Results 41 to 50 of about 145 (101)

GeneToList: A Web Application to Assist with Gene Identifiers for the Non-Bioinformatics-Savvy Scientist

Biology, 2022
The increasing incorporation of omics technologies into biomedical research and translational medicine presents challenges to end users of the large and complex datasets that are generated by these methods.
Joshua D. Breidenbach, E. Francis Begue III, David J. Kennedy, Steven T. Haller   +3 more
doaj   +1 more source

Targeting the noncatalytic activity of GSK3β modulates neuronal excitability in medium spiny neurons via Nav1.6 interactions

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Kinases phosphorylate ion channels, but their noncatalytic roles via protein–protein interactions (PPI) are less understood. Here, we identified the peptidomimetic ZL141 to characterize the PPI between GSK3β and Nav1.6, revealing a noncatalytic role for GSK3β in regulating Nav1.6 currents and neuronal excitability ...
Aditya K. Singh, Zahra Haghighijoo, Akanksha Gurtu, Nolan M. Dvorak, Timothy J. Baumgartner, Nana A. Goode, Jully Singh, Matteo Bernabucci, Adam T. Szafran, Michael J. Bolt, Michael A. Mancini, Natalie M. Dvorak, Marijn Lijffijt, Zhiqing Liu, Yu Xue, Alyssa K. Thomas, Alejandro Villasante‐Tezanos, Balaji Krishnan, Jia Zhou, Fernanda Laezza   +19 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open
Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction.
Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin, Lori L. Bonnycastle, Wai-Man Chan, Tingfen Yan, Silvio Alessandro Di Gioia, Amy J. Swift, Sarah E. MacKinnon, Darren T. Oystreck, Janet C. Rucker, Tamiesha Frempong, Mary C. Whitman, Edmond J. FitzGibbon, Janice S. Lee, Ke Hao, Caroline Andrews, Monica Erazo, Flavia M. Facio, Sherin Shaaban, Thomas P. Naidich, Peter S. Chines, Tanya J. Lehky, Camilo Toro, Andrea L. Gropman, John A. Butman, Christopher K. Zalewski, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Scott M. Paul, Brian P. Brooks, Carlo Pierpaoli, Caroline D. Robson, David G. Hunter, Francis S. Collins, Ethylin Wang Jabs, Elizabeth C. Engle, Irini Manoli   +41 more
doaj   +1 more source

Last rolls of the yoyo: Assessing the human canonical protein count [version 1; referees: 1 approved, 2 approved with reservations]

F1000Research, 2017
In 2004, when the protein estimate from the finished human genome was only 24,000, the surprise was compounded as reviewed estimates fell to 19,000 by 2014. However, variability in the total canonical protein counts (i.e.
Christopher Southan
doaj   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Expanding the Fish‐Brain Invitrome With the Senegalese Sole SsB‐1 Cell Line—A Versatile Model for Neurotropic Virus Research

Journal of Fish Diseases, EarlyView.
ABSTRACT Cell lines are essential tools for studying animal physiology and immunopathology, reducing the use of live animals and supporting the 3Rs principle of reduction, refinement, and replacement. The Senegalese sole (Solea senegalensis), a relevant species for Spanish aquaculture diversification, lacks established in vitro models. We developed SsB‐
Yulema Valero, Alberto Cuesta
wiley   +1 more source

Physiological and anatomical determinants of placental drug transfer

The Journal of Physiology, EarlyView.
Abstract figure legend Fetal exposure to pharmaceuticals and their subsequent clearance back to the maternal circulation are governed by placental transfer. Passive diffusion down a maternal‐to‐fetal concentration gradient is the primary route of fetal drug exposure, with specific compounds undergoing transporter‐mediated transfer.
Rohan M. Lewis, Anandita Umapathy, Jane K. Cleal, Bram G. Sengers   +3 more
wiley   +1 more source

Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer

Genetics in Medicine Open
Purpose: To understand the broader genetic landscape of male breast cancer (MBC), focusing on the utility of genome sequencing (GS) beyond BRCA1/2 (HGNC: 1100, 1101) variants. Methods: Twenty-four patients with MBC underwent a multistep genetic analysis.
Wen Wen, Sen Zhao, Yiwen Jiang, Chengzhu Ou, Changyuan Guo, Ziqi Jia, Jiayi Li, Yansong Huang, Hengyi Xu, Pengming Pu, Tongxuan Shang, Lin Cong, Xiang Wang, Nan Wu, Jiaqi Liu   +14 more
doaj   +1 more source

Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures

Journal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.
Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
wiley   +1 more source