Results 61 to 70 of about 123,070 (267)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Current Progress and Challenges for Skeletal Muscle Differentiation from Human Pluripotent Stem Cells Using Transgene-Free Approaches

Stem Cells International, 2018
Neuromuscular diseases are caused by functional defects of skeletal muscles, directly via muscle pathology or indirectly via disruption of the nervous system.
Nunnapas Jiwlawat, Eileen Lynch, Jeremy Jeffrey, Jonathan M. Van Dyke, Masatoshi Suzuki   +4 more
doaj   +1 more source

Variability of human pluripotent stem cell lines [PDF]

Current Opinion in Genetics & Development, 2017
Human pluripotent stem cells derived from embryos (human Embryonic Stem Cells or hESCs) or generated by direct reprogramming of somatic cells (human Induced Pluripotent Stem Cells or hiPSCs) can proliferate almost indefinitely in vitro while maintaining the capacity to differentiate into a broad diversity of cell types.
Ortmann, Daniel, Vallier, Ludovic
openaire   +3 more sources

Requirements for human‐induced pluripotent stem cells

Cell Proliferation, 2022
Abstract‘Requirements for Human‐Induced Pluripotent Stem Cells’ is the first set of guidelines on human‐induced pluripotent stem cells in China, jointly drafted and agreed upon by experts from the Chinese Society for Stem Cell Research. This standard specifies the technical requirements, test methods, and instructions for use, labeling, packaging ...
Ying Zhang, Jun Wei, Jiani Cao, Kehua Zhang, Yaojin Peng, Hongkui Deng, Jiuhong Kang, Guangjin Pan, Yong Zhang, Boqiang Fu, Shijun Hu, Jie Na, Yan Liu, Lei Wang, Lingmin Liang, Huanxin Zhu, Yu Zhang, Zi‐Bing Jin, Jie Hao, Aijin Ma, Tongbiao Zhao, Junying Yu   +21 more
openaire   +2 more sources

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

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

Iron overload inhibits self‐renewal of human pluripotent stem cells via DNA damage and generation of reactive oxygen species

FEBS Open Bio, 2020
Iron overload affects the cell cycle of various cell types, but the effect of iron overload on human pluripotent stem cells has not yet been reported. Here, we show that the proliferation capacities of human embryonic stem cells (hESCs) and human induced
Zhenbo Han, Zihang Xu, Lei Chen, Danyu Ye, Yang Yu, Ying Zhang, Yang Cao, Bamba Djibril, Xiaofei Guo, Xinlu Gao, Wenwen Zhang, Meixi Yu, Shenzhen Liu, Gege Yan, Mengyu Jin, Qi Huang, Xiuxiu Wang, Bingjie Hua, Chao Feng, Fan Yang, Wenya Ma, Yu Liu   +21 more
doaj   +1 more source

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

Advanced Functional Materials, EarlyView.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo, Mi Jeong Lee, Hyun Wook Kang, Seonhee Byeon, Soo‐Kyoung Choi, Nakwon Choi, Seung‐Woo Cho, Yoonhee Jin   +7 more
wiley   +1 more source

Nanofiber‐Supported Decellularized Matrix Membrane Creates a Biomimetic Biochemical and Biophysical Niche for Intestinal Organoid Epithelium

Advanced Healthcare Materials, EarlyView.
A nanofiber‐supported decellularized extracellular matrix (NaDE) membrane recreates key biochemical and mechanical features of native intestinal tissue. This platform enables the formation of a more physiologically relevant intestinal epithelium, enhancing stem cell maintenance and promoting diverse cell differentiation.
Jaeseung Youn, Hyeonji Kim, Nam Than, Juhyeok Kim, Jangwon Yoon, Dohui Kim, Hyun Jung Kim, Dong Sung Kim   +7 more
wiley   +1 more source

A village in a dish model system for population-scale hiPSC studies

Nature Communications, 2023
The mechanisms by which DNA alleles contribute to disease risk, drug response, and other human phenotypes are highly context-specific, varying across cell types and different conditions.
Drew R. Neavin, Angela M. Steinmann, Nona Farbehi, Han Sheng Chiu, Maciej S. Daniszewski, Himanshi Arora, Yasmin Bermudez, Cátia Moutinho, Chia-Ling Chan, Monique Bax, Mubarika Tyebally, Vikkitharan Gnanasambandapillai, Chuan E. Lam, Uyen Nguyen, Damián Hernández, Grace E. Lidgerwood, Robert M. Graham, Alex W. Hewitt, Alice Pébay, Nathan J. Palpant, Joseph E. Powell   +20 more
doaj   +1 more source