Results 91 to 100 of about 4,164,069 (213)

Splicing-derived epitopes and splicing-affected self-epitopes in SCLC patients.

, 2021
(A) Upper panel: Number of intron retentions per SCLC sample that impact the open reading frame. Lower panel: Number of candidate MHC-I binders per sample that are created (blue), i.e., splicing-derived neoepitopes, or potentially removed from the ORF by
Judith Pérez-Granado (11442479), Juan L. Trincado (11442473), Ferran Sanz (89706), Marina Reixachs-Solé (11442476), Tim Fugmann (11442482), Eduardo Eyras (3024), Jun Yokota (133873)   +6 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Specific CLK inhibitors from a novel chemotype for regulation of alternative splicing. [PDF]

, 2011
There is a growing recognition of the importance of protein kinases in the control of alternative splicing. To define the underlying regulatory mechanisms, highly selective inhibitors are needed.
Ursula Rauch, Jensen, Lars J, Jensen, Lars J., Bullock, AN, Szklarczyk, Damian, Doriano Fabbro, Filippakopoulos, P, Bracher, Franz, Stefan Knapp, Panagis Filippakopoulos, Oliver King, Bracher, F, Filippakopoulos, Panagis, Fedorov, Oleg, Szklarczyk, D, Oleg Fedorov, Huber, K, King, O, Bullock, Alex N., King, Oliver, Jensen, LJ, Knapp, Stefan, Andreas Eisenreich, Eisenreich, Andreas, Damian Szklarczyk, Huber, Kilian, Fabbro, Doriano, Fabbro, D, Kilian Huber, Knapp, S, Lars J. Jensen, Trappe, Jörg, Alex N. Bullock, Rauch, U, Jörg Trappe, Fedorov, O, Franz Bracher, Rauch, Ursula, Trappe, J, Eisenreich, A, Bullock, Alex N, Bullock, Alexander   +41 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor [PDF]

, 2002
The human IGF-I gene has six exons, four of which are alternatively spliced. Variations in splicing involving exon 5 may occur, depending on the tissue type and hormonal environment.
Ross, R. J. M., Spurrell, E. L., Coakley, J., Krainer, A. R., Hinds, C. J., Smith, P. J., Chew, S. L.   +6 more
core   +1 more source

lmurba/splicing-pipelines-nf: v2.1

, 2022
Repository for the Anczukow-Lab splicing ...
PhilPalmer, Christina Chatzipantsiou, Vlad-Dembrovskyi, Brittany Angarola, Pablo Prieto, lmurba, Sangram K Sahu   +6 more
core   +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