Results 131 to 140 of about 62,957 (275)

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Incident‐Based Storytelling in Service‐Learning: Dental Learners’ Experiences and Key Insights

Journal of Dental Education, EarlyView.
Abstract Background Community service‐learning (CSL) is increasingly used in education to promote oral health equity and social responsibility; however, few studies have examined how reflective incident‐based storytelling narratives shape learner development within CSL contexts.
Abbas Jessani
wiley   +1 more source

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs. [PDF]

Mol Ther Nucleic Acids, 2023
Lima Cunha D, Sarkar H, Eintracht J, Harding P, Zhou JH, Moosajee M.   +5 more
europepmc   +1 more source

Investigating therapeutic nonsense suppression in a neurofibromatosis mouse model

Experimental Neurology
Neurofibromatosis type 1 (NF1) is a human genetic disorder caused by variants in the NF1 gene. Plexiform neurofibromas, one of many NF1 manifestations, are benign peripheral nerve sheath tumors occurring in up to 50% of NF1 patients. A substantial fraction of NF1 pathogenetic variants are nonsense mutations, which result in the synthesis of truncated ...
Wu, Chan, Shazeeb, Mohammed Salman, Mangkalaphiban, Kotchaphorn, Han, George, Peker, Ahmet, Rentiya, Zubir S, Gounis, Matthew J, Jacobson, Allan   +7 more
openaire   +3 more sources

Effects of testosterone and high‐dose anabolic steroids on orthodontic‐induced bone remodeling and root resorption: An animal study

Journal of Periodontology, EarlyView.
Abstract Background This study investigates the impact of disruptions in testosterone levels on bone remodeling, root resorption, and periodontal ligament (PDL) during orthodontic tooth movement (OTM) in a pubertal male rat model. Methods Testosterone deficiency was induced through orchiectomy, and the anabolic‐androgenic steroid (AAS, testosterone ...
Caio Luiz Bitencourt Reis, Kelly Galisteu‐Luiz, Gabriela Leite Pedroso, Gustavo Lopes Puls, Leticia Cassaro, Bruno Boaventura Vieira, Fábio Lourenço Romano, Erika Calvano Küchler, Christian Kirschneck, Daniela Silva Barroso de Oliveira, Maria Bernadete Sasso Stuani, Mirian Aiko Nakane Matsumoto   +11 more
wiley   +1 more source

Coping Practices of Small‐ and Medium‐Sized Enterprises Facing Power Asymmetry in Digital Platform Business

Strategic Change, EarlyView.
ABSTRACT Digital platform (DP) enterprises have risen to the top of the global economy by inverting traditional business models. They earn money through matchmaking, transaction facilitation, and efficient orchestration of other stakeholders' resources.
Lukas R. G. Fitz, Jochen Scheeg
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

MatImageAgent: A Large Language Multimodal Agent for Materials Characterization Images

Materials Genome Engineering Advances, EarlyView.
MatImageAgent, an LLM‐powered agent‐based system, automates materials science image analysis by task descriptions, shows high stability/accuracy, and boosts productivity by reducing programming needs. ABSTRACT Our study introduces MatImageAgent, an agent‐based system that employs large language models (LLMs) to completely automate the image analysis ...
Mingxi Jiang, Mohamed AitTamerd, Ziqing He, Wenzhu Bi, Manling Zhao, Shuran Li, Menghao Yang   +6 more
wiley   +1 more source

Coexistence, crossover and extirpation in coalescent communities and ecotones

Oikos, EarlyView.
When two ecological communities come into contact, the strength of their mixing determines whether species coexist, extirpate, or extend their ranges. We present analytical formulas and simulations describing these transitions. Specifically, we derive abundance shifts upon community coalescence, identify the critical mixing strength leading to first ...
Martin Heidelman, Dervis Can Vural
wiley   +1 more source

The soul of the soil: Unearthing a Nation's eco‐empathy through 1200 years of Persian poetry

People and Nature, EarlyView.
Abstract Cultivating a profound sense of connection with the natural world, conceptualized as eco‐empathy, is increasingly recognized as a vital precursor to effective environmental stewardship. While scientific data frame ecological crises, literary traditions offer a unique archive for tracing the history of this empathetic bond. This study positions
Isa Esfandiarpour‐Boroujeni, Ali Shahriari, Leila Kordbacheh, Zohreh Mosleh, Reyhaneh Nejadasadi, Hosnieh Shahriari, Fatemeh Aliabbasi, Reza Mohajer   +7 more
wiley   +1 more source