Results 91 to 100 of about 332,339 (267)

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Aortic Stenosis with Mitral Stenosis [PDF]

Proceedings of the Royal Society of Medicine, 1929
openaire   +2 more sources

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

Animal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang, Juncheng Wang, Jun Cheng, Yanggan Wang   +3 more
wiley   +1 more source

Masseter Muscle Size in Chronic Parotid Sialadenitis

Laryngoscope Investigative Otolaryngology
Objective The relationship between masseter muscle thickness and parotid duct obstruction resulting in recurrent sialadenitis is not well defined. This study aims to evaluate masseter muscle size in patients with chronic sialadenitis of the parotid and ...
Erika M. Stephens, William E. Nesmith, M. Allison Ogden, Jolie L. Chang   +3 more
doaj   +1 more source

Rapid prediction of wall shear stress in stenosed coronary arteries based on deep learning

Frontiers in Bioengineering and Biotechnology
There is increasing evidence that coronary artery wall shear stress (WSS) measurement provides useful prognostic information that allows prediction of adverse cardiovascular events. Computational Fluid Dynamics (CFD) has been extensively used in research
Salwa Husam Alamir, Vincenzo Tufaro, Vincenzo Tufaro, Matilde Trilli, Pieter Kitslaar, Anthony Mathur, Anthony Mathur, Anthony Mathur, Andreas Baumbach, Andreas Baumbach, Joseph Jacob, Joseph Jacob, Christos V. Bourantas, Christos V. Bourantas, Ryo Torii   +14 more
doaj   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Translating Biomedical Research to Medical Devices: A Practical Guide and the Arteriovenous Graft Case Study

Advanced NanoBiomed Research, EarlyView.
Despite significant advances, most academic research fails to result in medical products that benefit patients. This guide shares five key steps to help researchers close that gap: set clear goals, test thoroughly, protect ideas, build diverse teams, and partner with industry.
Cristina Oldani, Nina Bono, Alice Caldiroli, Stefania Adele Riboldi, Gabriele Candiani   +4 more
wiley   +1 more source