Results 131 to 140 of about 85,626 (243)

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Absence of t(14;18) chromosome translocation in agricultural workers after short-term exposure to pesticides

, 2017
Venerando Rapisarda, Caterina Ledda, Serena Matera, Lucrezia Fago, Giorgio Arrabito, Luca Falzone, Andrea Marconi, Massimo Libra, Carla Loreto   +8 more
openalex   +2 more sources

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes [PDF]

, 2010
Anna C. Obenauf, Thomas Schwarzbraun, Martina Auer, Eva Maria Hoffmann, Julie Waldispuehl‐Geigl, Peter Ulz, Barbara Günther, Hans‐Christoph Duba, Michael R. Speicher, Jochen B. Geigl   +9 more
openalex   +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

Chromosomal translocation t(11;14) and p53 deletion induced by the CRISPR/Cas9 system in normal B cell-derived iPS cells. [PDF]

Sci Rep, 2021
Azami Y, Tsuyama N, Abe Y, Sugai-Takahashi M, Kudo KI, Ota A, Sivasundaram K, Muramatsu M, Shigemura T, Sasatani M, Hashimoto Y, Saji S, Kamiya K, Hanamura I, Ikezoe T, Onodera M, Sakai A.   +16 more
europepmc   +1 more source

Novel t(1;2)(p36.1;q23) and t(7;19)(q32;q13.3) chromosomal translocations in ischemic fasciitis: expanding the spectrum of pseudosarcomatous lesions with clonal pathogenetic link [PDF]

, 2018
Taha Sachak, Nyla A. Heerema, Joel Mayerson, Jason E. Payne, Anil V. Parwani, O. Hans Iwenofu   +5 more
openalex   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Chromosomal Translocation t(5;12)(p13;q14) Leading to Fusion of High-mobility Group AT-hook 2 Gene With Intergenic Sequences From Chromosome Sub-Band 5p13.2 in Benign Myoid Neoplasms of the Breast: A Second Case. [PDF]

Cancer Genomics Proteomics, 2022
Panagopoulos I, Gorunova L, Andersen K, Lund-Iversen M, Hognestad HR, Lobmaier I, Micci F, Heim S.   +7 more
europepmc   +1 more source

Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR–Cas9 system [PDF]

, 2014
Raúl Torres, Marina Carrasco Martin, Angie Fernanda Rodriguez Garcia, Juan C. Cigudosa, Juan Carlos Ramı́rez, Sandra Rodríguez   +5 more
openalex   +1 more source

The hidden regulators: Non‐coding RNAs in KMT2A‐rearranged acute lymphoblastic leukemia

International Journal of Cancer, EarlyView.
Abstract Acute lymphoblastic leukemia (ALL) driven by KMT2A rearrangements (KMT2A‐r) is an aggressive hematologic malignancy with poor prognosis and a high incidence in infants. While KMT2A fusion proteins drive leukemogenesis through transcriptional dysregulation, recent discoveries have highlighted the pivotal role of non‐coding RNAs (ncRNAs) in ...
Maria Augusta Poersch, Ana Carolina Rodrigues, Priscila Elias Ferreira Stricker, Alexandre Luiz Korte Azevedo, Daniel Pacheco Bruschi, Jaqueline Carvalho de Oliveira   +5 more
wiley   +1 more source