Results 81 to 90 of about 97,243 (292)

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos

open access: yesDevelopmental 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

Increased frequency of aneuploidy in long-lived spermatozoa. [PDF]

open access: yesPLoS ONE, 2014
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

Interpretation of in vitro concentration‐response data for risk assessment and regulatory decision‐making: Report from the 2022 IWGT quantitative analysis expert working group meeting

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
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

Machine-learning analysis reveals an important role for negative selection in shaping cancer aneuploidy landscapes

open access: yesGenome Biology
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

open access: yesFrontiers in Bioscience-Landmark
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

open access: yesCell 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   +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]

open access: yes, 2014
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

Evaluation of the standard battery of in vitro genotoxicity tests to predict in vivo genotoxicity through mathematical modeling: A report from the 8th International Workshop on Genotoxicity Testing

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
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]

open access: yes, 2011
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

Target Binding of Black Phosphorus Nanomaterial to Polo‐Like Kinase 1 for Cancer Chemotherapy: A Mutual Selection of Nanomaterial and Protein

open access: yesExploration, EarlyView.
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

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