Results 201 to 210 of about 116,955 (355)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Sex as a biological variable in nonclinical studies: Bridging scientific rigor, animal welfare, and regulatory expectations

Animal Models and Experimental Medicine, EarlyView.
Sex as a biological variable (SABV) is a critical determinant of pharmacokinetics, pharmacodynamics, and toxicity in nonclinical studies. This review highlights how inappropriate neglect of sex differences compromises animal welfare, scientific reproducibility, and regulatory compliance.
Kenta Onuma, Masaki Watanabe, Nobuya Sasaki   +2 more
wiley   +1 more source

Modulation of Iron-Induced Glucose Metabolic Reprogramming Alleviates Retinal Pigment Epithelial Cell Senescence. [PDF]

Invest Ophthalmol Vis Sci
Zhao Z, Ou Q, Zhu J, He Z, Yang Y, Jiang J, Wang Q, Zhou Y, Liu Y, Zhu X, Cui T, Liu Y, Xu J, Gao F, Jin C, Wang J, Lu L, Bi Y, Xu GT, Xu JY, Tian H.   +20 more
europepmc   +1 more source

Cell therapy for spinal cord injury by using human iPSC-derived region-specific neural progenitor cells (要旨)

, 2020
慶太 梶川
openalex   +1 more source

IPSCs-based Modelling of Neurological Diseases and Drug Development

, 2019
Hideyuki Okano
openalex   +2 more sources

Identification of bioactive metabolites in human iPSC-derived dopaminergic neurons with PARK2 mutation: altered mitochondrial and energy metabolism [PDF]

, 2020
Justyna Okarmus, Jesper F. Havelund, Matias Ryding, Sissel Ida Schmidt, Helle Bogetofte, Nils J. Færgeman, Poul Hyttel, Morten Meyer   +7 more
openalex   +1 more source

Stem cell–based therapies for type 1 diabetes: Progress in differentiation, clinical translation, and immune protection

Animal Models and Experimental Medicine, EarlyView.
Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley   +1 more source

Alzheimer's disease risk single nucleotide polymorphism rs11218343 is linked to functional expression of SORL1 in microglia. [PDF]

Alzheimers Dement
Gorniak-Walas M, Telugu NS, Rudolph IM, Diecke S, Willnow TE.   +4 more
europepmc   +1 more source

Unveiling Genomic Rearrangements in Engineered iPSC Lines by Optical Genome Mapping [PDF]

Darren Finlay, Pooja Hor, Benjamin Goldenson, Xiaohua Li, Rabi Murad, Dan S. Kaufman, Kristiina Vuori   +6 more
openalex   +1 more source

The iPSC proteomic compendium [PDF]

, 2018
Alejandro J. Brenes, Dalila Bensaddek, Jens Hukelmann, Vackar Afzal, Angus I. Lamond   +4 more
openalex   +1 more source