Results 71 to 80 of about 15,822 (283)

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Curved Bistable Origami‐Inspired Flexible Transcatheter Mitral Valve Clamping

Advanced Science, EarlyView.
A lightweight bistable curved origami dilator combines reversible deformation and high stability, offering a promising solution for minimally invasive mitral valve repair. Abstract Curved origami exhibits remarkable potential for minimally invasive medical applications owing to its unique geometric programmability and mechanical tunability. Building on
Siyu Gao, Fan Jiang, Xiuting Sun, Peng Qi, Jian Xu   +4 more
wiley   +1 more source

Water‐Assisted Exfoliation of HfO2‐Based Membrane for Flexible Robust Ferroelectric Synaptic Transistors

Advanced Science, EarlyView.
A flexible freestanding HfO2‐based ferroelectric membrane is achieved via a water‐assisted exfoliation technique using a Sr4Al2O₇ sacrificial layer. The BaTiO3/Hf0.5Zr0.5O2/BaTiO3 heterostructure maintains robust ferroelectricity and exhibits reliable synaptic plasticity.
Han Zhang, Miao Zeng, Jingxin Chen, Lei Wang, Sai Jiang, Qian Cao, Xuebo Li, Zekun Hou, Chun Shen, Yulin Gan, Ning Fang, Zhaoliang Liao, Ziyao Zhou, Lin Hao   +13 more
wiley   +1 more source

Synthetic Electrocardiogram Spectrogram Generation Using Generative Adversarial Network‐Based Models: A Comparative Study

Advanced Intelligent Systems, EarlyView.
Cardiovascular diseases are leading death causes; electrocardiogram (ECG) analysis is slow, motivating machine learning and deep learning. This study compares deep convolutional generative adversarial network, conditional GAN, and Wasserstein GAN with gradient penalty (WGAN‐GP) for synthetic ECG spectrograms; Fréchet Inception Distance (FID) and ...
Giovanny Barbosa‐Casanova, Norelli Schettini, Winston Percybrooks, Begoña García‐Zapirain   +3 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Ventricular premature complexes [PDF]

Annaly aritmologii, 2015
O.L. Bockeria, T.N. Kanametov
openaire   +3 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Bipolar radiofrequency catheter ablation between the left ventricular endocardium and great cardiac vein for refractory ventricular premature complexes originating from the left ventricular summit

Journal of Arrhythmia, 2020
Ablation for ventricular arrhythmias originating from the left ventricular (LV) summit is sometimes challenging. Bipolar radiofrequency catheter ablation (RFCA) is effective for refractory arrhythmias; little is known about bipolar RFCA from the coronary
Sayuri Tokioka, Seiji Fukamizu, Iwanari Kawamura, Takeshi Kitamura, Rintaro Hojo   +4 more
doaj   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source