Results 141 to 150 of about 114,676 (292)

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

Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked

, 2015
Polly Niravath, Tanya N. Eble, Alejandro Contreras, Marilyn M. Li, Luis M. Franco, Mothaffar F. Rimawi   +5 more
openalex   +1 more source

The Relationship Between Frequencies of Extracolonic Manifestations and the Position of APC Germline Mutation in Patients with Familial Adenomatous Polyposis [PDF]

, 2000
Masaya Enomoto
openalex   +1 more source

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

Epilepsia, EarlyView.
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler, Thomas Roetzer‐Pejrimovsky, Julia Binder, Theresa Reischer, Mateja Pfeifer, Anke Scharrer, Christof Worda, Tina Linder, Alex Farr, Romana Höftberger, Ellen Gelpi, Christian Mitter, Gregor Kasprian, Christine Haberler, Nicole Amberg   +16 more
wiley   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis [PDF]

, 2022
Michael Pudjihartono, Jo K. Perry, Cristin G. Print, Justin M. O’Sullivan, William Schierding   +4 more
openalex   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

Supplementary Table 1 from Germline Mutations in BAP1 Impair Its Function in DNA Double-Strand Break Repair

, 2023
Ismail Hassan Ismail, Riley Davidson, Jean‐Philippe Gagné, Zhi Xu, Guy G. Poirier, Michael J. Hendzel   +5 more
openalex   +1 more source

Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China

, 2007
Chao‐Fu Wang, Xiao-Yan Zhou, Tai-Ming Zhang, Ye Xu, San-Jun Cai, Da-Ren Shi   +5 more
openalex   +2 more sources

Additional file 10 of An immune-centric exploration of BRCA1 and BRCA2 germline mutation related breast and ovarian cancers

, 2020
Ewa Przybytkowski, Thomas P. Davis, Abdelrahman Hosny, Julia Eismann, Ursula A. Matulonis, Gerburg M. Wulf, Sheida Nabavi   +6 more
openalex   +1 more source