Results 141 to 150 of about 86,308 (267)

Jointless Tongue‐Like Bioactuator for Multidirectional Motion Through Directional Electrical Stimulation

open access: yesAdvanced Intelligent Systems, EarlyView.
A tongue‐like bioactuator is developed using orthogonally aligned cultured skeletal muscle tissues. By applying directional electrical stimulation of varying strengths, the actuator achieves jointless, multidirectional movements. The device features a fully soft, skeleton‐free design, enabling biomimetic deformation and functional actuation, and offers
Xuankai Gao   +4 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

open access: yesAngewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu   +11 more
wiley   +2 more sources

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]

open access: yesPLoS One
Valberg SJ   +7 more
europepmc   +1 more source

An ultra‐processed food‐based cafeteria diet induces obesity, metabolic dysfunction, and tissue‐specific gene dysregulation in C57BL/6 mice

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This schematic figure illustrates the experimental design and key findings of the study. Forty male C57BL/6 mice were assigned to either a standard diet control group or a cafeteria diet (CAFD) group for 16 weeks. CAFD induces obesity, insulin resistance (HOMA‐IR), hepatic steatosis, and dysregulation of a number of genes in visceral and subcutaneous ...
Guilherme Coutinho Kullmann Duarte   +9 more
wiley   +1 more source

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