Results 111 to 120 of about 396,812 (264)

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

HGG Advances
Summary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion ...
Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain   +15 more
doaj   +1 more source

A PDF Tile Model for Geographic Map Data

ISPRS International Journal of Geo-Information, 2019
Vector tile mapping is an important issue in web map research. At present, vector tile mapping requires the symbolization of geographic information, as supported by cartographic software, and the development of a corresponding symbolic database when web ...
Xiaodong Zhou, Tinghua Ai, Nina Meng, Peng Xie   +3 more
doaj   +1 more source

Alternative splicing and extensive RNA editing of human TPH2 transcripts. [PDF]

, 2010
Brain serotonin (5-HT) neurotransmission plays a key role in the regulation of mood and has been implicated in a variety of neuropsychiatric conditions. Tryptophan hydroxylase (TPH) is the rate-limiting enzyme in the biosynthesis of 5-HT.
Bondy, Brigitta, Bondy, B., Baghai Thomas C., Brigitta Bondy, Peter Zill, Zill, P., Schüle Cornelius, Hammer, P., Grohmann Maik, Büttner, A., Walther Maria, Priller, Josef, Hammer Paul, Baghai, Thomas C., Maik Grohmann, Wolfgang Eisenmenger, Baghai, T., Priller Josef, Josef Priller, Walther, D.J., Eisenmenger, Wolfgang, Bader, Michael, Zill, Peter, Paul Hammer, Hammer, Paul, Rupprecht Rainer, Büttner, Andreas, Michael Bader, Andreas Büttner, Diego J Walther, Cornelius Schüle, Paulmann, Nils, Zill Peter, Bader Michael, Eisenmenger, W., Schüle, Cornelius, Maria Walther, Rainer Rupprecht, Thomas C Baghai, Paulmann Nils, Schuele, C., Walther, Diego J., Rupprecht, R., Nils Paulmann, Baghai, T.C., Eisenmenger Wolfgang, Walther, Maria, Grohmann, M., Bondy Brigitta, Walther Diego J., Bader, M., Priller, J., Paulmann, N., Büttner Andreas, Walther, M., Grohmann, Maik, Rupprecht, Rainer, Schüle, C., Walther, D., Buettner, A.   +59 more
core   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Dynamic Loading Regulates Meniscus‐Like Matrix Production in Human Mesenchymal Stromal Cell‐Seeded PET Scaffolds

Advanced Healthcare Materials, EarlyView.
Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira, Luisa de Roy, Anna‐Lotta Feldmeier, Mubashir Ahmad, Sofia Pilão, Maria Ahrens, Anita Ignatius, Carsten Linti, Andreas Martin Seitz   +8 more
wiley   +1 more source

Assessing the impact of alternative splicing on the diversity and evolution of the proteome in plants [PDF]

, 2011
Splicing is one of the key processing steps during the maturation of a gene’s primary transcript into the mRNA molecule used as a template for protein production.
Severing, E.I.
core  

Liquid‐Crystal‐Based Reconfigurable Intelligent Surface for 7 GHz Mobile Communication

Advanced Materials Technologies, EarlyView.
The glass‐based liquid‐crystal reconfigurable intelligent surface (LC‐RIS) integrates active‐matrix driving and blind‐greedy phase optimization within a 5G‐NR OFDM framework. This enables continuously tunable and autonomous enhancement of wireless coverage. Leveraging the transparency and manufacturability of liquid crystal panels, it is ideally suited
Tien‐Lun Ting, Yuh‐Chyi Chang, Yi‐Chan Hung, Cheng‐Yuan Hsiao, Chao‐Kai Wen, Tsung‐Hsien Lin   +5 more
wiley   +1 more source

On‐Chip Photonic Neural Network Architectures

Advanced Optical Materials, EarlyView.
This review presents a comprehensive overview of on‐chip photonic neural network architectures, covering key photonic building blocks, representative network types, and emerging applications. Recent advances, implementation challenges, and future directions are examined, highlighting the potential of integrated photonics to enable ultrafast, energy ...
Seokjin Hong, Berkay Neseli, Seungyeon Cho, Seungsoo Lee, Yeonjun Kim, Seungyoon Choi, Hyo‐Hoon Park, Hamza Kurt   +7 more
wiley   +1 more source

MOESM5 of Giant group I intron in a mitochondrial genome is removed by RNA back-splicing

, 2019
Additional file 5: Table S2.
Sylvia Chi (6789341), Mikael Dahl (6680630), Steinar Johansen (9033), Åse Emblem (5424440)   +3 more
core   +1 more source