Results 51 to 60 of about 2,902,010 (219)

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

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

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

A Hybrid Bioprinting–Microfabrication Approach to Controllable Multitype Spheroid Arrays for Modeling Tumor Heterogeneity

Advanced Healthcare Materials, EarlyView.
This work introduces a “cancer‐in‐a‐well” technology that recreates tumor heterogeneity in vitro using multitype spheroid arrays. Combining bioprinting/microdispensing with microstructured culture devices, the system improves drug screening and modeling of tumor complexity.
Simone Bonetti, Eva Clemente, Emanuela Mensà, Marco de Maria, Fulvia Farabegoli, Emanuela Saracino, Barbara Bortolani, Emanuela Marcelli, Renato Brandimarti, Dario de Biase, Giampaolo Zuccheri   +10 more
wiley   +1 more source

Intronic variant effect (+182 b).

, 2023
(A) Mutants with downstream deletion to the intronic swap variant; tu1445, tu1446, tu1444 display weaker mouth-form change than the mutant with the targeted swap; tu1444. Both tu1447 and tu1444 harbor the same 4-bp deletion. For detailed information, see
Hanh Witte (273924), Gabi Eberhard (16846465), Mohannad Dardiry (16846462), Ralf J. Sommer (132327), Christian Rödelsperger (254006), James W. Lightfoot (7412795)   +5 more
core   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

UCtracker: A Deep Learning–Based DNA Methylation Model for Noninvasive Diagnosis and Recurrence Surveillance of Urothelial Carcinoma in a Prospective Study

Advanced Science, EarlyView.
We developed UCtracker, a urine DNA methylation–based deep learning model, for noninvasive diagnosis and postoperative surveillance of urothelial carcinoma. UCtracker demonstrates high diagnostic accuracy, robustness at ultralow sequencing depth, early recurrence detection, and dynamic risk‐stratified monitoring of molecular residual disease ...
Shengwei Xiong, Gaojie Li, Yucai Wu, Yuan Liang, Heng Guo, Yu Zhang, Gengyan Xiong, Long Tian, Xin Zhang, Ye Tian, Zhengguo Ji, Bin Guo, Yue Shi, Jian Fan, Zhihua Li, Yanqing Gong, Shiming He, Xuesong Li, Weimin Ci, Liqun Zhou   +19 more
wiley   +1 more source

Deltacoronavirus Modulates circRNA cGLIS3 Metabolism to Evade Host Antiviral Response

Advanced Science, EarlyView.
This study reveals that both deltacoronavirus nucleocapsid protein and host RNA binding protein IGF2BP2 promote circular RNA GLIS3 (cGLIS3) biogenesis by binding to GLIS3 pre‐mRNA. The m6A modification‐mediated cGLIS3‐IGF2BP2 interaction weakens RNase L‐mediated degradation of cGLIS3 while facilitates a ubiquitin‐dependent degradation of IGF2BP2, thus ...
Liuyang Du, Liping Wang, Sujing Diao, Juan Li, Lei Zhao, Yan Yan, Haimin Li, Weiren Dong, Wei Wu, Jinyan Gu, Jiyong Zhou   +10 more
wiley   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

Advanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song, Peilin Han, Jiaming Li, Xiaolong Li, Xiang Zhang, Jing Fan, Dongliang Liu, Jianfa Cai, Lingchao Zhang, Jun Wu   +9 more
wiley   +1 more source