Results 51 to 60 of about 12,984 (193)

Mutations at the Intron 9 Donor Splice Site in hERG Lead to Cryptic Splicing in LQT2 [PDF]

Biophysical Journal, 2010
Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene (hERG). More than 30% of LQT2 mutations are nonsense, frameshift, or splice site mutations that may affect mRNA stability and splicing. To date, relatively few studies have focused on the pathogenesis of hERG splice site mutations.
Stump, Matthew R., Gong, Qiuming, Zhou, Zhengfeng   +2 more
openaire   +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

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

Molecular Therapy: Nucleic Acids, 2017
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the
Erik van der Wal, Atze J. Bergsma, Tom J.M. van Gestel, Stijn L.M. in ‘t Groen, Holm Zaehres, Marcos J. Araúzo-Bravo, Hans R. Schöler, Ans T. van der Ploeg, W.W.M. Pim Pijnappel   +8 more
doaj   +1 more source

Fine‐Tuned Regulation of mRNA Translation and Transport by STAU2 Condensate Facilitates Neuronal Development and Plasticity

Advanced Science, EarlyView.
STAU2 undergoes phase separation to form dynamic condensates that package target mRNAs and deliver them to the distal ends of growing neuronal dendrites. STAU2 condensates stabilize embedded mRNAs and repress their translation. Synaptic activity bidirectionally remodels STAU2 condensates, coordinating local translation of STAU2‐associated mRNAs ...
Shijing Huang, Yuanyuan Chu, Ruiqian Zhao, Siyu Li, Yu Feng, Hongdan Zheng, Yunli Xie, Tong Wang, Wenyu Wen   +8 more
wiley   +1 more source

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. [PDF]

PLoS ONE, 2013
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is considered
Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano   +15 more
doaj   +1 more source

NAD+ Metabolism Licenses Zygotic Genome Activation via PARP7‐Mediated ADP‐Ribosylation of UHRF1 in Mouse Early Embryos

Advanced Science, EarlyView.
This study uncovers a metabolic‐epigenetic axis licensing zygotic genome activation (ZGA) in mouse embryos. A developmental decline in NAD+ levels activates PARP7, which mono‐ADP‐ribosylates and stabilizes UHRF1. This modification promotes the establishment of permissive histone acetylation marks, thereby facilitating timely ZGA.
Guangyi Cao, Ziqi Zhang, Anqi Chen, Yanbo Liu, Yuling Lin, Lina Yu, Ruixin Shi, Aolei Guo, Yan Mao, Ganggui Lou, Chaojun Li, Luhong Wen, Guijun Yan, Haixiang Sun   +13 more
wiley   +1 more source

Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site inKRT9 [PDF]

Clinical and Experimental Dermatology, 2013
Epidermolytic palmoplantar keratoderma (EPPK) is caused by mutations in KRT9 and less often, KRT1. All known mutations in KRT9 have been found in regions of the gene encoding the conserved central α-helix rod domain. In the present study, we investigated the molecular basis of EPPK in a patient of Ashkenazi Jewish origin. The patient was found to carry
D, Fuchs-Telem, G, Padalon-Brauch, O, Sarig, E, Sprecher   +3 more
openaire   +2 more sources

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

Single‐cell atlas of neuroglial dynamics in SNCA‐A53T Parkinson's disease mouse model

Animal Models and Experimental Medicine, EarlyView.
We performed single‐cell RNA sequencing of midbrain and striatal tissues from SNCA‐A53T Parkinson's disease (PD) mice, revealing glia‐enriched PD‐risk gene signatures and disease‐specific subpopulations. Transcriptional dysregulation of key TFs (e.g., Rorb, Foxc1) and enhanced neuroinflammatory signaling (SEMA, CCL, MIF) were identified.
Binqing Qin, Zichu Fu, Xuanxuan Zou, Senmao Chai, Jingjing Weng, Puqing Wang, Xiaodong Sun, Ming Sang   +7 more
wiley   +1 more source