Results 81 to 90 of about 210,167 (295)

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

Generation of three isogenic human induced pluripotent stem cell lines from normal neonate skin fibroblasts

Stem Cell Research
Characterized human induced pluripotent stem cell lines are important for basic research. Here, we report the establishment of three isogenic human induced pluripotent stem cell (hiPSC) lines generated from normal neonate male skin fibroblasts ...
Sanne Sandelin, Sofia Hakala, Laura Lehtinen, Elisa Närvä   +3 more
doaj   +1 more source

Generation of induced pluripotent stem cell line (ZZUi011-A) from urine sample of a normal human

Stem Cell Research, 2018
Urine cells collected from 200 mL clean midsection urine of a 25-year-old healthy man were reprogrammed into pluripotent stem cells via Sendai virus delivery system. The induced pluripotent stem cells showed a normal karyotype and exhibited the potential
Huifang Sun, Fan Zhang, Yanlin Wang, Zhilei Wang, Shoutao Zhang, Yuming Xu, Changhe Shi   +6 more
doaj   +1 more source

Generation and characterization of a human induced pluripotent stem cell line (SDQLCHi052-A) from peripheral blood mononuclear cells derived from a healthy Chinese donor

Stem Cell Research, 2023
A non-integrated induced pluripotent stem cell (iPSC) line was generated derived from a healthy 20-day-old male using peripheral blood mononuclear cells.
Zirui Wan, Jingyun Guan, Yue Li, Haiyan Zhang, Bin Wang, Xiaomeng Yang, Xiaohua Jin, Xu Ma, Yi Liu   +8 more
doaj   +1 more source

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

Co-expression networks in generation of induced pluripotent stem cells. [PDF]

, 2016
We developed an adenoviral vector, in which Yamanaka's four reprogramming factors (RFs) were controlled by individual CMV promoters in a single cassette (Ad-SOcMK). This permitted coordinated expression of RFs (SOX2, OCT3/4, c-MYC and KLF4) in a cell for
Coppola, Giovanni, Dansithong, Warunee, Figueroa, Karla P, Gao, Fuying, Paul, Sharan, Pflieger, Lance, Pulst, Stefan M   +6 more
core   +2 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

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

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

JACC: Basic to Translational Science, 2018
Summary: A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes.
Kai-Chun Yang, MD, Astrid Breitbart, MD, Willem J. De Lange, PhD, Peter Hofsteen, PhD, Akiko Futakuchi-Tsuchida, BS, Joy Xu, MSE, Cody Schopf, BS, Maria V. Razumova, PhD, Alex Jiao, PhD, Robert Boucek, MD, Lil Pabon, PhD, Hans Reinecke, PhD, Deok-Ho Kim, PhD, J. Carter Ralphe, MD, Michael Regnier, PhD, Charles E. Murry, MD, PhD   +15 more
doaj   +1 more source

Induced pluripotent stem cells in dentistry

Journal of Pharmacy and Bioallied Sciences, 2016
Induced pluripotent stem cells (iPSCs), a path-breaking invention, have revolutionized the regenerative medicine field. The biggest advantage of this technology is its patient-specific nature and so it is nonimmunogenic. It involves autologous tissues with limitless source of cells throughout life. The Nobel-winning concept involves the reprograming of
openaire   +3 more sources