Results 201 to 210 of about 13,282 (244)

Identification of a novel component of the nonsense-mediated mRNA decay pathway by use of an interacting protein screen.

, 1995
Fei He, Allan Jacobson
openalex   +1 more source

The Dual Pathways to Masculinity Threats: The Roles of Social Role Incongruity and Social Connection in Masculine Identity Maintenance Among Gay and Straight Men

European Journal of Social Psychology, EarlyView.
ABSTRACT Humans are hardwired to seek out social connections, as well as monitor for warning signs that their belonging may be at risk. Social identities provide a mechanism through which to monitor belonging, shaping how people understand and see themselves, as well as how they are perceived by others. This large qualitative study (n = 203) presents a
Veronica M. Lamarche, Alyssa Croft, Ciara Atkinson   +2 more
wiley   +1 more source

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

Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice

, 1997
Ryoko Araki, Akira Fujimori, Kiyohiro Hamatani, Kazuei Mita, Toshiyuki Saito, Masahiko Mori, Ryutaro Fukumura, Mitsuoki Morimyo, Masahiro Muto, Masahiro Itoh, Kouichi Tatsumi, Masumi Abe   +11 more
openalex   +1 more source

Emotions and policy change in the wake of political scandals: How did the Qatargate shake the European Parliament?

European Policy Analysis, EarlyView.
Abstract While there is an increasing interest in the role of emotions in policy studies, not much is known about how emotions unfold in one of the most emotional situations that can be encountered in politics: political scandals. To investigate how the discursive articulation of emotions shapes the policy responses to political misconduct from a ...
Rosa Sanchez Salgado, Seda Gürkan
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

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications

Epilepsia Open, EarlyView.
Abstract A large number of cases with Dravet syndrome (DS) has been attributed to SCN1A loss of function (LOF), whereas SCN1A gain‐of‐function (GOF) causes early infantile developmental and epileptic encephalopathy (EIDEE) and familial hemiplegic migraine 3.
Yoko Kobayashi Takahashi, Kenshiro Tabata, Shimpei Baba, Eri Takeshita, Noriko Sumitomo, Yuko Shimizu‐Motohashi, Takashi Saito, Eiji Nakagawa, Atsushi Ishii, Shinichi Hirose, Mitsuhiro Kato, Naomichi Matsumoto, Hirofumi Komaki, Ken Inoue   +13 more
wiley   +1 more source

Proteome‐Wide Mendelian Randomization Identifies Candidate Causal Proteins for Cardiovascular Diseases

Advanced Genetics, EarlyView.
Here, causal relations are examined between 2940 plasma proteins and 19 cardiovascular diseases (CVD) using a human genetics‐based method. 218 proteins are found whose blood levels influence CVD risks, with about half being new discoveries and largely confirmed in an independent cohort.
Chen Li, Nicolas De Jay, Shan‐Shan Zhang, Xin Fang, Supriya Sharma, Katrina A. Catalano, Venkatesh Sridharan, Zhaoqing Wang, Lei Zhao, Joseph D. Szustakowski, Ching‐Pin Chang, Joseph C. Maranville, Emily R. Holzinger, Erika M. Kvikstad   +13 more
wiley   +1 more source

Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis

Head &Neck, EarlyView.
ABSTRACT Background Data connecting PTEN mutations with thyroid cancer risk for indeterminate nodules remain limited due to the rare nature of these mutations. The aim of this study was to determine the relationship between PTEN mutations identified in cytologically indeterminate nodules and final pathology and clinical outcomes.
Lauren E. Schlegel, Madelaine Brill‐Edwards, Zi‐Xuan Wang, Christopher McNair, Stacey Gargano, Elizabeth Cottrill   +5 more
wiley   +1 more source