Results 231 to 240 of about 1,139,848 (301)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Nanosized silver phosphate-based asymmetric and symmetric electrochemical capacitors for first- and second-order low-pass filter applications. [PDF]

Nanoscale Adv
Hazarika MR, Kumari P, Saha C, Lai L, Singh H, Huttula M, Mallick K.   +6 more
europepmc   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Roadmap of Flexible Electrodes for Next-Generation Wearable Electronics. [PDF]

Energy Fuels
Manoharan K, Pumera M.
europepmc   +1 more source

Lysyl Oxidase Reduces Neutrophil Extravasation in Response to P. aeruginosa in an Infection‐on‐a‐Chip Model

Advanced NanoBiomed Research, EarlyView.
Lysyl oxidase crosslinking of type I collagen decreases neutrophil extravasation through an endothelium during the initial response to P. aeruginosa. This decrease in extravasation is likely due to the increase in VE‐cadherin expression between endothelial cells seeded on LOX‐crosslinked collagen hydrogels.
Christopher J. Calo, Tanvi Patil, Josephine Fouts, Eric L. Ginter, Margaret Radke, Hannah K. Weppner, Justin M. Owens, Laurel E. Hind   +7 more
wiley   +1 more source

The diagnosis comes before therapy, even with non-motor features. [PDF]

Ther Adv Neurol Disord
Jost WH, LeWitt PA.
europepmc   +1 more source

Flame‐Retardant Quasi‐Solid‐State Electrolytes From Self‐Assembled Azolate Hybrid Frameworks for Highly Safe Lithium Batteries

Angewandte Chemie, EarlyView.
This work develops a spray‐assisted in situ assembly technique to construct AHF materials with nitrogen/oxygen‐regulated one‐dimensional channels on glass fiber, providing abundant active sites and enabling rapid transport for lithium ions. Subsequently, phosphate flame retardants are encapsulated via in situ polymerization, resulting in a thermally ...
Shun Wang, Qimin Zhu, Yuanyuan Tian, Peiyu Cui, Qing Ji, Tian Xie, Hong Wang, Dong Zhou, Guoxiu Wang, Wenhuan Huang   +9 more
wiley   +1 more source

Entrained cortical delta-spindle activity, not periodic synchrony, prevents arousal by NREM thalamic bursts. [PDF]

Commun Biol
Liu X, Guang J, Israel Z, Wajnsztajn D, Raz A, Bergman H.   +5 more
europepmc   +1 more source

Facet‐Dependent Water Inhibition of Alkanol Dehydration on TiO2 via Distinct Water–Alkanol Complexes

Angewandte Chemie, EarlyView.
Water inhibits alkanol dehydration on TiO2 through facet‐dependent manners via distinct IPA‐water complexes. On TiO2(001), water forms a strongly hydrogen‐bonded isopropoxide–H2O complex that readily dominates the surface and substantially elevates the activation barrier, whereas on TiO2(101), water weakly hydrogen‐bonds to molecular IPA, resulting in ...
Wenda Hu, Haiting Cai, Anthony Savoy, Jinshu Tian, Sungmin Kim, Fan Lin, Junrui Li, Hao Xu, Yiqing Wu, Zihao Zhang, Nicholas Jaegers, Huamin Wang, Feng Gao, Jianzhi Hu, Yong Wang   +14 more
wiley   +1 more source