Results 221 to 230 of about 88,697 (303)

Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing. [PDF]

Am J Hum Genet
Jang Y, Gardiner S, Wang Y, Natu A, Dehankar MK, Tomasini L, Panda A, Cibulskis C, Anderson L, Coorens THH, Oh JW, Urban AE, Ardlie K, Marth G, Vaccarino FM, Abyzov A.   +15 more
europepmc   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Induced Pluripotent Stem Cell-Derived Small-Diameter Vascular Grafts: Scaffold Design, Immune Engineering, and Clinical Translation. [PDF]

J Cell Physiol
Kim D, Choo S, Lee SS.
europepmc   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the <i>CAV3</i> N-Terminal Variant p.Ala46Thr. [PDF]

Hum Mutat
Wang J, Zhu X, Li Y, Dai L, Tan X, Li J, Guo H.   +6 more
europepmc   +1 more source

Human induced pluripotent stem cell‐derived cortical neurons from monozygotic twins with the Gαo1K278del mutation reveal disease mechanisms relevant to GNAO1‐related encephalopathy

Epilepsia, EarlyView.
Abstract Objective Rare de novo variants in GNAO1 cause a severe neurodevelopmental disorder characterized by a heterogenous display of early onset epilepsy, movement abnormalities, and global developmental delay. More than 100 pathogenic variants in GNAO1 have been identified and categorized into four groups according to their protein features.
Maria Sáez González, Kes Kloosterhuis, Jeroen Vreijling, Hailiang Mei, Tom P. Hellings, Davide Pirolli, Anine H. Stam, Arn M. J. M. van den Maagdenberg, Vivi M. Heine, Jean‐Philippe Frimat, Laura A. van de Pol, Frank Baas, Harald M. M. Mikkers   +12 more
wiley   +1 more source

From patient cells to patient therapy: Twenty years of iPSC-based translation in neurodegenerative disease. [PDF]

Cell Rep Med
Cha Y, Kim KS.
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Uncovering cardiac molecular remodelling in racing Thoroughbreds with paroxysmal atrial fibrillation

Equine Veterinary Journal, EarlyView.
Abstract Background Atrial fibrillation (AF) is the most common arrhythmia in both humans and horses, with a comparable prevalence of ~2%. In horses, AF is a major cause of poor athletic performance and linked to sudden cardiac death, yet its underlying molecular mechanisms remain poorly understood.
Charlotte E. Edling, Magdalena Arevalo‐Turrubiarte, Carla Moller‐Levet, Bronte Forbes, Victoria Kemp, Joe Weir, Gary Tse, Celia Marr, Rebecca Lewis, Kamalan Jeevaratnam   +9 more
wiley   +1 more source