Results 111 to 120 of about 20,553 (236)

Unnatural Amino Acid‐Based Ionic Liquid Enables Oral Treatment of Nonsense Mutation Disease in Mice

Advanced Science
This investigation addresses the challenge of suboptimal unnatural amino acid (UAA) utilization in the site‐specific suppression of nonsense mutations through genetic code expansion, which is crucial for protein restoration and precise property tailoring.
Yujie Shi, Ningning Shi, Yuelin Yang, Zhetao Zheng, Qing Xia   +4 more
doaj   +1 more source

Manufacturing Nostalgia in the Digital Age: A Foreverism Perspective

Psychology &Marketing, EarlyView.
ABSTRACT Many scholars argue that we are experiencing the era of “retro”—nostalgia‐driven marketing and consumption phenomena reinforced by digital technologies. However, existing research lacks a critical analysis of nostalgia in contemporary markets and of how digital content, tools, and environments transform retro consumption experiences and alter ...
Dinara Davlembayeva, Davit Marikyan, Jonatan Sodergren, Savvas Papagiannidis, Simos Chari   +4 more
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

Virological characteristics of the SARS-CoV-2 Omicron XBB.1.5 variant

Nature Communications
Circulation of SARS-CoV-2 Omicron XBB has resulted in the emergence of XBB.1.5, a new Variant of Interest. Our phylogenetic analysis suggests that XBB.1.5 evolved from XBB.1 by acquiring the S486P spike (S) mutation, subsequent to the acquisition of a ...
Tomokazu Tamura, Takashi Irie, Sayaka Deguchi, Hisano Yajima, Masumi Tsuda, Hesham Nasser, Keita Mizuma, Arnon Plianchaisuk, Saori Suzuki, Keiya Uriu, Mst Monira Begum, Ryo Shimizu, Michael Jonathan, Rigel Suzuki, Takashi Kondo, Hayato Ito, Akifumi Kamiyama, Kumiko Yoshimatsu, Maya Shofa, Rina Hashimoto, Yuki Anraku, Kanako Terakado Kimura, Shunsuke Kita, Jiei Sasaki, Kaori Sasaki-Tabata, Katsumi Maenaka, Naganori Nao, Lei Wang, Yoshitaka Oda, The Genotype to Phenotype Japan (G2P-Japan) Consortium, Terumasa Ikeda, Akatsuki Saito, Keita Matsuno, Jumpei Ito, Shinya Tanaka, Kei Sato, Takao Hashiguchi, Kazuo Takayama, Takasuke Fukuhara   +38 more
doaj   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source

A case report of primary bilateral macronodular adrenal hyperplasia caused by a novel ARMC5 gene variant

Frontiers in Medicine
Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH), also known as adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, is a rare cause of endogenous Cushing’s syndrome (CS) in clinical practice. The pathogenesis
Yu Tang, Yu Tang, Dongxue Li, Dongxue Li, Juan Xia, Yuan Zhong, Zixia Ni, Liwei Tong   +7 more
doaj   +1 more source

TP53 mutations orchestrate partial EMT states in oral squamous cell carcinoma: spatially resolved and in vitro preliminary insights into tumour plasticity

The Journal of Pathology, EarlyView.
Abstract TP53 is the most frequently mutated gene in oral squamous cell carcinoma (OSCC); however, its role in promoting epithelial–mesenchymal transition (EMT) and tumour progression remains unclear, particularly within the context of intra‐tumour heterogeneity.
Rana Alaaeldin Ibrahim, Hong Wan, Raju Kumar, Muy‐Teck Teh, Angray Kang, Emma Bailey, Hannah Cottom, Adrian Biddle, Inês Sequeira, Farida Fortune   +9 more
wiley   +1 more source

In‐frame variants in TP53 gene identified in adult leukemia samples are predominantly deleterious: a study of the TP53 Network of Education and Research Initiative on CLL

The Journal of Pathology, EarlyView.
Abstract The prognostic and predictive impact of TP53 variants in leukemia led to their inclusion in diagnostic and treatment guidelines, increasing the demand for rapid, reliable laboratory analysis, interpretation, and reporting. While most TP53 variants identified in tumor samples can be interpreted using data from large‐scale functional studies ...
Šárka Pavlová, Johana Gombíková, Silvia Petrezsélyová, Libor Macůrek, Marcela Ženatová, Marie Zádrapová, Anna Panovská, Eva Zapletalová, Blanca Ferrer Lores, Alicia Serrano Alcalá, Eugen Tausch, Stephan Stilgenbauer, Fanny Baran‐Marszak, Gregory Lazarian, Miguel Alcoceba, Ana Balanzategui, Lisa Bonello, Ivana Ježíšková, Martina Sopkovičová, Silvia Zibellini, Marzia Varettoni, Audrey Bidet, Helena Podgornik, Sandra Šućurović, Riccardo Moia, Mónica López‐Guerra, Mark Catherwood, Šárka Pospíšilová, Jitka Malčíková   +28 more
wiley   +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