Results 121 to 130 of about 113,215 (275)

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

Environmental 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, Guangchao Chen, Kerry L. Dearfield, Min Gi, Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Alexandra S. Long, David P. Lovell, Barbara L. Parsons, Stefan Pfuhler, John Wills, Andreas Zeller, George Johnson, Paul A. White   +14 more
wiley   +1 more source

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

Frontiers in Genetics
Chromosomes 3 and 8 harbor genes essential for neurodevelopment, skeletal formation, and metabolic regulation. We report a case of two half-siblings with neurodevelopmental delay and intellectual disability who inherited a derivative chromosome 3 from ...
Andrés León, Alex S. Aguirre, Alex S. Aguirre, Anna Lindstrand, Marlene Ek, Vanessa I. Romero   +5 more
doaj   +1 more source

Epigenotoxicity: Decoding the epigenetic imprints of genotoxic agents and their implications for regulatory genetic toxicology

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk, Christopher Faulk, Jessica LaRocca, Jan van Benthem, Francesco Marchetti   +4 more
wiley   +1 more source

Clinical profile and cytogenetics of siblings with Jacobsen syndrome

Journal of Current Research in Scientific Medicine
The clinical care of patients has greatly benefited from the advancement of genetic testing. Over time, a gradual move toward a “genotype-first” strategy and growing use of genome-wide testing techniques such as chromosomal microarray analysis and next ...
Abinaya Gunalan, Priya Jose, Allen David, Peter Prasanth Kumar Kommu   +3 more
doaj   +1 more source

Characterization of water and wildlife strains as a subgroup of Campylobacter jejuni using DNA microarrays.

, 2013
Campylobacter jejuni is the leading cause of human bacterial gastroenteritis worldwide, but source attribution of the organism is difficult. Previously, DNA microarrays were used to investigate isolate source, which suggested a non-livestock source of ...
Altschul, Brandl, Champion, Dingle, Dingle, Dorrell, Ethelberg, Francisco, French, Gundogdu, Harris, Hepworth, Hepworth, Hinchliffe, Howard, Huelsenbeck, Jensen, Jorgensen, Joshua, Kalendar, Karenlampi, Katoh, Katoh, Kemp, Kim, Kim, King, Kwan, Kwan, Manning, McCarthy, Mellmann, Miller, Moen, Murphy, Ogden, On, Park, Pearson, Petersen, Ronquist, Rosef, Rosef, Sails, Sanad, Schonberg-Norio, Skirrow, Skirrow, Stabler, Staden, Staden, Taboada, Taboada, Tam, Tam, Wilson   +55 more
core   +1 more source

Consensus findings of an International Workshops on Genotoxicity Testing workshop on using transcriptomic biomarkers to predict genotoxicity

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Gene expression biomarkers have the potential to identify genotoxic and non‐genotoxic carcinogens, providing opportunities for integrated testing and reducing animal use. In August 2022, an International Workshops on Genotoxicity Testing (IWGT) workshop was held to critically review current methods to identify genotoxicants using ...
Roland Froetschl, J. Christopher Corton, Henghong Li, Jiri Aubrecht, Scott S. Auerbach, Florian Caiment, Tatyana Y. Doktorova, Yurika Fujita, Danyel Jennen, Naoki Koyama, Matthew J. Meier, Roman Mezencev, Leslie Recio, Takayoshi Suzuki, Carole L. Yauk   +14 more
wiley   +1 more source

Review of Transcriptomic Biomarkers That Predict In Vitro Genotoxicity in Human Cell Lines

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT The current genotoxicity testing paradigm provides little mechanistic information, has poor specificity in predicting carcinogenicity in humans, and is not suited to assessing a large number of chemicals. Genomic technologies enable the characterization of genome‐wide transcriptional changes in response to chemical treatments that can inform ...
Heng‐Hong Li, Jiri Aubrecht, Tatyana Y. Doktorova, Danyel Jennen, J. Christopher Corton, Roland Froetschl, Roman Mezencev, Carole L. Yauk   +7 more
wiley   +1 more source

Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis [PDF]

, 2022
Gabriela Roldão Correia‐Costa, Ilária Cristina Sgardioli, Ana Paula dos Santos, Tânia Kawasaki de Araujo, Rodrigo Secolin, Íscia Lopes‐Cendes, Vera Lúcia Gil‐da‐Silva‐Lopes, Társis Paiva Vieira   +7 more
openalex   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source