Results 81 to 90 of about 216,145 (304)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Embryonic Stem Cell Research as an Ethical Issue: On the Emptiness of Symbolic Value [PDF]

, 2001
The debate over human embryonic stem cell research-scientific and clinical prospects as well as ethical implications-became front-page news only after two teams of university researchers reported in November 1998 that they had isolated and cultured human
Quinn, Kevin P.
core   +2 more sources

An Extended Culture System that Supports Human Primordial Germ Cell-like Cell Survival and Initiation of DNA Methylation Erasure. [PDF]

, 2020
The development of an in vitro system in which human primordial germ cell-like cells (hPGCLCs) are generated from human pluripotent stem cells (hPSCs) has been invaluable to further our understanding of human primordial germ cell (hPGC) specification ...
Bower, Grace, Chialastri, Alex, Clark, Amander T, Dey, Siddharth S, Gell, Joanna J, Hancock, Grace, Liu, Wanlu, Sosa, Enrique, Tao, Yu, Wamaitha, Sissy E   +9 more
core  

Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]

, 2015
The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa, Berto, Alessandro, Desole, Giovanna, Pacenti, Monia, Palu', Giorgio, Sinigaglia, Alessandro, Trevisan, Marta   +6 more
core   +2 more sources

HLA Engineering of Human Pluripotent Stem Cells [PDF]

Molecular Therapy, 2013
The clinical use of human pluripotent stem cells and their derivatives is limited by the rejection of transplanted cells due to differences in their human leukocyte antigen (HLA) genes. This has led to the proposed use of histocompatible, patient-specific stem cells; however, the preparation of many different stem cell lines for clinical use is a ...
Riolobos, Laura, Hirata, Roli K, Turtle, Cameron J, Wang, Pei-Rong, Gornalusse, German G, Zavajlevski, Maja, Riddell, Stanley R, Russell, David W   +7 more
openaire   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Genetic engineering of human ES and iPS cells using TALE nucleases [PDF]

, 2011
Targeted genetic engineering of human pluripotent cells is a prerequisite for exploiting their full potential. Such genetic manipulations can be achieved using site-specific nucleases.
Bryan Zeitler, Christine S Lai, CJ Lengner, D Hockemeyer, D Hockemeyer, D Hockemeyer, Dirk Hockemeyer, Edward J Rebar, F Zhang, FD Urnov, Fyodor D Urnov, Gregory J Cost, Haoyi Wang, J Boch, J Boch, J Zou, JC Miller, Jeffrey C Miller, Jennifer M Cherone, John P Cassady, Lei Zhang, MJ Moscou, Philip D Gregory, Qing Gao, Rudolf Jaenisch, Samira Kiani, Sarah J Hinkley, T Zwaka, Xiangdong Meng, Y Doyon, Yolanda Santiago   +30 more
core   +2 more sources

Calcium signaling in human pluripotent stem cells [PDF]

Cell Calcium, 2016
Human pluripotent stem cells provide new tools for developmental and pharmacological studies as well as for regenerative medicine applications. Calcium homeostasis and ligand-dependent calcium signaling are key components of major cellular responses, including cell proliferation, differentiation or apoptosis.
Apáti, Ágota, Berecz, Tünde, Sarkadi, Balázs   +2 more
openaire   +3 more sources

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

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