Results 41 to 50 of about 435 (138)

Living with Usher Syndrome: Patient and Physician Perspectives

Ophthalmology and Therapy, 2020
Plain Language Summary In this patient–physician perspective a patient with Usher syndrome shares her experience. Usher syndrome affects both hearing and vision.
Helene Lønborg-Møller, Yousif Subhi, Line Kessel   +2 more
doaj   +1 more source

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB‐Related Genes: An Impossible Challenge?

Clinical Genetics, EarlyView.
As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.
Ralyath Balogoun, Margaux Serey‐Gaut, Laurence Jonard, Sandrine Marlin   +3 more
wiley   +1 more source

Dermatologic Toxicities Associated With Novel Pan‐RAS/RAF Inhibitors

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Background The mitogen‐activated protein kinase (MAPK) pathway plays a key role in cell‐cycle regulation and tumor progression in cancer. Dermatologic toxicities (DTs) to newer pan‐RAS (RMC‐6236) and pan‐RAF (LXH254/naporafenib) inhibitors are emerging.
Lin J. He, Shaymaa Hegazy, Phyu P. Aung, Priyadharsini Nagarajan, Fiorinda Muhaj, Adrienne N. Choksi, Ana M. Ciurea, Kelly C. Nelson, Doina Ivan, Carlos A. Torres‐ Cabala, Victor G. Prieto, Jonathan L. Curry   +11 more
wiley   +1 more source

The Oral‐Gut Axis: Bidirectional Interactions Between Microbiome and Diseases

Journal of Periodontal Research, EarlyView.
This study aims to summarize the mechanisms underlying ectopic colonization of the gut by oral pathobionts and the microbial and host factors that regulate this process. ABSTRACT Increased colonization of typically oral microorganisms is frequently observed in the gut mucosa or lumen of individuals with gastrointestinal disorders, including patients ...
Shinya Ebihara, Nobuhiko Kamada
wiley   +1 more source

The dynamics of cyclic‐periodic phenomena during non‐rapid and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Sleep is a complex physiological state characterized by distinct stages, each exhibiting unique electroencephalographic patterns and physiological phenomena. Sleep research has unveiled the presence of intricate cyclic‐periodic phenomena during both non‐rapid eye movement and rapid eye movement sleep stages. These phenomena encompass a spectrum
Maria P. Mogavero, Lourdes M. DelRosso, Giuseppe Lanza, Oliviero Bruni, Luigi Ferini Strambi, Raffaele Ferri   +5 more
wiley   +1 more source

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, Volume 200, Issue 10, Page 2289-2308, October 2026.
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

Brown Adipose Tissue: Molecular Mechanisms of Regulation, Physiological Functions, and Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
This review systematically covers three core dimensions of brown adipose tissue (BAT): multilayered regulatory mechanisms governing brown adipocyte differentiation and phenotypic identity, physiological functions and signaling pathways in mediating thermogenesis and systemic metabolic crosstalk between BAT and multiple organs, and emerging clinical in ...
Xiaoli Deng, Yuanyuan Shen, Ying Sun, Lu Lu, Chongkui Sun   +4 more
wiley   +1 more source

Past, Present and Future: A Historical Analysis and Reflection of 100 Years of Nursing Leadership

Nursing Inquiry, Volume 33, Issue 4, October 2026.
ABSTRACT This paper critically examines the evolution of nursing leadership over the past century, exploring how changing historical, social and professional contexts have influenced styles and their ongoing relevance to contemporary nursing practice.
Sherrie Bolton, Amy‐Louise Byrne, Lisa Wirihana, Justine Connor, Ellie Cutmore   +4 more
wiley   +1 more source

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, Volume 13, Issue 52, 18 September 2026.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen, Jiahe Wei, Jonathan Cedernaes, Christian Benedict, Athanasios Tsanas, Zhi Cao, Xiao Tan   +6 more
wiley   +1 more source

A Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning

Biomolecules
Usher syndrome, a rare genetic disorder causing both hearing and vision loss, presents significant diagnostic and therapeutic challenges due to its complex genetic basis.
Rama Krishna Thelagathoti, Wesley A. Tom, Dinesh S. Chandel, Chao Jiang, Gary Krzyzanowski, Appolinaire Olou, M. Rohan Fernando   +6 more
doaj   +1 more source