Results 131 to 140 of about 155,803 (258)

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Frontiers in Genetics
Thanks to a long-read sequencing (LRS) approach, in this study, we have reported a molecularly solved case of a proband with a clinical diagnosis of Cornelia de Lange syndrome (CDLS), which is a multisystemic disorder whose causative molecular defects ...
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli   +11 more
doaj   +1 more source

Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes [PDF]

, 2019
Elise M. Bekers, Astrid Eijkelenboom, Paul Rombout, Peter van Zwam, Suzanne Mol, Emiel Ruijter, Blanca Scheijen, Uta Flucke   +7 more
openalex   +1 more source

Ultrafast Room‐Temperature Nanofabrication via Ozone‐Based Gas‐Phase Metal‐Assisted Chemical Etching for High‐Performance Silicon Photodetectors

Advanced Functional Materials, EarlyView.
Ozone‐based gas‐phase metal‐assisted chemical etching enables unprecedented room‐temperature fabrication of high‐quality silicon nanowires. The superior oxidation potential of O3 drives rapid vertical etching (1 µm min−1) while maintaining exceptional structural integrity. The pristine nanowire surfaces enable high‐performance core‐shell photodetectors
Hyein Cho, Yejin Han, Geonhwi Kim, Jihwan Jeong, Seongmin Lee, Yebin Ahn, Sang Beom Hong, Soohyeok Park, Inkyeong Park, So Eun Jang, Duck Hyun Youn, Han‐Don Um   +11 more
wiley   +1 more source

Peroxisome proliferator-activated receptor α as a novel therapeutic target for schizophrenia

EBioMedicine, 2020
Background: The pathophysiology of schizophrenia, a major psychiatric disorder, remains elusive. In this study, the role of peroxisome proliferator-activated receptor (PPAR)/retinoid X receptor (RXR) families, belonging to the ligand-activated nuclear ...
Yuina Wada, Motoko Maekawa, Tetsuo Ohnishi, Shabeesh Balan, Shigeru Matsuoka, Kazuya Iwamoto, Yoshimi Iwayama, Hisako Ohba, Akiko Watanabe, Yasuko Hisano, Yayoi Nozaki, Tomoko Toyota, Tomomi Shimogori, Masanari Itokawa, Tetsuyuki Kobayashi, Takeo Yoshikawa   +15 more
doaj  

Ultrafast Energy Transfer Induced Lasing From a Coplanar Donor‐Acceptor‐Donor Molecule in a Microspherical Cavity

Advanced Functional Materials, EarlyView.
This study presents a novel donor‐bridge‐acceptor‐bridge‐donor (D‐B‐A‐B‐D) molecular system, which shows near‐unity intramolecular excitation energy transfer (IET) from two identical energy donors to a coplanar acceptor. It enables a four‐level energy system for efficient lasing at the acceptor emission band in a microspherical cavity with a low lasing
Vishal Kumar, Soh Kushida, Takeru Inoue, Keisuke Iwata, Hiroshi Yamagishi, Hayato Tsuji, Yohei Yamamoto   +6 more
wiley   +1 more source

PhenoMIP: High Throughput Phenotyping of Diverse C. elegans Populations via Molecular Inversion Probes [PDF]

, 2019
Calvin Mok, Gabriella Belmarez, Mark L. Edgley, Donald G. Moerman, R Waterston   +4 more
openalex   +1 more source

Machine Learning‐Enabled Polymer Discovery for Enhanced Pulmonary siRNA Delivery

Advanced Functional Materials, EarlyView.
This study provides an efficient approach to train a machine learning model by merging heterogeneous literature data to predict suitable polymers for siRNA delivery. Without the need for extensive laboratory synthesis, the machine learning enabled a virtual screening and successfully predicted a polymer that is validated for effective gene silencing in
Felix Sieber‐Schäfer, Min Jiang, Adrian Kromer, Anny Nguyen, Müge Molbay, Simone Pinto Carneiro, David Jürgens, Gerald Burgstaller, Bastian Popper, Benjamin Winkeljann, Olivia Monika Merkel   +10 more
wiley   +1 more source

Engineering a Single Amino Acid Bionanozyme for Ultrasensitive Detection of Biomarkers: A WHO‐REASSURE‐ Aligned Approach

Advanced Functional Materials, EarlyView.
A unique 2D bionanozyme, engineered from a single amino acid and copper ions, demonstrates peroxidase‐mimicking catalytic activity. This efficient and simple bionanozyme allows for ultrasensitive, equipment‐free visual detection of key biomarkers in both test and real samples, meeting the WHO‐REASSURE standards for practical diagnostic applications ...
Subrat Vishwakarma, Om Shanker Tiwari, Vijay Kumar Patel, Ruchi Shukla, Ehud Gazit, Pandeeswar Makam   +5 more
wiley   +1 more source

Expansion of artemisinin partial resistance mutations and lack of histidine rich protein-2 and -3 deletions in Plasmodium falciparum infections from Rukara, Rwanda

Malaria Journal
Background Emerging artemisinin partial resistance and diagnostic resistance are a threat to malaria control in Africa. Plasmodium falciparum kelch13 (k13) propeller-domain mutations that confer artemisinin partial resistance have emerged in Africa.
Cecile Schreidah, David Giesbrecht, Pierre Gashema, Neeva Wernsman Young, Tharcisse Munyaneza, Claude Mambo Muvunyi, Kyaw Thwai, Jean-Baptiste Mazarati, Jeffrey A. Bailey, Jonathan J. Juliano, Corine Karema   +10 more
doaj   +1 more source

Understanding and Addressing the Performance Asymmetry Issue in Semitransparent Laminated Organic Photovoltaic Devices

Advanced Functional Materials, EarlyView.
This work addresses the challenge of current–voltage asymmetry in scalable laminated semitransparent organic photovoltaics (OPVs) for indoor applications. Vertical stratification of materials is shown to create an energy barrier, leading to performance differences under different illumination directions.
Gulzada Beket, Anton Zubayer, Leonie Pap, Huagui Lai, Samiran Bairagi, Nakul Jain, Jochen Stahn, Fan Fu, Kenneth Järrendahl, Fredrik Eriksson, Xabier Rodríguez‐Martínez, Olle Inganäs, Uli Würfel, Thomas Österberg, Jonas Bergqvist, Feng Gao   +15 more
wiley   +1 more source