of sex chromosome aneuploidies in live births have a paternal origin.
Young-Ah You +6 more
doaj +1 more source
Abstract Quantitative risk assessments of chemicals are routinely performed using in vivo data from rodents; however, there is growing recognition that non‐animal approaches can be human‐relevant alternatives. There is an urgent need to build confidence in non‐animal alternatives given the international support to reduce the use of animals in toxicity ...
Marc A. Beal +14 more
wiley +1 more source
Background Aneuploidy, an abnormal number of chromosomes within a cell, is a hallmark of cancer. Patterns of aneuploidy differ across cancers, yet are similar in cancers affecting closely related tissues.
Juman Jubran +5 more
doaj +1 more source
Machine Learning Reveals Aneuploidy Characteristics in Cancers: The Impact of BEX4
Background: Aneuploidy is crucial yet under-explored in cancer pathogenesis. Specifically, the involvement of brain expressed X-linked gene 4 (BEX4) in microtubule formation has been identified as a potential aneuploidy mechanism ...
Aizhong Xu +13 more
doaj +1 more source
The p38α Stress Kinase Suppresses Aneuploidy Tolerance by Inhibiting Hif-1α
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 +17 more
doaj +1 more source
DNA content analysis of colorectal cancer defines a distinct ‘microsatellite and chromosome stable’ group but does not predict response to radiotherapy [PDF]
Colorectal cancers (CRC) are thought to have genetic instability in the form of either microsatellite instability (MSI) or chromosomal instability (CIN).
Abdel-Rahman +44 more
core +2 more sources
Abstract In human health risk assessment of chemicals and pharmaceuticals, identification of genotoxicity hazard usually starts with a standard battery of in vitro genotoxicity tests, which is needed to cover all genotoxicity endpoints. The individual tests included in the battery are not designed to pick up all endpoints.
Mirjam Luijten +15 more
wiley +1 more source
Chromosomal disorders and male infertility [PDF]
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.
Harton, Gary L. +1 more
core +1 more source
This study investigates the effect of protein properties on the nanomaterial‐protein interaction and elucidates the molecular mechanisms underlying the targeted inhibition of polo‐like kinase (PLK1) by black phosphorus nanomaterials (BPNMs). The specific targeting inhibition is attributed to the intrinsic properties of both the PLK1 protein and the ...
Fangfang Liu +15 more
wiley +1 more source

