Results 141 to 150 of about 211,361 (268)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Clinicopathological and genetic analysis of orbital solitary fibrous tumors

BMC Ophthalmology
Purpose To investigate the clinicopathological and genetic characteristics of patients with orbital solitary fibrous tumor (SFT) for clinical reference. Methods This single-center retrospective case-series study assessed clinical manifestations, imaging ...
Qing Wang, Zonghan Nan, Xun Liu, Limin Zhu, Emmanuel Eric Pazo, Tianming Jian, Liang Zhao, Jinzhi Zhao, Tingting Lin   +8 more
doaj   +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

Pre‐Diagnostic Plasma Carotenoids, Tocopherols and Retinol Levels, and Risk of Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Our goal was to examine whether pre‐diagnostic plasma carotenoids and tocopherols are associated with amyotrophic lateral sclerosis (ALS). Methods A nested case–control study within 4 United States cohorts, where 154 participants with pre‐diagnostic blood‐draw, were diagnosed during follow‐up with amyotrophic lateral sclerosis (ALS). Controls
Éilis J. O'Reilly, Kjetil Bjornevik, Jeremy D. Furtado, Alpa V. Patel, Ying Wang, Laurence N. Kolonel, Loïc Le Marchand, Alberto Ascherio   +7 more
wiley   +1 more source

Quantum Phenomena in Molecular and Biological Systems: A Decoherence‐Based Decision Framework With Falsifiable Predictions and a Failure‐Mode Taxonomy

Advanced Physics Research, EarlyView.
A physics‐grounded framework based on decoherence timescales (τ_dec vs τ_func), Markovian validity, and falsifiability criteria is applied across molecular systems to distinguish where quantum effects are necessary, marginal, or irrelevant. The analysis integrates quantum chemistry, biological quantum mechanisms, and quantum computing under a unified ...
Sarfaraz K. Niazi
wiley   +1 more source

Comparative Analysis of Salmonella typhimurium‐Induced Transcriptomic Changes in the Spleen of Beijing‐You Chickens and Guang Ming Broilers

Animal Research and One Health, EarlyView.
This study analyzed the spleen transcriptomes of different chicken breeds, identified key differentially expressed genes (EGR1, FOS, and DUSP1) that regulate resistance to Salmonella infection, and elucidated the underlying regulatory mechanisms, thereby providing new targets for disease‐resistant breeding in poultry.
Zixuan Wang, Man Deng, He Geng, Jumei Zheng, Xiang Li, Yaping Wang, Qinghe Li, Guiping Zhao, Qiao Wang   +8 more
wiley   +1 more source

Treatment of a Large Cohort of Childhood Chronic Noninfectious Uveitis in a Multicentric Large Study: Adalimumab Versus Methotrexate as First‐Line Therapy

Arthritis &Rheumatology, EarlyView.
Objective Treatment of childhood chronic idiopathic uveitis (cCIU) is predominantly based on studies in juvenile idiopathic arthritis–associated uveitis and expert opinion. Our aim was to report the treatment outcomes of our cohort of cCIU. Methods Retrospective multicenter study involving the rheumatology and ophthalmology units at Florence, Italy ...
Ilaria Maccora, Catherine Guly, Cinzia de Libero, Giulia Carreras, Athimalaipet V. Ramanan, Gabriele Simonini   +5 more
wiley   +1 more source

Clock Genes Regulate Ca2+ Signaling and Mitochondrial Bioenergetics to Inhibit Sjögren Disease

Arthritis &Rheumatology, EarlyView.
Objective Although Ca2+ signaling and metabolism have been identified as key determinants for the development of Sjögren disease (SjD), the intricate connection between them and salivary gland physiology remains poorly understood. Methods Fluorescence‐based Ca2+ imaging, RNA sequencing, and mitochondrial activity were used to investigate the effects of
Viktor R. Drel, Manigandan Venkatesan, Rahul S. Jasrotia, Yuyang Sun, Viviane Nascimento da Conceicao, Neelanjan Vishnu, Shankara N. Varadarajan, Venugopal R. Bovilla, Rajender K. Motiani, Shobhan Gaddameedhi, Bibhuti B. Mishra, Muniswamy Madesh, Brij B. Singh   +12 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Aqueous Humor Metabolomics in Different Stages of Diabetic Retinopathy Based on Ultra - Performance Liquid Chromatography - Tandem Mass Spectrometry

Diabetes, Metabolic Syndrome and Obesity
Zetong Nie,1,* Shaofang Pang,1,* Zhaoxiong Wang,2,* Meng Yang,1 Xiang Zhang,1 Haoxin Guo,1 Wenbo Li,1 Boshi Liu,1 Weihong Yu,3 Bojie Hu1 1Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National ...
Nie Z, Pang S, Wang Z, Yang M, Zhang X, Guo H, Li W, Liu B, Yu W, Hu B   +9 more
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