Results 111 to 120 of about 40,451 (242)

A novel selective stabilizer of the ryanodine receptor 2 prevents stress‐induced ventricular arrhythmias without impairing cardiac function

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Aberrant activation of type 2 ryanodine receptors (RyR2) causes lethal arrhythmias, such as catecholaminergic polymorphic ventricular tachycardia (CPVT). Developing drugs that suppress RyR2 hyperactivation may be key to novel arrhythmia treatments.
Nagomi Kurebayashi, Masami Kodama, Hana Inoue, Masato Konishi, Masami Sugihara, Takashi Murayama, Ryosuke Ishida, Koichiro Ishii, Shuichi Mori, Yukari Endo, Xi Zeng, Yukiko U. Inoue, Takayoshi Inoue, Satoru Noguchi, Hajime Nishio, Eri Nakashima, Norio Suzuki, Noriko Nakaya, Ryushi Sato, Yuya Otori, Ayuna Tsutsumi, Mirei Takahashi, Takayuki Oka, Haruo Ogawa, Kayoko Kanamitsu, Hiroyuki Kusuhara, Utako Yokoyama, Junko Kurokawa, Hiroyuki Kagechika, Takashi Sakurai   +29 more
wiley   +1 more source

Artificial Intelligence in Fetal Echocardiography

Инновационная медицина Кубани
Background: Congenital heart diseases (CHD) are one of the most common birth defects, occurring in 5-9 per 1000 newborns. CHD are the second leading cause of infant mortality and account for 47% of all causes of death from birth defects.The main method ...
E. L. Bokerija, N. E. Yannaeva, A. N. Sencha, P. V. Metelkin, O. V. Yurchenko   +4 more
doaj   +1 more source

Heat shock transcription factor 1 preserves cardiac angiogenesis and adaptation during pressure overload [PDF]

, 2008
To examine how heat shock transcription factor 1 (HSF1) protects against maladaptive hypertrophy during pressure overload, we subjected HSF1 transgenic (TG), knockout (KO) and wild type (WT) mice to a constriction of transverse aorta (TAC), and found ...
Aijun Sun, Aili Guan, Akira Nakai, Hong Jiang, Hong Ma, Hui Gong, Issei Komuro, Jie Yuan, Jiming Li, Junbo Ge, Lingyan Yuan, Ning Zhou, Yanyan Liang, Yuhong Niu, Yunzeng Zou, Yuqi Wang, Zhen Ma   +16 more
core   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

First Pediatric Application of Bachmann's Bundle Pacing and Left Bundle Branch Area Pacing for Bi‐Physiologic Conduction System Pacing

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Background Atrial pacing at right atrial appendage causes nonphysiologic delays. Bachmann's bundle (BB) pacing preserves synchrony but lacks pediatric data. Case Summary We report the first pediatric combined BB and left bundle branch area pacing in a 9‐year‐old boy (23.5 kg).
Hei‐To Leung, Sabrina Tsao, Samuel Chung‐Sum Ho, Kwok‐Lap Chan, Yiu‐Fai Cheung, Sit‐Yee Kwok   +5 more
wiley   +1 more source

Angiotensin‐converting enzyme and exercise adaptations: Genetic variability, pharmacological modulation and future directions

The Journal of Physiology, EarlyView.
Abstract figure legend ACE I/D genotype, enzyme activity and integrated physiological adaptations. Upper panel: Conceptual framework linking the ACE I/D polymorphism (left) with circulating/tissue ACE activity (centre; violin plots based on hypothetical data for illustration) and strength/power versus endurance phenotypes (right).
Tórur Sjúrðarson, Nikolai B. Nordsborg   +1 more
wiley   +1 more source

Role of reactive oxygen species in mediating peripheral hypoxic vasodilation and sympathoexcitation at high altitude

The Journal of Physiology, EarlyView.
Abstract figure legend High‐altitude acclimatisation increases muscle sympathetic nerve activity (MSNA) via activation of the arterial chemoreflex, pulmonary arterial baroreceptors and resetting of the sympathetic vascular baroreflex. However attempting to silence these mechanisms only partially normalises MSNA, implicating other contributory ...
Liam D. Corr, Andrew J. M. Douglas, Elliott J. Jenkins, Lauren E. Maier, Jodie L. Koep, Travis D. Gibbons, Adam Field, James D. Anholm, Katharine Foster, Zoe H. Adams, Lydia L. Simpson, Jonathan P. Moore, Tinna Traustadottir, Christoph Siebenmann, Joshua C. Tremblay, Mike Stembridge   +15 more
wiley   +1 more source

437: Underlying etiologies in prenatally-diagnosed non-immune hydrops fetalis [PDF]

, 2018
Datkhaeva, Ilina, Fratto, Victoria, Laurent, Louise, Lianoglou, Billie, Mardy, Anne H, Murphy, Aisling M, Norton, Mary E, Sparks, Teresa N, Thao, Kao, Wilson, Lisa   +9 more
core   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
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, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source