Results 121 to 130 of about 595,112 (241)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter, Richard Hastings, Nicola Enoch, Samantha Flynn, Matthew Randell, Chris Stinton   +5 more
wiley   +1 more source

Oblique diffraction geometry for the observation of several non-coplanar Bragg reflections under identical illumination. [PDF]

J Appl Crystallogr
Detlefs C, Henningsson A, Kanesalingam B, Cretton AAW, Corley-Wiciak C, Frankus FT, Pal D, Irvine S, Borgi S, Poulsen HF, Yildirim C, Dresselhaus-Marais LE.   +11 more
europepmc   +1 more source

Long noncoding RNA GCH1 mediates mitophagy via the PTEN‐induced kinase 1/Parkin pathway to drive chondrocyte dysfunction and cartilage degeneration in osteoarthritis

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract illustrates the role of lncRNA‐GCH1 in regulating mitophagy and its downstream effects on chondrocyte dysfunction and cartilage degradation in osteoarthritis (OA). Elevated lncRNA‐GCH1 stabilizes PINK1 protein, enhancing mitophagy and mitochondrial turnover.
Gang Zeng, Yujun Sun, Taihe Liu, Wenzhou Liu, Yanbo Chen, Jionglin Wu, Jiayuan Zheng, Weidong Song, Yue Ding   +8 more
wiley   +1 more source

Multi-mode geometrically gated encryption with 4D morphing hydrogel. [PDF]

Nat Commun
Wen X, Zhang K, Wu B, Chen G, Zheng N, Wu J, Yang X, Xie T, Zhao Q.   +8 more
europepmc   +1 more source

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source

Ultralow energy adaptive neuromorphic computing using reconfigurable zinc phosphorus trisulfide memristors. [PDF]

Nat Commun
Ji Y, Wang L, Long Y, Wang J, Zheng H, Yu ZG, Zhang YW, Ang KW.   +7 more
europepmc   +1 more source

Reshaping Protein‐Based Nanoparticles: Innovative Artificial Intelligence‐Driven Strategies for Structural Design and Applications

Advanced NanoBiomed Research, EarlyView.
Artificial Intelligence‐driven advancements in protein‐based nanoparticle design enable exceptional functionalities, overcoming traditional challenges and expanding nanomedicine applications. Nanoparticles (NPs) have become a pivotal technology in biomedical research due to their unique physicochemical properties and nanoscale size, allowing for ...
Mohammad Mahmoudi Gomari, Mehdi Alidadi, Neda Rostami, Sidi A. Bencherif   +3 more
wiley   +1 more source

Moldina: a fast and accurate search algorithm for simultaneous docking of multiple ligands. [PDF]

J Cheminform
Halfar R, Damborský J, Marques SM, Martinovič J.   +3 more
europepmc   +1 more source

Research on Simulation and Generation Technology of Optical Signal of High‐Speed Projectile Passing through Target Based on Acousto‐Optic Modulation

Advanced Physics Research, EarlyView.
In order to conveniently test the accuracy of the optoelectronic velocity measuring system. This paper proposes a method for simulating the generation of the optical signals for projectile passing through the target by the acoustooptic modulation technology.
Wenbo Chu, Pengfei Wang, Bin Zhan, Yuan Li, Zeng Xie, Cheng Fang, Donge Zhao   +6 more
wiley   +1 more source